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胰岛素依赖型糖尿病(IDDM)先证者的多例患病家族的基因分析。

Genetic analysis of multiply-affected families of insulin-dependent diabetes mellitus (IDDM) probands.

作者信息

Murphy C C, Go R C, Acton R T, Barger B O, Roseman J M

出版信息

Hum Hered. 1983;33(6):344-56. doi: 10.1159/000153402.

Abstract

The present study combines segregation and linkage information on 30 families ascertained through a proband and a first degree relative affected with insulin-dependent diabetes mellitus (IDDM). An autosomal dominant model with incomplete penetrance was much more likely to fit the family data than a recessive model, whether or not linkage to HLA was assumed. The lod scores for linkage to HLA were 2.46 at theta M = theta F = 0.00 for dominant and 1.45 at theta M = theta F = 0.22 for a recessive model. The results are discussed in light of heterogeneity in likelihood and lod scores when the families are grouped by familial types, which indicate that the increase in likelihood of a dominant hypothesis can be attributed to the parent-child families and not the sib-sib families.

摘要

本研究结合了通过先证者及一名患有胰岛素依赖型糖尿病(IDDM)的一级亲属确诊的30个家庭的分离分析和连锁分析信息。无论是否假定与HLA连锁,常染色体显性不完全外显模型比隐性模型更适合家庭数据。显性模型在θM = θF = 0.00时与HLA连锁的lod分数为2.46,隐性模型在θM = θF = 0.22时lod分数为1.45。根据按家族类型分组时似然性和lod分数的异质性对结果进行了讨论,这表明显性假设似然性的增加可归因于亲子家庭而非同胞家庭。

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