性反转综合征患者的细胞和分子遗传学检测

Analysis on cytogenetics and molecular genetics of patients with sex-reversal syndrome

目的探讨SRY基因在性分化中的作用和性反转综合征的发病机制。方法采用G显带、多重PCR技术对2例46,XY女性和1例46,XX男性性反转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 2例46,XY女性患者SRY基因存在,Y染色体AZF基因检测未发现缺失;46,XX男性患者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,对性反转综合征患者进行染色体核型分析和SRY基因检测有利于明确诊断。

Objective ： To explore the role of SRY gene and the mechanism of sex reversal syndrome. Methods ： G - banding and multiple polymerase chain reaction were used to analyze cytogenetic karyotype and to perform SRY gene amplification and AZF amplifi- cation of the Y Chromosome. Results： 2 patiants of 46,XY female were found with positive SRY gene and AZF factor of chromosome Y; 46, XX patient was found with positive SRY gene, but AZFa, AZFb, AZFc and AZFd gene in the Y chromosome were all nega- tive. 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.