中国人新SRY基因突变类型－Codon76CGC→CCC的发现  

A NOVDL TYPE OF MUTATION AT CODON 76(CGC→CCC)IDENTIFIED IN SRY GENE OF A CHINESE WITH SEX REVERSAL

作　　者：刘智[1] 朱定尔[1] 熊正刚 肖广惠[1] 陈洪波[1] 徐学明[1] 邱洛琳[1] 赖伏英[1] 

机构地区：[1]附属湘雅医院中心实验室,广州市妇婴医院遗传研究室

出　　处：《湖南医科大学学报》1995年第3期197-200,共4页Bulletin of Hunan Medical University

基　　金：国家自然科学基金

摘　　要：应用聚合酶链反应（ＰＣＲ）体外快速扩增６例４６，ＸＹ女性性反转综合征患者的ＳＲＹ基因片段，并用一种简单准确的ＰＣＲ产物直接测序法进行序列分析，发现一种Ｃｏｄｏｎ７６ＣＧＣ→ＣＣＣ的新突变类型，对该直接测序法的关键和应用进行了讨论。The SRY gene fragments of 6 cases of 46,XY female sex reversal patients were ampli-fied by polymerase chain reaction,and sequenced using a simple and precise sequencingmethod.The results revealed a novel type of mutation of codon 76 CGC→CCC,which result-ed in the substitution of a proline for arginine in one of six patients. The key steps and appli-cations of the sequencing method were discussed.

关 键 词：性反转综合征 SRY 基因 突变 DNA 多聚酶链反应 

分 类 号：Q75[生物学—分子生物学] R711.1[医药卫生—妇产科学]