七例46，XY女性的SRY基因分析  

MOLECULAR ANALYSIS OF SRY GENE OF SEVEN 46,XY FEMALES

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

机构地区：[1]湖南医科大学分子生物学研究室,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：《中华医学遗传学杂志》1995年第5期258-261,T017,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：应用Ｓｏｕｔｈｅｒｎ杂交、ＰＣＲ扩增、ＤＮＡ序列分析技术对７例４６，ＸＹ女性性反转综合征患者的ＳＲＹ基因进行了研究。结果表明：一例缺失ＳＲＹ基因；一例存在ｃｏｄｏｎ７６ＣＧＣ→ＣＣＣ点突变；另一例存在ｃｏｄｏｎ９４ＣＴＧ→ＣＣＧ的点突变；其余４例与正常成年男性的ＳＲＹ基因相同。为研究４６，ＸＹ女性性反转综合征的发病机理提供了有价值的资料。Using Southern hybridization,PCR amplification and DNA sequencing techniques,we have analysed the SRY gene of seven 46,XY female patients.The result revealed that the SRY gene was deleted in one patient;two novel point mutations occurred at codon 76 CGC→CCC and codon 94 CTG→CCG which resulted in substitutions of a proline for arginine and a proline for leucine in two patients respectively; the other four had normal SRY gene sequences. This has provided valuable information for studying the mechanism of sex reversal.

关 键 词：女性 性反转综合征 SRY基因 聚合酶链式反应 

分 类 号：R711.102[医药卫生—妇产科学] Q344.2[医药卫生—临床医学]