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
叶长烂 1张中芬 1郑霖 1江悦华 1夏冰 1王捷1
作者信息
- 1. 广州军区广州总医院医学实验科,广东 广州 510010
- 折叠
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.
Abstract
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 Chromosome. 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Key words
Pseudohermaphroditism/genetics引用本文复制引用
出版年
2012
NETL
NSTL
维普
万方数据