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对有和没有阳性家族史的青少年糖尿病患者以及有一个和两个糖尿病兄弟姐妹的家庭进行 HLA 分型。

HLA-typing in juvenile diabetics with and without positive family history and in families with one and two diabetic siblings.

作者信息

Bengsch N, Köbberling J, Eckert G, Willms B

出版信息

Diabetologia. 1978 Dec;15(6):447-51. doi: 10.1007/BF02342868.

Abstract

HLA-typing was performed in two groups of juvenile-onset diabetics, one with (n = 58) and one without (n = 109) a family history of the disease. The association of this type of diabetes with certain HLA antigens (excess of B8 and B15, shortage of B7) was confirmed. No heterogeneities could be established between the two groups. This suggests that the aetiologic basis in single and familial cases of juvenile diabetes is the same. The hypothesis, that the B8 associated gene is more penetrant than the B15 associated gene, cannot be confirmed. Haplotypes were determined in families with one and two diabetic siblings. The findings of high haplotype concordance among diabetic siblings was confirmed: concordance of 2, 1 and 0 haplotypes in 7, 5 and 3 pairs respectively. There was a low degree of haplotype concordance between diabetics and nonaffected siblings in the families with two diabetics: 2, 1, and 0 haplotypes in 2, 8 and 6 pairs respectively. This led to the hypothesis of negative selection against these HLA-linked "diabetogenic" genes. This tendency was not, however, observed in families with only one diabetic. The report of a high recombination rate in families with juvenile diabetics could not be confirmed.

摘要

对两组青少年发病的糖尿病患者进行了HLA分型,一组有该疾病家族史(n = 58),另一组无家族史(n = 109)。证实了这种类型的糖尿病与某些HLA抗原的关联(B8和B15增多,B7减少)。两组之间未发现异质性。这表明青少年糖尿病单发病例和家族病例的病因基础相同。B8相关基因比B15相关基因更具穿透性这一假设无法得到证实。对有一名和两名糖尿病兄弟姐妹的家庭进行了单倍型测定。糖尿病兄弟姐妹之间单倍型高度一致的结果得到了证实:7对、5对和3对中分别有2个、1个和0个单倍型一致。在有两名糖尿病患者的家庭中,糖尿病患者和未患病兄弟姐妹之间的单倍型一致程度较低:2对、8对和6对中分别有2个、1个和0个单倍型一致。这导致了对这些与HLA连锁的“致糖尿病”基因进行负选择的假设。然而,在只有一名糖尿病患者的家庭中未观察到这种趋势。青少年糖尿病患者家庭中高重组率的报告无法得到证实。

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