Polymorphism in the 5' flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes.
Polymorphism in the 5' flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes.
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人胰岛素基因 5 侧翼区域的多态性：非胰岛素依赖型糖尿病的遗传标记。
DOI：
10.1056/nejm198301133080202
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发表时间：
1983
期刊：
影响因子：
--
通讯作者：
Permutt,MA
中科院分区：
文献类型：
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作者：
Rotwein,PS;Chirgwin,J;Province,M;Knowler,WC;Pettitt,DJ;Cordell,B;Goodman,HM;Permutt,MA
我们试图确定人类胰岛素基因或其直接侧翼序列的差异是否可以在糖尿病中发现。外周血白细胞DNA从217无关的人，包括黑人，白人，和皮马印第安人，进行了分析，限制性内切酶消化，印迹硝酸纤维素过滤器，杂交克隆[32 P]胰岛素基因探针。在33%的检测基因中，仅在紧邻5 '侧翼区域发现了长度变异区域，包括DNA缺失（0.1至0.2千碱基对）或插入（0.6至5.5 kb）。一个1.6 kb的插入占多态性的80%。这种变异在非胰岛素依赖型糖尿病患者中比非糖尿病患者更常见，与种族无关（P = 0.011）。胰岛素基因5′侧翼区的长度多态性可能是非胰岛素依赖型糖尿病的遗传标记。（《新英格兰医学杂志》1983年; 308：65-71）
We sought to determine whether differences in the human insulin gene or its immediate flanking sequences could be found in diabetes. Peripheral leukocyte DNA from 217 unrelated persons, including blacks, whites, and Pima Indians, was analyzed by restriction-enzyme digestion, blotting to nitrocellulose filters, and hybridization to cloned [32P]insulin-gene probes. A region of length variation including deletions (0.1 to 0.2 kilo-base pairs) or insertions (0.6 to 5.5 kb) of DNA was found only in the immediate 5′ flanking region in 33 per cent of the genes examined. A 1.6-kb insertion accounted for 80 per cent of the polymorphism. This variant was found more often in subjects with non-insulin-dependent diabetes than in nondiabetics, regardless of race (P = 0.011). Length polymorphism in the 5′ flanking region of the insulin gene may provide a genetic marker for non-insulin-dependent diabetes. (N Engl J Med. 1983; 308:65–71.)