Search results for: gene family
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 4389

Search results for: gene family

4299 Mutations in the GJB2 Gene Are the Cause of an Important Number of Non-Syndromic Deafness Cases

Authors: Habib Onsori, Somayeh Akrami, Mohammad Rahmati

Abstract:

Deafness is the most common sensory disorder with the frequency of 1/1000 in many populations. Mutations in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 are associated with congenital hearing loss. Approximately 80% of congenital hearing loss cases are recessively inherited and 15% dominantly inherited. Mutations of the GJB2 gene, encoding gap junction protein Connexin 26 (Cx26), are the most common cause of hereditary congenital hearing loss in many countries. This report presents two cases of different mutations from Iranian patients with bilateral hearing loss. DNA studies were performed for the GJB2 gene by PCR and sequencing methods. In one of them, direct sequencing of the gene showed a heterozygous T→C transition at nucleotide 604 resulting in a cysteine to arginine amino acid substitution at codon 202 (C202R) in the fourth extracellular domain (TM4) of the protein. The analyses indicate that the C202R mutation appeared de novo in the proband with a possible dominant effect (GenBank: KF 638275). In the other one, DNA sequencing revealed a compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL). So screening the mutations for hearing loss individuals referring to genetics counseling centers before marriage and or pregnancy is recommended.

Keywords: CX26, deafness, GJB2, mutation

Procedia PDF Downloads 461
4298 The Role of Identifications in Women Psychopathology

Authors: Mary Gouva, Elena Dragioti, Evangelia Kotrsotsiou

Abstract:

Family identification has the potential to play a very decisive role in psychopathology. In this study we aimed to investigate the impact of family identifications on female psychopathology. A community sample of 101 women (mean age 20.81 years, SD = 0.91 ranged 20-25) participated to the present study. The girls completed a) the Symptom Check-List Revised (SCL-90) and b) questionnaire concerning socio-demographic information and questions for family identifications. The majority of women reported that they matched to the father in terms of identifications (47.1%). Age and birth order were not contributed on family identifications (F(5) =2.188, p=.062 and F(3)=1.244, p=.299 respectively). Multivariate analysis by using MANCOVA found statistical significant associations between family identifications and domains of psychopathology as provided by SCL-90 (P<05). Our results highlight the role of identifications especially on father and female psychopathology as well as replicate the Freudian perception about the female Oedipus complex.

Keywords: family identification, psychoanalysis, psychopathology, women

Procedia PDF Downloads 287
4297 Family Values and Honest Attitudes in Pakistan: The Role of Tolerance and Justice Attitudes

Authors: Muhammad Shoaib

Abstract:

The aim of the study is to examine the effects of family values on honest attitudes by the mediation of tolerance attitudes and justice attitudes among family members. As many other developing settings, Pakistani society is undergoing a rapid and multifaceted social changes, in which traditional thinking coexists and often clashes with modern thinking. Family values have great effects on the honest attitudes among family members as well as all the members of Pakistani society. Tolerance attitudes, justice attitudes, personal experiences and modernity factors are contributing to the development of honest attitudes among family members. Family values attitudes enhance the concept of honesty feelings, fairness, and less thinking towards theft. For the present study 520 respondents were sampled from two urban areas of Punjab province; Lahore and Faisalabad, through proportionate random sampling technique. A survey method was used as a technique of data collection and an interview schedule was administered to collect information from the respondents. The results shows similar positive effects of tolerance and justice attitudes on honest attitude by the mediation of family values attitudes.

Keywords: family values, tolerance, justice, honesty, attitudes, Pakistan

Procedia PDF Downloads 413
4296 A Novel PfkB Gene Cloning and Characterization for Expression in Potato Plants

Authors: Arfan Ali, Idrees Ahmad Nasir

Abstract:

Potato (Solanum tuberosum) is an important cash crop and popular vegetable in Pakistan and throughout the world. Cold storage of potatoes accelerates the conversion of starch into reduced sugars (glucose and fructose). This process causes dry mass and bitter taste in the potatoes that are not acceptable to end consumers. In the current study, the phosphofructokinase B gene was cloned into the pET-30 vector for protein expression and the pCambia-1301 vector for plant expression. Amplification of a 930bp product from an E. coli strain determined the successful isolation of the phosphofructokinase B gene. Restriction digestion using NcoI and BglII along with the amplification of the 930bp product using gene specific primers confirmed the successful cloning of the PfkB gene in both vectors. The protein was expressed as a His-PfkB fusion protein. Western blot analysis confirmed the presence of the 35 Kda PfkB protein when hybridized with anti-His antibodies. The construct Fani-01 was evaluated transiently using a histochemical gus assay. The appearance of blue color in the agroinfiltrated area of potato leaves confirmed the successful expression of construct Fani-01. Further, the area displaying gus expression was evaluated for PfkB expression using ELISA. Moreover, PfkB gene expression evaluated through transient expression determined successful gene expression and highlighted its potential utilization for stable expression in potato to reduce sweetening due to long-term storage.

Keywords: potato, Solanum tuberosum, transformation, PfkB, anti-sweetening

Procedia PDF Downloads 440
4295 Association of Xeroderma pigmentosum Group D Gene Polymorphism with Colorectal Cancer Risk in Kashmiri Population

Authors: Syed Sameer Aga, Saniya Nissar

Abstract:

The Xeroderma pigmentosum group D gene (XPD) plays a key role in nucleotide excision repair (NER) pathway of the damaged DNA. Genetic polymorphisms in the coding region of the XPD gene may alter DNA repair capacity of the protein and hence can modulate the risk of colorectal cancer (CRC) risk. The aim of the study was to determine the genetic association of XPD Lys751Gln polymorphism with the risk of colorectal cancer (CRC) development. 120 CRC patients and 160 normal controls were assessed for genotype frequencies of XPD Lys751Gln polymorphism using PCR-RFLP technique. We observed a significant association (p < 0.05) between the XPD Lys751Gln polymorphism and the risk of developing CRC (p < 0.05). Additionally, Gln/Gln genotype of the XPD gene doubled the risk for the development of CRC [p < 0.05; OR=2.25 95% CI (1.07-4.7)]. Our results suggest that there is a significant association between the XPD Lys751Gln polymorphism and the risk of CRC.

Keywords: colorectal cancer, polymorphism, RFLP, DNA Repair, NER, XPD

Procedia PDF Downloads 194
4294 The Implementation of Child Adoption as Legal Protection of Children

Authors: Sonny Dewi Judiasih

Abstract:

The principle of a marriage is to achieve a happy and eternity family based on the willing of the God. The family has a fundamental role in the society as a social individual and as a nuclear family consists of father, mother, and children. Thus, each family always would like to have children who will continue the family. However, not all family will be blessed with children and consequently, there is family without children. Therefore, the said the certain family will do any effort to fulfill the wish to have children. One of the ways is to adopt children. The implementation of child adoption is conducted by the family who does not have children but sometimes child adoption is conducted by a family who has already children. The implementation of child adoption is based on the interest of the welfare and the intellectual of the said child. Moreover, it should be based on the social liability of the individual in accordance with the developing of the traditional values as part of the nation culture. The child adoption is conducted for the welfare of the child demonstrates that a change on the basic motive (value) whereby in the past the child adoption is to fulfill the wish of foster parent (to have children in the family). Nowadays the purpose of child adoption is not merely for the interest of foster parent but in particular for the interest, welfare and the future of the child. The development of the society has caused the occurrence of changes of perspective in the society which lead to a need for new law. The court of justice has an impact of such changes. It is evidenced by the court order for child adoption in the legal framework of certainty of law. The changes of motives (value) of the child adoption in the society can be fully understood in the event that the society fully understand that the ultimate purpose of Indonesia nation is to achieve a justice and prosperity society, i.e., social welfare for all Indonesian people.

Keywords: child adoption, family law, legal protection, children

Procedia PDF Downloads 436
4293 In Silico Analysis of Small Heat Shock Protein Gene Family by RNA-Seq during Tomato Fruit Ripening

Authors: Debora P. Arce, Flavia J. Krsticevic, Marco R. Bertolaccini, Joaquín Ezpeleta, Estela M. Valle, Sergio D. Ponce, Elizabeth Tapia

Abstract:

Small Heat Shock Proteins (sHSPs) are low molecular weight chaperones that play an important role during stress response and development in all living organisms. Fruit maturation and oxidative stress can induce sHSP synthesis both in Arabidopsis and tomato plants. RNA-Seq technology is becoming widely used in various transcriptomics studies; however, analyzing and interpreting the RNA-Seq data face serious challenges. In the present work, we de novo assembled the Solanum lycopersicum transcriptome for three different maturation stages (mature green, breaker and red ripe). Differential gene expression analysis was carried out during tomato fruit development. We identified 12 sHSPs differentially expressed that might be involved in breaker and red ripe fruit maturation. Interestingly, these sHSPs have different subcellular localization and suggest a complex regulation of the fruit maturation network process.

Keywords: sHSPs, maturation, tomato, RNA-Seq, assembly

Procedia PDF Downloads 454
4292 Bioinformatics Approach to Support Genetic Research in Autism in Mali

Authors: M. Kouyate, M. Sangare, S. Samake, S. Keita, H. G. Kim, D. H. Geschwind

Abstract:

Background & Objectives: Human genetic studies can be expensive, even unaffordable, in developing countries, partly due to the sequencing costs. Our aim is to pilot the use of bioinformatics tools to guide scientifically valid, locally relevant, and economically sound autism genetic research in Mali. Methods: The following databases, NCBI, HGMD, and LSDB, were used to identify hot point mutations. Phenotype, transmission pattern, theoretical protein expression in the brain, the impact of the mutation on the 3D structure of the protein) were used to prioritize selected autism genes. We used the protein database, Modeller, and clustal W. Results: We found Mef2c (Gly27Ala/Leu38Gln), Pten (Thr131IIle), Prodh (Leu289Met), Nme1 (Ser120Gly), and Dhcr7 (Pro227Thr/Glu224Lys). These mutations were associated with endonucleases BseRI, NspI, PfrJS2IV, BspGI, BsaBI, and SpoDI, respectively. Gly27Ala/Leu38Gln mutations impacted the 3D structure of the Mef2c protein. Mef2c protein sequences across species showed a high percentage of similarity with a highly conserved MADS domain. Discussion: Mef2c, Pten, Prodh, Nme1, and Dhcr 7 gene mutation frequencies in the Malian population will be very informative. PCR coupled with restriction enzyme digestion can be used to screen the targeted gene mutations. Sanger sequencing will be used for confirmation only. This will cut down considerably the sequencing cost for gene-to-gene mutation screening. The knowledge of the 3D structure and potential impact of the mutations on Mef2c protein informed the protein family and altered function (ex. Leu38Gln). Conclusion & Future Work: Bio-informatics will positively impact autism research in Mali. Our approach can be applied to another neuropsychiatric disorder.

Keywords: bioinformatics, endonucleases, autism, Sanger sequencing, point mutations

Procedia PDF Downloads 55
4291 Family Planning Use among Women Living with HIV in Malawi: Analysis from Malawi DHS-2010 Data

Authors: Dereje Habte, Jane Namasasu

Abstract:

Background: The aim of the analysis was to assess the practice of family planning (FP) among HIV-infected women and the influence of women’s awareness of HIV-positive status in the practice of FP. Methods: The analysis was made among 489 non-pregnant, sexually active, fecund women living with HIV. Result: Of the 489 confirmed HIV positive women, 184 (37.6%) reported that they knew they are HIV positive. The number of women with current use and unmet need of any family planning method were found to be 251 (51.2%) and 107 (21.9%) respectively. Women’s knowledge of HIV-positive status (AOR: 2.32(1.54,3.50)), secondary and above education (AOR: 2.36(1.16,4.78)), presence of 3-4 (AOR: 2.60(1.08,6.28)) and more than four alive children (AOR: 3.03(1.18,7.82)) were significantly associated with current use of family planning. Conclusion: Women’s awareness of HIV-positive status was found to significantly predict family planning practice among women living with HIV.

Keywords: family planning, HIV, Malawi, women

Procedia PDF Downloads 571
4290 Analysis of Expression Data Using Unsupervised Techniques

Authors: M. A. I Perera, C. R. Wijesinghe, A. R. Weerasinghe

Abstract:

his study was conducted to review and identify the unsupervised techniques that can be employed to analyze gene expression data in order to identify better subtypes of tumors. Identifying subtypes of cancer help in improving the efficacy and reducing the toxicity of the treatments by identifying clues to find target therapeutics. Process of gene expression data analysis described under three steps as preprocessing, clustering, and cluster validation. Feature selection is important since the genomic data are high dimensional with a large number of features compared to samples. Hierarchical clustering and K Means are often used in the analysis of gene expression data. There are several cluster validation techniques used in validating the clusters. Heatmaps are an effective external validation method that allows comparing the identified classes with clinical variables and visual analysis of the classes.

Keywords: cancer subtypes, gene expression data analysis, clustering, cluster validation

Procedia PDF Downloads 121
4289 Allelic Diversity of Productive, Reproductive and Fertility Traits Genes of Buffalo and Cattle

Authors: M. Moaeen-ud-Din, G. Bilal, M. Yaqoob

Abstract:

Identification of genes of importance regarding production traits in buffalo is impaired by a paucity of genomic resources. Choice to fill this gap is to exploit data available for cow. The cross-species application of comparative genomics tools is potential gear to investigate the buffalo genome. However, this is dependent on nucleotide sequences similarity. In this study gene diversity between buffalo and cattle was determined by using 86 gene orthologues. There was about 3% difference in all genes in term of nucleotide diversity; and 0.267±0.134 in amino acids indicating the possibility for successfully using cross-species strategies for genomic studies. There were significantly higher non synonymous substitutions both in cattle and buffalo however, there was similar difference in term of dN – dS (4.414 vs 4.745) in buffalo and cattle respectively. Higher rate of non-synonymous substitutions at similar level in buffalo and cattle indicated a similar positive selection pressure. Results for relative rate test were assessed with the chi-squared test. There was no significance difference on unique mutations between cattle and buffalo lineages at synonymous sites. However, there was a significance difference on unique mutations for non synonymous sites indicating ongoing mutagenic process that generates substitutional mutation at approximately the same rate at silent sites. Moreover, despite of common ancestry, our results indicate a different divergent time among genes of cattle and buffalo. This is the first demonstration that variable rates of molecular evolution may be present within the family Bovidae.

Keywords: buffalo, cattle, gene diversity, molecular evolution

Procedia PDF Downloads 462
4288 An Analysis on Clustering Based Gene Selection and Classification for Gene Expression Data

Authors: K. Sathishkumar, V. Thiagarasu

Abstract:

Due to recent advances in DNA microarray technology, it is now feasible to obtain gene expression profiles of tissue samples at relatively low costs. Many scientists around the world use the advantage of this gene profiling to characterize complex biological circumstances and diseases. Microarray techniques that are used in genome-wide gene expression and genome mutation analysis help scientists and physicians in understanding of the pathophysiological mechanisms, in diagnoses and prognoses, and choosing treatment plans. DNA microarray technology has now made it possible to simultaneously monitor the expression levels of thousands of genes during important biological processes and across collections of related samples. Elucidating the patterns hidden in gene expression data offers a tremendous opportunity for an enhanced understanding of functional genomics. However, the large number of genes and the complexity of biological networks greatly increase the challenges of comprehending and interpreting the resulting mass of data, which often consists of millions of measurements. A first step toward addressing this challenge is the use of clustering techniques, which is essential in the data mining process to reveal natural structures and identify interesting patterns in the underlying data. This work presents an analysis of several clustering algorithms proposed to deals with the gene expression data effectively. The existing clustering algorithms like Support Vector Machine (SVM), K-means algorithm and evolutionary algorithm etc. are analyzed thoroughly to identify the advantages and limitations. The performance evaluation of the existing algorithms is carried out to determine the best approach. In order to improve the classification performance of the best approach in terms of Accuracy, Convergence Behavior and processing time, a hybrid clustering based optimization approach has been proposed.

Keywords: microarray technology, gene expression data, clustering, gene Selection

Procedia PDF Downloads 295
4287 The Effect of Family Controlling Ownership on Financing Policy

Authors: Vera Diyanty, Akhmad Syahroza

Abstract:

This research aims to describe an empirical evidence of the influence of family control on the company’s financing policy. Additionally, this research also shows the effect of leadership from family member and the effectiveness of the board of commissioners on companies’ financing policy. The result of this study found that family control through direct and indirect ownership mechanism have a positive impact on the choice of bank loan compare to public debt. Nevertheless, this research also shows that companies’ founders who become CEO and the effectiveness of board of commissioners do not prove to increase the alignment effect nor decrease the negative impact of entrenchment effect on the bank loan preference.

Keywords: family controlling, family CEO, board effectiveness, financing policy

Procedia PDF Downloads 428
4286 The Role of MAOA Gene in the Etiology of Autism Spectrum Disorder in Males

Authors: Jana Kisková, Dana Gabriková

Abstract:

Monoamine oxidase A gene (MAOA) is suggested to be a candidate gene implicated in many neuropsychiatric disorders, including autism spectrum disorder (ASD). This meta-analytic review evaluates the relationship between ASD and MAOA markers such as 30 bp variable number tandem repeats in the promoter region (uVNTR) and single nucleotide polymorphisms (SNPs) by using findings from recently published studies. It seems that in Caucasian males, the risk of developing ASD increase with the presence of 4-repeat allele in the promoter region of MAOA gene whereas no differences were found between autistic patients and controls in Egyptian, West Bengal and Korean population. Some studies point to the importance specific haplotype groups of SNPs and interaction of MAOA with others genes (e.g. FOXP2 or SRY). The results of existing studies are insufficient and further research is needed.

Keywords: autism spectrum disorder, MAOA, uVNTR, single nucleotide polymorphism

Procedia PDF Downloads 365
4285 Transcriptomic Analysis of Acanthamoeba castellanii Virulence Alteration by Epigenetic DNA Methylation

Authors: Yi-Hao Wong, Li-Li Chan, Chee-Onn Leong, Stephen Ambu, Joon-Wah Mak, Priyasashi Sahu

Abstract:

Background: Acanthamoeba is a genus of amoebae which lives as a free-living in nature or as a human pathogen that causes severe brain and eye infections. Virulence potential of Acanthamoeba is not constant and can change with growth conditions. DNA methylation, an epigenetic process which adds methyl groups to DNA, is used by eukaryotic cells, including several human parasites to control their gene expression. We used qPCR, siRNA gene silencing, and RNA sequencing (RNA-Seq) to study DNA-methyltransferase gene family (DNMT) in order to indicate the possibility of its involvement in programming Acanthamoeba virulence potential. Methods: A virulence-attenuated Acanthamoeba isolate (designation: ATCC; original isolate: ATCC 50492) was subjected to mouse passages to restore its pathogenicity; a virulence-reactivated isolate (designation: AC/5) was generated. Several established factors associated with Acanthamoeba virulence phenotype were examined to confirm the succession of reactivation process. Differential gene expression of DNMT between ATCC and AC/5 isolates was performed by qPCR. Silencing on DNMT gene expression in AC/5 isolate was achieved by siRNA duplex. Total RNAs extracted from ATCC, AC/5, and siRNA-treated (designation: si-146) were subjected to RNA-Seq for comparative transcriptomic analysis in order to identify the genome-wide effect of DNMT in regulating Acanthamoeba gene expression. qPCR was performed to validate the RNA-Seq results. Results: Physiological and cytophatic assays demonstrated an increased in virulence potential of AC/5 isolate after mouse passages. DNMT gene expression was significantly higher in AC/5 compared to ATCC isolate (p ≤ 0.01) by qPCR. si-146 duplex reduced DNMT gene expression in AC/5 isolate by 30%. Comparative transcriptome analysis identified the differentially expressed genes, with 3768 genes in AC/5 vs ATCC isolate; 2102 genes in si-146 vs AC/5 isolate and 3422 genes in si-146 vs ATCC isolate, respectively (fold-change of ≥ 2 or ≤ 0.5, p-value adjusted (padj) < 0.05). Of these, 840 and 1262 genes were upregulated and downregulated, respectively, in si-146 vs AC/5 isolate. Eukaryotic orthologous group (KOG) assignments revealed a higher percentage of downregulated gene expression in si-146 compared to AC/5 isolate, were related to posttranslational modification, signal transduction and energy production. Gene Ontology (GO) terms for those downregulated genes shown were associated with transport activity, oxidation-reduction process, and metabolic process. Among these downregulated genes were putative genes encoded for heat shock proteins, transporters, ubiquitin-related proteins, proteins for vesicular trafficking (small GTPases), and oxidoreductases. Functional analysis of similar predicted proteins had been described in other parasitic protozoa for their survival and pathogenicity. Decreased expression of these genes in si146-treated isolate may account in part for Acanthamoeba reduced pathogenicity. qPCR on 6 selected genes upregulated in AC/5 compared to ATCC isolate corroborated the RNA sequencing findings, indicating a good concordance between these two analyses. Conclusion: To the best of our knowledge, this study represents the first genome-wide analysis of DNA methylation and its effects on gene expression in Acanthamoeba spp. The present data indicate that DNA methylation has substantial effect on global gene expression, allowing further dissection of the genome-wide effects of DNA-methyltransferase gene in regulating Acanthamoeba pathogenicity.

Keywords: Acanthamoeba, DNA methylation, RNA sequencing, virulence

Procedia PDF Downloads 170
4284 Polymorphism in Myostatin Gene and Its Association with Growth Traits in Kurdi Sheep of Northern Khorasan

Authors: Masoud Alipanah, Sekineh Akbari, Gholamreza Dashab

Abstract:

Myostatin genes or factor 8 affecting on growth and making differentiation works (GDF8) as a moderator in the development of skeletal muscle inhibitor. If mutations occurs in the coding region of myostatin, alter its inhibitory role and the muscle growth is increased. In this study, blood samples were collected randomly from 60 Kurdish sheep in northern Khorasan and DNA extraction was performed using a modified salt. A fragment 337 bp from exon 3 myostatin gene and-specific primers by using a polymerase chain reaction (PCR) were amplified. In order to detect different forms of an allele at this locus HaeΙΙΙ restriction enzymes and PCR-RFLP analysis were used. Band patterns clarification was performed using agarose gel electrophoresis. The frequency of genotypes mm, Mm, and MM, were respectively detected, 0, 0.15 and 0.85. The allele frequency for alleles m and M, were respectively, 0.07 and 0.93. The statistical analyses indicated that m allele was significantly associated with body weight. The results of this study suggest that the Myostatin gene possibly is a candidate gene that affects growth traits in Kurdish sheep.

Keywords: GDF8 gene, Kurdi Sheep of Northern Khorasan, polymorphism, weight traits

Procedia PDF Downloads 318
4283 MHC Class II DRB1 Gene Polymorphism in Lori Sheep Breed

Authors: Shahram Nanekarani, Majid Goodarzi, Majid Khosravi

Abstract:

The present study aimed at analyzing of ovine major histocompatibility complex class II (Ovar II) DRB1 gene second exon in Lori Sheep breed. The MHC plays a central role in the control of disease resistance and immunological response. Genomic DNA from blood samples of 124 sheep was extracted and a 296 bp MHC exon 2 fragment was amplified using polymerase chain reaction. PCR products were characterized by the restriction fragment length polymorphism technique using Hin1I restriction enzyme. The PCRRFLP patterns showed three genotypes, AA, AB and BB with frequency of 0.282, 0.573 and 0.145, respectively. There was no significant (P > 0.05) deviation from Hardy–Weinberg equilibrium for this locus in this population. The results of the present study indicate that exon 2 of the Ovar-DRB1 gene is highly polymorphic in Lori sheep and could be considered as an important marker assisted selection, for improvement of immunity in sheep.

Keywords: MHC-DRB1 gene, polymorphism, PCR-RFLP, lori sheep

Procedia PDF Downloads 375
4282 Meat Consumption for Family Health in Nigeria

Authors: Chigbu Ruth Nnena

Abstract:

This paper discussed the concept of meat its nutritive value in family meals. The paper further discussed the selection, storage and preparation of meat in family meal the Nigerian way. The paper made the following recommendations among others; that families in Nigeria should rear cow meat for easy access to the meant and that family should purchase meat that are fresh from chain shops in the market to avoid meat contamination among others.

Keywords: meat, selection, storage meals, concept and preparation

Procedia PDF Downloads 319
4281 Fam111b Gene Dysregulation Contributes to the Malignancy in Fibrosarcoma, Poor Clinical Outcomes in Poiktmp and a Low-cost Method for Its Mutation Screening

Authors: Cenza Rhoda, Falone Sunda, Elvis Kidzeru, Nonhlanhla P. Khumalo, Afolake Arowolo

Abstract:

Introduction: The human FAM111B gene mutations are associated with POIKTMP, a rare multi-organ fibrosing disease. Recent studies also reported the overexpression of FAM111B in specific cancers. However, the role of FAM111B in these pathologies, particularly fibrosarcoma, remains unknown. Materials and Methods: FAM111B RNA expression in some cancer cell lines was assessed in silico and validated in vitro in these cell lines and skin fibroblasts derived from the South African family member affected by POIKTMP with the heterozygous FAM111B gene mutation: NM_198947.4: c.1861T>G (p. Tyr621Asp or Y621D) by qPCR and western blot. The cellular function of FAM111B was also studied in HT1080 using various cell-based functional assays and a simple and cost-effective PCR-RFLP method for genotyping/screening FAM111B gene mutations described. Results: Expression studies showed upregulated FAM111B mRNA and protein in the cancer cells. High FAM111B expression with robust nuclear localization occurred in HT1080. Additionally, expression data and cell-based assays indicated that FAM111B led to the upregulation of cell migration and decreased cell apoptosis and cell proliferation modulation. FAM111B Y621D mutation showed similar effects on cell migration but minimal impact on cell apoptosis. FAM111B mRNA and protein expression were markedly downregulated (p ≤ 0.05) in the patient's skin-derived fibroblasts. Lastly, the PCR-RFLP method successfully genotyped FAM111B Y621D gene mutation. Discussion: FAM111B is a cancer-associated nuclear protein: Its modulation by mutations may enhance cell migration and proliferation and decrease apoptosis, as seen in cancers and POIKTMP/fibrosis, thus representing a viable therapeutic target in these disorders. Furthermore, the PCR-RFLP method could prove a valuable tool for FAM111B mutation validation or screening in resource-constrained laboratories.

Keywords: FAM111B, POIKTMP, cancer, fibrosis, PCR-RFLP

Procedia PDF Downloads 99
4280 Base Change for Fisher Metrics: Case of the q-Gaussian Inverse Distribution

Authors: Gabriel I. Loaiza Ossa, Carlos A. Cadavid Moreno, Juan C. Arango Parra

Abstract:

It is known that the Riemannian manifold determined by the family of inverse Gaussian distributions endowed with the Fisher metric has negative constant curvature κ= -1/2, as does the family of usual Gaussian distributions. In the present paper, firstly, we arrive at this result by following a different path, much simpler than the previous ones. We first put the family in exponential form, thus endowing the family with a new set of parameters, or coordinates, θ₁, θ₂; then we determine the matrix of the Fisher metric in terms of these parameters; and finally we compute this matrix in the original parameters. Secondly, we define the inverse q-Gaussian distribution family (q < 3) as the family obtained by replacing the usual exponential function with the Tsallis q-exponential function in the expression for the inverse Gaussian distribution and observe that it supports two possible geometries, the Fisher and the q-Fisher geometry. And finally, we apply our strategy to obtain results about the Fisher and q-Fisher geometry of the inverse q-Gaussian distribution family, similar to the ones obtained in the case of the inverse Gaussian distribution family.

Keywords: base of changes, information geometry, inverse Gaussian distribution, inverse q-Gaussian distribution, statistical manifolds

Procedia PDF Downloads 217
4279 Family Relationships among Users and Non Users of Social Media

Authors: Sawsan Kamal Kalil El Galad, Heba Shafik Ibrahim Mohamed, Rania Ismail Moussa

Abstract:

New developments in the technological world have made the internet an innovative way for individuals and families to communicate. Social media sites help in fulfilling communication needs and wants of their users. The use of social media may have an effect on the family relation either in a positive or negative manner. This study aimed to investigate the family relationships among users and non users of social media. The study followed a cross- sectional descriptive comparative research design. It was conducted on 360 employees, at Damanhour University in Elbeheira, Egypt. Brief Family Relationship Scale (BFRS) was used to collect the data of this study. The results revealed that the mean score of the social media users is slightly increased in relation to the non users of social media mean score with no significant difference between both groups. It was concluded that using social media for short time has no effect on the family relationship, sitting with family in daily base satisfy the social and emotional needs of its member and enhance family relations. Recommendations encompassed that the time spent on social media should be assessed regularly to prevent being isolated from the family members. Educational programs to increase the parent’s awareness how to deal with their children regarding social media and its risks.

Keywords: social media, family relationships, communication needs, culture

Procedia PDF Downloads 75
4278 Detection of Polymorphism of Growth Hormone Gene in Holstein Cattle

Authors: Emine Şahin, Murat Soner Balcıoğlu

Abstract:

The aim of this study was to determine the growth hormone (bGH) gene polymorphism in the Holstein cattle growing around Antalya in Turkey. In order to determine the bGH-AluI polymorphism, polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method was performed. A 891 bp fragment of bGH was amplified and two types of alleles C and D for bGH were observed. In this study, the frequencies of C and D alleles were 0.8438 and 0.1562, respectively. The genotype frequencies for CC, CD and DD were 0.787, 0.191 and 0.022, respectively. According to the results of the chi-square test, a significant deviation from the Hardy-Weinberg equilibrium was not determined for the bGH locus in the population.

Keywords: Growth Hormone Gene, Holstein , Polymorphism, RFLP

Procedia PDF Downloads 346
4277 Knowledge and Practice of Family Planning among Rural Women in Ogun State, South West Nigeria

Authors: Tope Olubodun

Abstract:

Background: Family planning practices help individuals and couples avoid unwanted pregnancies, regulate intervals between pregnancies, and determine the number of children in the family. Family planning is an effective intervention for promoting maternal health, but its acceptability and utilization are impeded by many factors in Southwest Nigeria. Aim: This study was conducted to assess women’s knowledge and practice of family planning in two rural communities in Ogun State, Southwest Nigeria, and to determine factors associated with the utilization of family planning among these women. Methods: This was a cross-sectional study conducted among 561 women of reproductive age selected by multistage sampling. The data collection was done using interviewer-administered questionnaires. Data obtained were analyzed using IBM SPSS Statistics version 20. Frequencies were generated, and chi-square test was used to explore associations. The level of significance was set at 0.05. Result: The majority of the respondents were aware of family planning 410 (73.1%). The method most commonly known was male condom 348 (62.0%), then pills 276 (49.2%) and injectables 231(41.3%). The commonest sources of information on family planning were health workers 158 (26.8%), outreaches 162 (27.5%) and TV/radio 136 (23.1%). Respondents that had used family planning, however, only constituted forty–five percent. The methods commonly used were injectables 104 (39.2%) and pills 85 (32.1%). Reasons for choosing not to use family planning include the desire for more children 78 (26.3%), because spouse does not support family planning 56 (18.9%), fear of unbearable side effects 44 (14.9%), and poor knowledge of the methods of family planning as well as where the services can be obtained 39 (13.2%). There is a statistically significant association between age, ethnicity, education, occupation, average monthly income, and use of family planning. Conclusion: Campaigns that promote male involvement in family planning, use of family planning for child spacing, and dispelling of fears is recommended to improve the practice of family planning among such a group of women.

Keywords: family planning, rural, knowledge, practice

Procedia PDF Downloads 118
4276 Psychological Nano-Therapy: A New Method in Family Therapy

Authors: Siamak Samani, Nadereh Sohrabi

Abstract:

Psychological nano-therapy is a new method based on systems theory. According to the theory, systems with severe dysfunctions are resistant to changes. Psychological nano-therapy helps the therapists to break this ice. Two key concepts in psychological nano-therapy are nano-functions and nano-behaviors. The most important step in psychological nano-therapy in family therapy is selecting the most effective nano-function and nano-behavior. The aim of this study was to check the effectiveness of psychological nano-therapy for family therapy. One group pre-test-post-test design (quasi-experimental Design) was applied for research. The sample consisted of ten families with severe marital conflict. The important character of these families was resistance for participating in family therapy. In this study, sending respectful (nano-function) text massages (nano-behavior) with cell phone were applied as a treatment. Cohesion/respect sub scale from self-report family processes scale and family readiness for therapy scale were used to assess all family members in pre-test and post-test. In this study, one of family members was asked to send a respectful text massage to other family members every day for a week. The content of the text massages were selected and checked by therapist. To compare the scores of families in pre-test and post-test paired sample t-test was used. The results of the test showed significant differences in both cohesion/respect score and family readiness for therapy between per-test and post-test. The results revealed that these families have found a better atmosphere for participation in a complete family therapy program. Indeed, this study showed that psychological nano-therapy is an effective method to make family readiness for therapy.

Keywords: family therapy, family conflicts, nano-therapy, family readiness

Procedia PDF Downloads 631
4275 A Family Development Approach to Understanding the Transfer of Family Business Ownership

Authors: Susan Lanz, Gary T. Burke, Omid Omidvar

Abstract:

The intention to transfer ownership control across family generations is acknowledged to be central to developing a theoretical understanding of how family businesses differ and are distinct as a business group. However, in practice, most business-owning families face challenges to transfer their business ownership from one family generation to the next. To date, researchers have paid little attention to how and when ownership is passed across family generations and what the dynamics of such transitions are. This is primarily due to the prevailing assumption that ownership transfer is an unimportant and legalistic issue that occurs within a wider family management succession process. Yet, the limited evidence available suggests that family ownership transfer occurs inside and outside of the management succession process and is a difficult process for business-owning families to navigate. As a result, many otherwise viable family businesses are closing, leading to unnecessary loss of jobs and knowledge. This qualitative paper examines how family members understand and navigate the ownership transfer process. This study uses an inductive qualitative research design, conducted through in-depth interviews within eight business-owning families. It draws on family development theory and shows how a wide range of family-related events and dynamics outside of family business involvement underlie and shape the ownership transfer process. The findings extend the theory on how these events trigger ownership transfer and how they shape the ownership meanings held within business-owning families. This study found that ownership transfer meanings extend beyond that of transferring the legal control and financial appropriation rights of shareholders. The study concludes there are three different stages in the process of ownership transfer -symbolic, re-balancing, and protectionist. Each stage creates distinct family social constructions of the rights of family members to hold business ownership, and each stage occurs within a specific family development phase.

Keywords: business-owning family, family development theory, ownership transfer, process

Procedia PDF Downloads 128
4274 Exploring Long-Term Care Support Networks and Social Capital for Family Caregivers

Authors: Liu Yi-Hui, Chiu Fan-Yun, Lin Yu Fang, Jhang Yu Cih, He You Jing

Abstract:

The demand for care support has been rising with the aging of society and the advancement of medical science and technology. To meet rising demand, the Taiwanese government promoted the “Long Term Care Ten-Year Plan 2.0” in 2017. However, this policy and its related services failed to be fully implemented because of the ignorance of the public, and their lack of desire, fear, or discomfort in using them, which is a major obstacle to the promotion of long-term care services. Given the above context, this research objectives included the following: (1) to understand the current situation and predicament of family caregivers; (2) to reveal the actual use and assistance of government’s long-term care resources for family caregivers; and (3) to explore the support and impact of social capital on family caregivers. A semi-structured in-depth interview with five family caregivers to understand long-term care networks and social capital for family caregivers.

Keywords: family caregivers, long-term care, social capital

Procedia PDF Downloads 117
4273 Elucidation of the Sequential Transcriptional Activity in Escherichia coli Using Time-Series RNA-Seq Data

Authors: Pui Shan Wong, Kosuke Tashiro, Satoru Kuhara, Sachiyo Aburatani

Abstract:

Functional genomics and gene regulation inference has readily expanded our knowledge and understanding of gene interactions with regards to expression regulation. With the advancement of transcriptome sequencing in time-series comes the ability to study the sequential changes of the transcriptome. This method presented here works to augment existing regulation networks accumulated in literature with transcriptome data gathered from time-series experiments to construct a sequential representation of transcription factor activity. This method is applied on a time-series RNA-Seq data set from Escherichia coli as it transitions from growth to stationary phase over five hours. Investigations are conducted on the various metabolic activities in gene regulation processes by taking advantage of the correlation between regulatory gene pairs to examine their activity on a dynamic network. Especially, the changes in metabolic activity during phase transition are analyzed with focus on the pagP gene as well as other associated transcription factors. The visualization of the sequential transcriptional activity is used to describe the change in metabolic pathway activity originating from the pagP transcription factor, phoP. The results show a shift from amino acid and nucleic acid metabolism, to energy metabolism during the transition to stationary phase in E. coli.

Keywords: Escherichia coli, gene regulation, network, time-series

Procedia PDF Downloads 345
4272 Identification of Genes Regulating Differentiation and Stemness of Human Mesenchymal Stem Cells for Gene Therapy in Regenerative Medicine

Authors: Tong Ming Liu

Abstract:

Human mesenchymal stem cells (MSCs) represent the most used stem cells for clinical application, which have been used in over 1000 clinical trials to treat over 30 diseases due to multilineage differentiation potential, secretome and immunosuppression. Gene therapies of MSCs hold great promise in the treatment of many diseases due to enhanced MSC-based clinical outcomes. To identify genes for gene therapy of MSCs, by comparing gene expression profile before and after MSC differentiation following by functional screening, we have identified ZNF145 that regulated MSC differentiation. Forced expression of ZNF145 resulted in enhanced in vitro chondrogenesis of MSCs as an upstream factor of SOX9 and improved osteochondral repair upon implant into osteochondral defects in rodents. By comparing gene expression profile during differentiation of iPSCs toward MSCs, we also identified gene HOX regulating MSC stemness, which was much downregulated in late-passaged MSCs. Knockdown of this gene greatly compromised MSC stemness including abolished proliferation, decreased CFU-F, promoted senescence and reduced expression of cell surface antigens linked to the MSC phenotype. In addition, multi-linage differentiation was also greatly impaired. Notably, HOX overexpression resulted in improved multi-lineage differentiation. In the mechanism, HOX expression significantly deceased in late passage of MSCs compared with early passage of MSCs, correlating with MSC important genes. ChIP-seq data shown that HOX binds to genes related to MSC self-renewal and differentiation. Most importantly, most HOX binding sites are lost in late passage of MSCs. HOX exerts its effects by directing binding Twist1, one important gene of MSCs. The identification of the genes regulating MSC differentiation and stemness will provide and promising strategies for gene therapy of MSCs in regenerative medicine.

Keywords: mesenchymal stem cell, novel transcription factor, stemness, gene therapy, cartilage repair, signaling pathway

Procedia PDF Downloads 29
4271 The Efficiency of Cytochrome Oxidase Subunit 1 Gene (cox1) in Reconstruction of Phylogenetic Relations among Some Crustacean Species

Authors: Yasser M. Saad, Heba El-Sebaie Abd El-Sadek

Abstract:

Some Metapenaeus monoceros cox1 gene fragments were isolated, purified, sequenced, and comparatively analyzed with some other Crustacean Cox1 gene sequences (obtained from National Center for Biotechnology Information). This work was designed for testing the efficiency of this system in reconstruction of phylogenetic relations among some Crustacean species belonging to four genera (Metapenaeus, Artemia, Daphnia and Calanus). The single nucleotide polymorphism and haplotype diversity were calculated for all estimated mt-DNA fragments. The genetic distance values were 0.292, 0.015, 0.151, and 0.09 within Metapenaeus species, Calanus species, Artemia species, and Daphnia species, respectively. The reconstructed phylogenetic tree is clustered into some unique clades. Cytochrome oxidase subunit 1 gene (cox1) was a powerful system in reconstruction of phylogenetic relations among evaluated crustacean species.

Keywords: crustaceans, genetics, Cox1, phylogeny

Procedia PDF Downloads 334
4270 Associations between Polymorphism of Growth Hormone Gene on Milk Production, Fat and Protein Content in Friesian Holstein Cattle

Authors: Tety Hartatik, Dian Kurniawati, Adiarto

Abstract:

The aim of the research was to determine the associations between polymorphism of the bovine growth hormone (GH) gene (Leu/Val, L/V) and milk production of Friesian Holstein Cattle. A total of 62 cows which consist of two Friesian Holstein groups (cattle from New Zealand are 19 heads and cattle from Australia are 43 heads). We perform the PCR and RFLP method for analyzing the genotype of the target gene GH 211 bp in the part of intron 4 and exon 5 of GH gene. The frequencies of genotypes LL were higher than genotype LV. The number of genotype LL in New Zealand and Australia groups are 84% and 79%, respectively. The number of genotype LV in New Zealand and Australia groups are 16% and 21%, respectively. The association between Leu/Val polymorphism on milk production, fat and protein content in both groups does not show the significant effect. However base on the groups (cows from New Zealand compare with those from Australia) show the significant effect on fat and protein content.

Keywords: Friesian Holstein, fat content, growth hormone gene, milk production, PCR-RLFP, protein content

Procedia PDF Downloads 627