Search results for: Heterozygous

Authors: K .Belhadi, H. Bousselsela, M. Yahia, A. Zidani, S. Benbia

Abstract:

Sickle cell anemia is a recessive genetic disease caused by the presence in the red blood cell, of abnormal hemoglobin called hemoglobin S. It results from the replacement in the beta chain of the acid glutamic acid by valin at position 6. Topics may be homozygous (SS) or heterozygous (AS) most often asymptomatic. Other mutations result in compound heterozygous: - Synthesis of hemoglobin C mutation in the sixth leucin codon (heterozygous SC); - ß-thalassemia (heterozygous S-ß thalassemia). SS homozygous, heterozygous SC and S- ß -thalassemia are grouped under the major sickle cell syndromes. To make a laboratory diagnosis of hemoglobinopathies in a portion of the population in region of Batna, our study was conducted on 115 patients with suspected sickle cell anemia, all cases have benefited from hematological tests as blood count (count RBC, calculated erythrocyte indices, MCV and MCHC, measuring the hemoglobin concentration) and a biochemical test in this case electrophoresis CAPILLARYS HEMOGLOBIN (E). The results showed: 27 cases of sickle cell anemia were found on 115 suspected cases, 73,03% homozygous sickle cell disease and 59,25% sickle cell trait. Finally, the double heterozygous S/C, represent the incidence rate of 3, 70%.

Keywords: Hemoglobin, sickle cell syndromes, laboratory diagnosis

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Authors: Surajit Debnath, Soma Addya

Abstract:

Human genome is not only the evolutionary summation of all advantageous events, but also houses lesions of deleterious foot prints. A single gene mutation sometimes may express multiple consequences in numerous tissues and a linear relationship of the genotype and the phenotype may often be obscure. ß Thalassemia minor, a transfusion independent mild anaemia, coupled with environment among other factors may articulate into phenotypic pleotropy with Hypocholesterolemia, Vitamin D deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological alterations. Occurrence of Pancreatic insufficiency, resultant steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2 4.60% and Hb Adult 84.80% and altered Hemogram) with increased Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2 (9.5mg/ml) indicate towards a cascade of phenotypic pleotropy where the ß Thalassemia mutation ,be it in the 5’ cap site of the mRNA , differential splicing etc in heterozygous state is effecting several metabolic pathways. Compensatory extramedulary hematopoiesis may not coped up well with the stressful life style of the young individual and increased erythropoietic stress with high demand for cholesterol for RBC membrane synthesis may have resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia may have caused the pancreatic insufficiency, leading to Vitamin D deficiency. This may in turn have caused the secondary hyperparathyroidism to sustain serum Calcium level. Irritability and stress intolerance of the patient was a cumulative effect of the vicious cycle of metabolic compromises. From these findings we propose that the metabolic deficiencies in the ß Thalassemia mutations may be considered as the phenotypic display of the pleotropy to explain the genetic epidemiology. According to the recommendations from the NIH Workshop on Gene-Environment Interplay in Common Complex Diseases: Forging an Integrative Model, study design of observations should be informed by gene-environment hypotheses and results of a study (genetic diseases) should be published to inform future hypotheses. Variety of approaches is needed to capture data on all possible aspects, each of which is likely to contribute to the etiology of disease. Speakers also agreed that there is a need for development of new statistical methods and measurement tools to appraise information that may be missed out by conventional method where large sample size is needed to segregate considerable effect. A meta analytic cohort study in future may bring about significant insight on to the title comment.

Keywords: Genetic disease, Genetic epidemiology, Heterozygous, Phenotype, Pleotropy, ß Thalassemia minor, Metabolic compromises.

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Authors: A. Doosti, P. Ghasemi Dehkordi, M. Zamani, S. Taheri, M. Banitalebi, M. Mahmoudzadeh

Abstract:

The p53 tumor suppressor gene plays two important roles in genomic stability: blocking cell proliferation after DNA damage until it has been repaired, and starting apoptosis if the damage is too critical. Codon 72 exon4 polymorphism (Arg72Pro) of the P53 gene has been implicated in cancer risk. Various studies have been done to investigate the status of p53 at codon 72 for arginine (Arg) and proline (Pro) alleles in different populations and also the association of this codon 72 polymorphism with various tumors. Our objective was to investigate the possible association between P53 Arg72Pro polymorphism and susceptibility to colorectal cancer among Isfahan and Chaharmahal Va Bakhtiari (a part of south west of Iran) population. We investigated the status of p53 at codon 72 for Arg/Arg, Arg/Pro and Pro/Pro allele polymorphisms in blood samples from 145 colorectal cancer patients and 140 controls by Nested-PCR of p53 exon 4 and digestion with BstUI restriction enzyme and the DNA fragments were then resolved by electrophoresis in 2% agarose gel. The Pro allele was 279 bp, while the Arg allele was restricted into two fragments of 160 and 119 bp. Among the 145 colorectal cancer cases 49 cases (33.79%) were homozygous for the Arg72 allele (Arg/Arg), 18 cases (12.41%) were homozygous for the Pro72 allele (Pro/Pro) and 78 cases (53.8%) found in heterozygous (Arg/Pro). In conclusion, it can be said that p53Arg/Arg genotype may be correlated with possible increased risk of this kind of cancers in south west of Iran.

Keywords: TP53, Polymorphism, Colorectal Cancer, Iran

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Authors: Mithilesh Singh, Rakhi Chaturvedi

Abstract:

Neem is a highly heterozygous and commercially important perennial plant. Conventionally, it is propagated by seeds which loose viability within two weeks. Strictly cross pollinating nature of the plant causes serious barrier to the genetic improvement by conventional methods. Alternative methods of tree improvement such as somatic hybridization, mutagenesis and genetic transformation require an efficient in vitro plant regeneration system. In this regard, somatic embryogenesis particularly secondary somatic embryogenesis may offer an effective system for large scale plant propagation without affecting the clonal fidelity of the regenerants. It can be used for synthetic seed production, which further bolsters conservation of this tree species which is otherwise very difficult The present report describes the culture conditions necessary to induce and maintain repetitive somatic embryogenesis, for the first time, in neem. Out of various treatments tested, the somatic embryos were induced directly from immature zygotic embryos of neem on MS + TDZ (0.1 μM) + ABA (4 μM), in more than 76 % cultures. Direct secondary somatic embryogenesis occurred from primary somatic embryos on MS + IAA (5 μM) + GA3 (5 μM) in 12.5 % cultures. Embryogenic competence of the explant as well as of the primary embryos was maintained for a long period by repeated subcultures at frequent intervals. A maximum of 10 % of these somatic embryos were converted into plantlets.

Keywords: Azadirachta indica A. Juss., Cytokinin, Somatic embryogenesis, zygotic embryo culture.

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Authors: Ratnakar Tripathi, Rajnikant Mishra

Abstract:

The PAX6, a transcription factor, is essential for the morphogenesis of the eyes, brain, pituitary and pancreatic islets. In rodents, the loss of Pax6 function leads to central nervous system defects, anophthalmia, and nasal hypoplasia. The haplo-insufficiency of Pax6 causes microphthalmia, aggression and other behavioral abnormalities. It is also required in brain patterning and neuronal plasticity. In human, heterozygous mutation of Pax6 causes loss of iris [aniridia], mental retardation and glucose intolerance. The 3- deletion in Pax6 leads to autism and aniridia. The phenotypes are variable in peneterance and expressivity. However, mechanism of function and interaction of PAX6 with other proteins during development and associated disease are not clear. It is intended to explore interactors of PAX6 to elucidated biology of PAX6 function in the tissues where it is expressed and also in the central regulatory pathway. This report describes In-silico approaches to explore interacting proteins of PAX6. The models show several possible proteins interacting with PAX6 like MITF, SIX3, SOX2, SOX3, IPO13, TRIM, and OGT. Since the Pax6 is a critical transcriptional regulator and master control gene of eye and brain development it might be interacting with other protein involved in morphogenesis [TGIF, TGF, Ras etc]. It is also presumed that matricelluar proteins [SPARC, thrombospondin-1 and osteonectin etc] are likely to interact during transport and processing of PAX6 and are somewhere its cascade. The proteins involved in cell survival and cell proliferation can also not be ignored.

Keywords: Interacting Proteins, Pax6, PIP, STRING

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