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人类X染色体上的雄激素受体基因座:区域定位至Xq11 - 12及一种DNA多态性的描述。

Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism.

作者信息

Brown C J, Goss S J, Lubahn D B, Joseph D R, Wilson E M, French F S, Willard H F

机构信息

Department of Medical Genetics, University of Toronto, Ontario, Canada.

出版信息

Am J Hum Genet. 1989 Feb;44(2):264-9.

PMID:2563196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715398/
Abstract

The gene for the androgen receptor, mutations at which cause the X-linked androgen insensitivity syndrome, has been localized to the q11----q12 region of the human X chromosome by analysis, using a cloned cDNA for the androgen receptor, of somatic cell hybrid panels segregating portions of the X chromosome. A moderate-frequency HindIII RFLP has been found which should be useful in genetic linkage analysis of the various inherited forms of androgen insensitivity.

摘要

雄激素受体基因的突变会导致X连锁雄激素不敏感综合征,通过使用雄激素受体的克隆cDNA对分离X染色体部分片段的体细胞杂种板进行分析,该基因已被定位到人类X染色体的q11----q12区域。已发现一种中等频率的HindIII限制性片段长度多态性(RFLP),它在雄激素不敏感的各种遗传形式的基因连锁分析中应会有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bfc/1715398/d06aec4877d9/ajhg00112-0091-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bfc/1715398/08bde0bd884c/ajhg00112-0093-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bfc/1715398/d06aec4877d9/ajhg00112-0091-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bfc/1715398/08bde0bd884c/ajhg00112-0093-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bfc/1715398/d06aec4877d9/ajhg00112-0091-a.jpg

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