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儿童胰岛素依赖型糖尿病的遗传学

Genetics of insulin-dependent diabetes mellitus in children.

作者信息

Ludvigsson J

出版信息

Pediatrician. 1983;12(4):166-72.

PMID:6400448
Abstract

Insulin-dependent diabetes in children is a heritable disease, although it does not fit into any simple genetic model. Research is not facilitated by the lack of knowledge of the different etiological mechanisms and the inability to classify the disease. Human leucocyte antigens (HLAs) coded for in the major histocompatibility complex on the 6th chromosome have given the most important insights into the genetics of diabetes, and these genes probably provide the majority of genetic susceptibility to type-I diabetes. Several facts indicate that there are at least two loci of importance, one associated with HLA B8, DR3 and another with HLA B15, DR4, which probably are usually included in extended haplotypes in linkage disequilibrium. There seems to be a substantial DNA polymorphism and further studies may detect fragments that are even more strongly associated with diabetes than the DR type. A combination of more detailed immunological, perhaps virological or other environmental investigations on diabetic patients and their families, together with the use of specific DNA probes for the HLA region, might reveal the susceptibility genes.

摘要

儿童胰岛素依赖型糖尿病是一种遗传性疾病,尽管它并不符合任何简单的遗传模式。由于对不同病因机制缺乏了解且无法对该疾病进行分类,研究工作受到了阻碍。位于第6号染色体主要组织相容性复合体中的人类白细胞抗原(HLA)为糖尿病遗传学提供了最重要的见解,这些基因可能为I型糖尿病提供了大部分遗传易感性。有几个事实表明至少有两个重要的基因座,一个与HLA B8、DR3相关,另一个与HLA B15、DR4相关,它们可能通常包含在连锁不平衡的扩展单倍型中。似乎存在大量的DNA多态性,进一步的研究可能会检测到比DR类型与糖尿病关联更强的片段。对糖尿病患者及其家庭进行更详细的免疫学研究,或许还有病毒学或其他环境调查,并结合使用针对HLA区域的特定DNA探针,可能会揭示出易感基因。

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