Field L L, Goldstein A, Spence M A, Anderson C E, Rimoin D L
Genet Epidemiol. 1984;1(4):375-82. doi: 10.1002/gepi.1370010409.
We studied 52 families having more than one member affected with insulin-dependent diabetes mellitus (IDDM) for linkage of an IDDM-susceptibility locus to the immunoglobulin loci KM and GM. Linkage was analyzed by the LOD score method using single-locus recessive and dominant models of IDDM inheritance, with penetrances of the disease-susceptible genotypes being dependent on age and reaching a maximum of 20% by age 40. We found no evidence for linkage of IDDM to KM or GM. Close linkage (recombination fraction less than 5%) was rejected for KM under the recessive model and for GM under both models. These results suggest either that there are no IDDM-susceptibility loci closely linked to KM or GM or that use of a single-locus model of IDDM (which ignores the effects of the susceptibility locus in the HLA region) is inadequate for their detection.
我们研究了52个有多例成员患胰岛素依赖型糖尿病(IDDM)的家庭,以确定IDDM易感基因座与免疫球蛋白基因座KM和GM之间的连锁关系。采用LOD评分法,利用IDDM遗传的单基因座隐性和显性模型进行连锁分析,疾病易感基因型的外显率取决于年龄,到40岁时最高可达20%。我们没有发现IDDM与KM或GM存在连锁关系的证据。在隐性模型下,KM以及在两种模型下GM的紧密连锁(重组率小于5%)均被排除。这些结果表明,要么不存在与KM或GM紧密连锁的IDDM易感基因座,要么使用IDDM的单基因座模型(该模型忽略了HLA区域中易感基因座的作用)不足以检测到它们。