一个46,XY“女性”不育症家系的遗传学分析(英文)  

Genetic Analysis of a Family with 46, XY "Female" Associated with Infertility

作　　者：王旭[1] 王晓然 刘木根[1] 王擎[1] 刘静宇[1] 

机构地区：[1]华中科技大学人类基因组研究中心与生命科学与技术学院,武汉430074 [2]南阳计划生育研究所遗传室,南阳473000

出　　处：《Acta Genetica Sinica》2006年第1期19-25,共7页

基　　金：This Work Was Supported by China Postdoctoral Science Foundation (No. 2003034496)and the National "Tenth Five-Year" Science and Technology Program Grant (No.2004BA720A02).

摘　　要：运用常规的染色体G带分析和基因分析技术对-46,XY男性女性化家系进行遗传学分析,发现:先证者及其妹妹 的染色体核型为46,XY,其母亲和父亲的核型正常;对睾丸决定基因(SRY)和雄激素受体基因(AR)进行突变检测,在 SRY基因的整个编码区中没有发现突变,而AR基因的第7个外显子的第840个密码子由CGT(编码精氨酸)变为CAT(编 码组氨酸),这一改变可能是导致核型为46,XY女性化而发生不育。Genetic analysis of a family with 46,XY ＂female＂ associated with infertility was performed using the conventional G-banding and gene mutation screening. The karyotypes of the two female patients were 46,XY and those of their parents were normal. The mutation screenings in sex-determining region Y （SRY） gene and androgen receptor （AR） gene were carried out. No mutation has been found in the whole coding sequence of SRY gene. The mutation of codon 840 CGT （arginine） to CAT （histidine） of AR gene led to the infertility in the patients. The patients showed androgen insensitivity. The clinical phenotype of theirs presented more deleteriously than and different from the one reported before, though they had the same mutation of codon 840 CGT （arginine） to CAT （histidine） of AR gene, which was very different from the mutation of 840 CGT （arginine） to TGT （cysteine） at the same codon.

关 键 词：遗传学分析 46 XY“女人” 不育症 基因 突变检测 

分 类 号：R394[医药卫生—医学遗传学]