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对有多例类风湿性关节炎病例的家族进行基因分析。

Genetic analysis of families with multiple cases of rheumatoid arthritis.

作者信息

Yamashita T S, Khan M A, Kushner I

机构信息

Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106.

出版信息

Dis Markers. 1986 Jun;4(1-2):113-9.

PMID:3482984
Abstract

We examined the inheritance of susceptibility to RA in families with multiple cases of RA, and studied existence of any linkage between the putative RA disease susceptibility locus and the HLA-DR locus. A pedigree analysis programme, PAP, was used for both analyses. Our investigation suggests that familial RA is the effect, in part, of an inherited autosomal dominant susceptibility gene with incomplete penetrance rather than that of a recessive gene. Linkage analysis indicates a tight linkage between the putative RA disease susceptibility locus and the HLA-DR locus under an autosomal dominant mode of inheritance.

摘要

我们研究了有多例类风湿关节炎(RA)患者的家庭中RA易感性的遗传情况,并研究了假定的RA疾病易感基因座与HLA - DR基因座之间是否存在任何连锁关系。两项分析均使用了谱系分析程序PAP。我们的研究表明,家族性RA部分是由具有不完全外显率的常染色体显性遗传易感基因所致,而非隐性基因所致。连锁分析表明,在常染色体显性遗传模式下,假定的RA疾病易感基因座与HLA - DR基因座之间存在紧密连锁关系。

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