Insulin dependent diabetes: A comparison of families with single and multiple affected siblings

Insulin dependent diabetes: A comparison of families with single and multiple affected siblings
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胰岛素依赖型糖尿病:具有单个和多个受影响兄弟姐妹的家庭的比较

DOI:
10.1007/bf00421852
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发表时间:
1980
期刊:
影响因子:
8.2
通讯作者:
R. Poirier
R. Poirier
中科院分区:
医学1区
文献类型:
--
作者:
M. Jaworski;Eleanor Colle;R. Guttmann;M. Belmonte;B. Taylor;M. Crepeau;J. Wilkins;R. Poirier

文献摘要

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有1个以上兄弟姐妹患有胰岛素依赖型糖尿病的家庭(n=14)与只有1个患病儿童的大小和年龄分布相似的家庭相匹配。比较两组患者的单倍型分布、发病年龄和发病季节。这些数据与单个常染色体隐性基因与人类白细胞抗原区域连锁的假设不一致。这些数据不允许在其他目前的假设之间进行选择,尽管它们与两个基因与人类白细胞抗原区域相连的理论兼容,这些基因是相加的,需要与环境因素或其他疾病易感基因相互作用。混合家庭和单纯家庭中的糖尿病儿童在出现症状的月份和确诊时的年龄方面没有区别,尽管发现了三个复合家庭,其中所有受影响的儿童在6岁之前都出现了糖尿病。
Families (n = 14) with more than 1 sibling with insulin dependent diabetes were matched with families of similarsizeand age distribution containing only 1 affected child. The distribution of HLA haplotypes, age of onset of disease, and seasonal onset of disease were compared in the two groups. The data are not consistent with the hypothesis of a single autosomal recessive gene linked to the HLA region. The data do not permit a choice between other current hypotheses although they are compatible with the theory of 2 genes linked to the HLA region, acting additively, and requiring interaction either with environmental factors or other disease susceptibility genes. Diabetic children in the multiplex and simplex families did not differ in the month of onset of symptoms nor in the age at diagnosis although three multiplex pedigrees in which diabetes developed in all affected children before the age of 6 years were identified.