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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。

Application of the lod score method to detection of linkage between HLA and juvenile insulin-dependent diabetes.

作者信息

Clerget-Darpoux F, Bonaiti-Pellie C, Hors J, Deschamps I, Feingold N

出版信息

Clin Genet. 1980 Jul;18(1):51-7. doi: 10.1111/j.1399-0004.1980.tb01365.x.

Abstract

The lod score method has been applied to 28 informative families with at least one child suffering from juvenile insulin-dependent diabetes (JIDD), assuming autosomal recessive inheritance, for detection of linkage between HLA and a susceptibility locus for this disease. These 28 families were pooled with 21 other families from the literature. The maximum lod scores were obtained for recombination fractions from 4 to 16%, according to the level of penetrance (10 to 90%). These high estimates of the recombination fraction are not in agreement with the hypothesis that the association between JIDD and specific HLA haplotypes is due to a simple linkage disequilibrium between the HLA region and a susceptibility locus for JIDD.

摘要

采用对数优势计分法对28个信息丰富的家系进行研究,这些家系中至少有一个孩子患有青少年胰岛素依赖型糖尿病(JIDD),假设为常染色体隐性遗传,以检测HLA与该疾病易感性位点之间的连锁关系。这28个家系与文献中的其他21个家系合并。根据外显率水平(10%至90%),重组率在4%至16%时获得了最大对数优势计分。这些对重组率的高估值与以下假设不一致,即JIDD与特定HLA单倍型之间的关联是由于HLA区域与JIDD易感性位点之间的简单连锁不平衡。

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