|
|||||
|
|
| 一个46,XY"女性"不育症家系的遗传学分析 | |
| 引用本文： | 王旭,王晓然,刘木根,王擎,刘静宇.一个46,XY"女性"不育症家系的遗传学分析[J].遗传学报,2006,33(1):19-25. |
| 作者姓名： | 王旭 王晓然 刘木根 王擎 刘静宇 |
| 作者单位： | 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 3. 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;克里夫兰医学研究中心,分子心脏病学系,克里夫兰,44195 |
| 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。 |
| 关 键 词： | 遗传学分析 46 XY"女人" 不育 |
| 收稿时间： | 2005-07-08 |
| 修稿时间： | 2005-07-082005-08-23 |
Genetic Analysis of a Family with 46, XY "Female" Associated with Infertility |
|
| WANG Xu,WANG Xiao-Ran,LIU Mu-Gen,WANG Qing,LIU Jing-Yu.Genetic Analysis of a Family with 46, XY "Female" Associated with Infertility[J].Journal of Genetics and Genomics,2006,33(1):19-25. | |
| Authors: | WANG Xu WANG Xiao-Ran LIU Mu-Gen WANG Qing LIU Jing-Yu |
| Institution: | 1. Human Genome Research Center and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074 China; 2. The Laboratory of Human Genetics, Institute of Planned Parenthood of Nanyang, Nanyang 473000, China; 3. Department of Molecular Cardiology, the Cleveland Clinic Foundation, Cleveland Ohio 44195, USA |
| Abstract: | 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. |
| Keywords: | genetic analysis 46 XY female infertility |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |