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[胰岛素依赖型青少年糖尿病的遗传学]

[Genetics of insulin-dependent juvenile diabetes].

作者信息

Raffoux C, Streiff F, Pointel J P, Debry G

出版信息

C R Seances Soc Biol Fil. 1980;174(6):1077-83.

PMID:6451269
Abstract

Since the works of Singal and al. and Nerup and al., an increase in B 8, B 15 and B 18 antigens has been found in Insulin Dependent Diabetes. Thomson and al., Rubinstein and al. and the authors of this paper have shown an stronger association with DRw 3 and DRw 4 antigens. We investigated the genetic predisposition to juvenile diabetes in 22 families of 48 cases and 96 members. The study of one affected child in each family showed that DRw 3 was found in 63,63% and DRw 4 in 59,59% (healthy 16,22%)--RR = 9,0 and 7,49. The hypothesis of overdominance proposed by Nerup can be confirmed by our data, when I.D.D.M. share two different alleles (DRw 3 and DRw 4). 3 particular haplotypes with linkage imbalance are therefore observed in our series: B 8-Bf S-DRw 3, B 15-Bf F-DRw 4 and B 8-Bf F 1-DRw 3. Our date show a excessive transmission of the diabetic haplotype by parents who are either diabetics or carriers of the gene.

摘要

自辛格尔等人以及内鲁普等人的研究以来,在胰岛素依赖型糖尿病中已发现B8、B15和B18抗原增加。汤姆森等人、鲁宾斯坦等人以及本文作者已表明与DRw3和DRw4抗原的关联更强。我们调查了22个家庭中48例患者和96名成员患青少年糖尿病的遗传易感性。对每个家庭中一名患病儿童的研究表明,DRw3的出现率为63.63%,DRw4为59.59%(健康人群中为16.22%)——相对危险度分别为9.0和7.49。当胰岛素依赖型糖尿病患者携带两种不同等位基因(DRw3和DRw4)时,内鲁普提出的超显性假说可被我们的数据证实。因此,在我们的研究系列中观察到3种具有连锁不平衡的特定单倍型:B8 - Bf S - DRw3、B15 - Bf F - DRw4和B8 - Bf F1 - DRw3。我们的数据显示,糖尿病单倍型在父母一方为糖尿病患者或基因携带者的情况下过度传递。

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