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首页> 外文期刊>Genetic testing and molecular biomarkers >GATA4 Specific Nonsynonymous Single-Nucleotide Polymorphisms in Congenital Heart Disease Patients of Mysore, India
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GATA4 Specific Nonsynonymous Single-Nucleotide Polymorphisms in Congenital Heart Disease Patients of Mysore, India

机译:GATA4具体产生的单核苷酸多态性在先天性心脏病印度迈索尔的病人

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摘要

Congenital heart disease (CHD) is the most common type of birth defect, affecting 1% of all live births. The recent exponential increase in the knowledge of medical genetics has revolutionized the understanding of CHDs during the past few decades. GATA4, a transcription factor, is involved in heart development. There are many contradictory reports on involvement of single-nucleotide polymorphisms (SNPs) of GATA4 in the manifestation of CHD. In view of this, an attempt has been made to analyze the known SNPs of GATA4 in Mysore patients with CHD. Of the 308 CHD patients recruited, 100 were screened for SNPs of GATA4 by MassARRAY, which identified 11 SNPs, of which 6 were found in both CHD cases and controls. The other 5 SNPs, c.278G >C (G93A),c.1207C >A (L403M), c.1232C > T (A411V), c.1295T >C (L432S), and c.1180C >G (P394A), were found only in CHD patients. Secondary structure analysis revealed that mutant proteins with the SNPs G93A, L403M, and L432S showed structural changes in their helix, sheet, and turn. Thus, these findings suggest the involvement of specific SNPs of GATA4 in the manifestation of CHD, reported for the first time in an Indian scenario. However,screening for a larger number of CHD patients would help us to establish genotype–phenotype correlation.
机译:先天性心脏病(CHD)是最常见的类型的先天缺陷,影响1%的所有生活出生。医学遗传学的知识革命在过去的几对冠心病的理解几十年。参与心脏的发展。相互矛盾的报道的参与单核苷酸多态性(snp) GATA4在冠心病的表现。一直尝试分析已知的snp在迈索尔GATA4冠心病患者。冠心病患者招募,100人筛查snp的GATA4 MassARRAY,确定11单核苷酸多态性,其中6在冠心病病例和被发现控制。(G93A)、c。c.1295T > C (L432S), c.1180C > G (P394A)发现只有在冠心病患者。分析表明,突变体蛋白质的snp G93A、L403M L432S显示结构螺旋的变化、表和转弯。这些发现显示的参与特定的snp GATA4的表现冠心病,报告首次在一个印度人场景。冠心病患者将帮助我们建立genotype-phenotype相关性。

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