46，XX男性综合征细胞和分子遗传学分析  

Cytogenetics and molecular genetics research on 46, XX male syndrome

作　　者：叶长烂[1] 张中芬[1] 郑霖[1] 江悦华[1] 夏冰[1] 王捷[1] 

机构地区：[1]广州军区广州总医院医学实验科,广东广州510010

出　　处：《中国误诊学杂志》2012年第12期2813-2814,共2页Chinese Journal of Misdiagnostics

摘　　要：目的分析46，XX男性综合征患者的细胞及分子遗传学特征，探讨性分化异常的机制。方法采用G显带、多重PCR技术对1例男性表型的46，XX男性综合征患者进行染色体核型分析、SRY基因检测、Y染色体AZF基因检测。结果患者染色体核型为46，XX，SRY基因存在，Y染色体AZF基因检测示AZFa、AZFb、AZFc、AZFd四个区域全部缺失。结论SRY基因是决定性别和分化的重要基因，通过染色体核型分析和SRY基因检测有利于明确性反转综合征的临床诊断。Objective To analyze the cytogenetics and molecular genetics features of 46,xx male syndrome and to investigate the mechanism of sexual abnormality. Methods G-banding and multiple polymerase chain reaction were used to analyze cytogenetic karyotype and to perform SRY gene amplification and AZF amplification of the Y Chro- mosome. Results The karyotype of this patient was 46, xx, SRY gene was positive, but AZFa, AZFb, AZFc and AZFd gene in the Y chromosome were all negative. Conclusion SRY gene is an important gene which determinates gender and differentiation. Detecting SRY gene and cytogenetic karyotype will contribute to diagnosis of sex reversal syndrome.

关 键 词：假两性畸形/遗传学 

分 类 号：R596[医药卫生—内科学]