Jaworski M A, Colle E, Guttmann R D, Belmonte M M, Taylor B, Crepeau M P, Wilkins J, Poirier R
Diabetologia. 1980 Aug;19(2):97-100. doi: 10.1007/BF00421852.
Families (n = 14) with more than 1 sibling with insulin dependent diabetes were matched with families of similar size and 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.
将14个有不止1个患胰岛素依赖型糖尿病兄弟姐妹的家庭与规模和年龄分布相似但仅有1个患病孩子的家庭进行匹配。比较了两组的HLA单倍型分布、疾病发病年龄和疾病季节性发病情况。数据与单个常染色体隐性基因与HLA区域连锁的假设不一致。尽管这些数据与2个与HLA区域连锁、起累加作用且需要与环境因素或其他疾病易感基因相互作用的基因理论相符,但并不允许在其他现有假设之间做出选择。尽管识别出了3个所有患病儿童在6岁前就患糖尿病的复合家系,但复合家庭和单纯家庭中的糖尿病儿童在症状出现月份和诊断年龄方面并无差异。