HLA与21-羟化酶缺乏症之间的连锁与关联。
Linkage and association between HLA and 21-hydroxylase deficiency.
作者信息
Klouda P T, Harris R, Price D A
出版信息
J Med Genet. 1980 Oct;17(5):337-41. doi: 10.1136/jmg.17.5.337.
Abstract
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency is closely linked to the HLA system. The lod scores in 14 informative families are presented. Apart from linkage, the 21-hydroxylase deficiency is associated with an increase of BW47 antigen and lack of B8 antigen in patients. A family with a possible recombination between the 21-hydroxylase deficiency and the HLA complex was found, thus indicating that the 21-hydroxylase gene lies outside the HLA system and is closely linked to the HLA-DR locus.
摘要
由于21-羟化酶缺乏所致的先天性肾上腺皮质增生与HLA系统密切相关。本文给出了14个信息充分的家系的连锁分析计分。除连锁关系外，21-羟化酶缺乏的患者还伴有BW47抗原增加及B8抗原缺失。发现一个家系中21-羟化酶缺乏与HLA复合体之间可能发生了重组，这表明21-羟化酶基因位于HLA系统之外，并与HLA-DR位点紧密连锁。
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