先天性肾上腺皮质增生症基因定位的细胞遗传学证据
Cytogenetic evidence for the localisation of the gene for congenital adrenal hyperplasia.
作者信息
Webb T, Mackintosh P, Wells L J
出版信息
Clin Genet. 1980 May;17(5):349-54. doi: 10.1111/j.1399-0004.1980.tb00161.x.
Abstract
In the course of a study of the close linkage between the gene locus for the autosomal recessive disease, Congenital Adrenal Hyperplasia (CAH), and the major histocompatibility complex (MHC), a cytogenetic survey was undertaken. In one family, where a crossover might have occurred between some loci in the MHC complex and the locus for the 21-hydroxylase gene, there was also a crossover between the MHC locus and the centromere of chromosome 6.
摘要
在一项关于常染色体隐性疾病先天性肾上腺皮质增生症（CAH）的基因位点与主要组织相容性复合体（MHC）之间紧密连锁关系的研究过程中，进行了一次细胞遗传学调查。在一个家族中，MHC复合体的某些位点与21-羟化酶基因位点之间可能发生了一次交换，同时在MHC位点与6号染色体的着丝粒之间也发生了一次交换。
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