两个患有胰岛素依赖型糖尿病的同胞中的人类白细胞抗原DR2（HLA - DR2）
HLA-DR2 in two sibships with insulin-dependent diabetes mellitus.
作者信息
Deschamps I, Lestradet H, Schmid M, Hors J
出版信息
J Med Genet. 1983 Oct;20(5):365-6. doi: 10.1136/jmg.20.5.365.
Abstract
We report two families selected from 124 genotyped Caucasian insulin-dependent diabetes mellitus (IDDM) families because of unusual features. In both families, all offspring are affected and four out of six bear the allele HLA-DR2 which is an uncommon phenotype among diabetic patients. Onset before the age of 1 year in all the patients of one family, association with optic atrophy in the other, and the existence of pairs of affected sibs of different HLA types in both, are infrequent findings and support the evidence of heterogeneity in IDDM.
摘要
我们报告了从124个已进行基因分型的白种人胰岛素依赖型糖尿病（IDDM）家庭中挑选出的两个家庭，原因是它们具有不同寻常的特征。在这两个家庭中，所有后代均患病，并且六个中有四个携带HLA - DR2等位基因，这在糖尿病患者中是一种不常见的表型。其中一个家庭的所有患者发病年龄均在1岁之前，另一个家庭的患者伴有视神经萎缩，而且两个家庭中都存在不同HLA类型的患病同胞对，这些都是罕见的发现，并支持了IDDM存在异质性的证据。
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本文引用的文献
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HLA genotype studies in juvenile insulin-dependent diabetes.青少年胰岛素依赖型糖尿病的人类白细胞抗原基因型研究。
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HLA and disease: predictions for HLA haplotype sharing in families.人类白细胞抗原与疾病：家庭中人类白细胞抗原单倍型共享的预测
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Type I (insulin dependent) diabetes mellitus. Is there strong evidence for a non-HLA linked gene?I型（胰岛素依赖型）糖尿病。是否有强有力的证据支持存在一个与非HLA相关的基因？
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Application of the lod score method to detection of linkage between HLA and juvenile insulin-dependent diabetes.对数计分法在检测HLA与青少年胰岛素依赖型糖尿病之间连锁关系中的应用。
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5
HLA-D and -DR antigens in genetic analysis of insulin dependent diabetes mellitus.HLA-D和-DR抗原在胰岛素依赖型糖尿病的遗传分析中
Diabetologia. 1981 Aug;21(2):108-15. doi: 10.1007/BF00251276.
6
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Wolfram syndrome not HLA linked.沃夫勒姆综合征与 HLA 无关联。
N Engl J Med. 1979 Dec 20;301(25):1398-9. doi: 10.1056/nejm197912203012515.
8
Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.青少年糖尿病、视神经萎缩、听力丧失、尿崩症、泌尿道和膀胱张力缺乏以及其他异常情况（沃尔弗拉姆综合征）。对文献中88例病例的综述以及对3例新患者的个人观察。
Acta Paediatr Scand Suppl. 1977(264):1-16. doi: 10.1111/j.1651-2227.1977.tb15069.x.
9
HLA genetic heterogeneity in diabetes mellitus.糖尿病中的HLA基因异质性。
Br Med Bull. 1978 Sep;34(3):285-9. doi: 10.1093/oxfordjournals.bmb.a071513.
10
HLA-Dw2 as a marker of resistance against juvenile diabetes mellitus.人类白细胞抗原-Dw2作为青少年糖尿病抵抗标志物
Tissue Antigens. 1978 Feb;11(2):144-6. doi: 10.1111/j.1399-0039.1978.tb01239.x.
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