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非胰岛素依赖型糖尿病家族中阿黑皮素原基因的分析。

Analysis of the pro-opiomelanocortin gene in non-insulin dependent diabetic families.

作者信息

O'Rahilly S, Patel P, Wainscoat J S, Turner R C

机构信息

Diabetes Research Laboratories, Radcliffe Infirmary, Oxford, UK.

出版信息

Diabetes Res. 1989 Mar;10(3):125-8.

PMID:2805586
Abstract

Products of the pro-opiomelanocortin gene have been shown to have marked effects on insulin secretion. Selective antagonists of beta-endorphin have been reported to correct the impaired insulin secretory response to glucose seen in non-insulin dependent diabetes. Families with an autosomal dominant pattern of inheritance of diabetes were studied for possible linkage between diabetes and the pro-opiomelanocortin locus by examining the inheritance of a Rsa 1 restriction fragment length polymorphism. In two families with classical Type 2 diabetes there were recombinants between the disease and the pro-opiomelanocortin locus. In a family with maturity-onset diabetes of the young there were only two informative meoises, but there was a crossover between the disease and the pro-opiomelanocortin gene locus. Inherited defects in or near the pro-opiomelanocortin gene locus are unlikely to be directly involved in the aetiology of non-insulin dependent diabetes.

摘要

促阿片-黑素细胞皮质素原基因的产物已被证明对胰岛素分泌有显著影响。据报道,β-内啡肽的选择性拮抗剂可纠正非胰岛素依赖型糖尿病患者中观察到的对葡萄糖受损的胰岛素分泌反应。通过检查Rsa 1限制性片段长度多态性的遗传情况,对具有常染色体显性糖尿病遗传模式的家庭进行研究,以确定糖尿病与促阿片-黑素细胞皮质素原基因座之间是否可能存在连锁关系。在两个患有典型2型糖尿病的家庭中,疾病与促阿片-黑素细胞皮质素原基因座之间存在重组。在一个患有青年成熟期糖尿病的家庭中,只有两个信息丰富的减数分裂,但疾病与促阿片-黑素细胞皮质素原基因座之间存在交叉。促阿片-黑素细胞皮质素原基因座内或附近的遗传缺陷不太可能直接参与非胰岛素依赖型糖尿病的病因。

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