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南印度人群2型糖尿病中SOD1基因+35A/C(外显子3/内含子3)多态性

SOD1 Gene +35A/C (exon3/intron3) Polymorphism in Type 2 Diabetes Mellitus among South Indian Population.

作者信息

Nithya K, Angeline T, Isabel W, Asirvatham A J

机构信息

PG & Research Department of Zoology & Biotechnology, Lady Doak College, Madurai, Tamil Nadu 625 002, India.

Arthur Asirvatham Hospital, Madurai, Tamil Nadu 625 020, India.

出版信息

Genet Res Int. 2016;2016:3787268. doi: 10.1155/2016/3787268. Epub 2016 Apr 17.

Abstract

Superoxide dismutase is an antioxidant enzyme that is involved in defence mechanisms against oxidative stress. Cu/Zn SOD is a variant that is located in exon3/intron3 boundary. The aim of the present study was to investigate whether the Cu/Zn SOD (+35A/C) gene polymorphism is associated with the susceptibility to type 2 diabetes mellitus among south Indian population. The study included patients with type 2 diabetes mellitus (n = 100) and healthy controls (n = 75). DNA was isolated from the blood and genotyping of Cu/Zn SOD gene polymorphism was done by polymerase chain reaction based restriction fragment length polymorphism method. Occurrence of different genotypes and normal (A) and mutant (C) allele frequencies were determined. The frequency of the three genotypes of the total subjects was as follows: homozygous wild-type A/A (95%), heterozygous genotype A/C (3%), and homozygous mutant C/C (2%). The mutant (C) allele and the mutant genotypes (AC/CC) were found to be completely absent among the patients with type 2 diabetes mellitus. Absence of mutant genotype (CC) shows that the Cu/Zn SOD gene polymorphism may not be associated with the susceptibility to type 2 diabetes mellitus among south Indian population.

摘要

超氧化物歧化酶是一种抗氧化酶,参与对抗氧化应激的防御机制。铜/锌超氧化物歧化酶是位于外显子3/内含子3边界的一种变体。本研究的目的是调查铜/锌超氧化物歧化酶(+35A/C)基因多态性是否与南印度人群中2型糖尿病的易感性相关。该研究纳入了2型糖尿病患者(n = 100)和健康对照者(n = 75)。从血液中提取DNA,并通过基于聚合酶链反应的限制性片段长度多态性方法对铜/锌超氧化物歧化酶基因多态性进行基因分型。确定了不同基因型以及正常(A)和突变(C)等位基因的频率。所有受试者三种基因型的频率如下:纯合野生型A/A(95%)、杂合基因型A/C(3%)和纯合突变型C/C(2%)。在2型糖尿病患者中未发现突变(C)等位基因和突变基因型(AC/CC)。突变基因型(CC)的缺失表明铜/锌超氧化物歧化酶基因多态性可能与南印度人群中2型糖尿病的易感性无关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a430/4852105/dcf4a8e7cf37/GRI2016-3787268.001.jpg

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