2例SRY阳性的46,XX男性综合征细胞和分子遗传学分析

Cytogenetics and molecular genetics research of two male patients whose karyotype were 46,XX and SRY gene were positive

目的通过对2例社会性别为男性的不育患者的细胞及分子遗传学分析,探讨性分化异常的机制,并分析染色体核型和SRY基因检测在性发育异常中的意义。方法外周血淋巴细胞染色体核型分析;提取外周血基因组DNA,进行SRY基因、Y染色体AZF区域微缺失检测。结果 2例患者染色体核型均为46,XX,Y染色体AZF区域微缺失检测提示AZFa、b、c区全部缺失,但SRY基因均存在。结论 SRY基因是参与性别决定和分化的关键基因,对其进行检测有利于明确性反转综合征的临床诊断,通过染色体核型分析结合分子遗传学检测,可为性发育异常患者的临床确诊和治疗提供依据。

Objective：To analyze two patients of male infertility by cytogenetics and molecular genetics to provide information for clinical diagnosis and study the mechanism of sexual abnormality.Methods：Chromosome were performed by the technique of G banding karyotype.Sex-determining region of the Y（SRY） gene and Y chromosome zaoopspermia factor region（AZF） were screened by means of polymerase chain reaction.Results：SRY gene of two patients whose karyotype were 46,XX were all positive,but AZFa,AZFb,AZFc gene in the Y chromosome were all negative.Conclusion：SRY gene play an important role in sex determination and differentiation.Detecting SRY gene will contribute to diagnose of sex reversal syndrome.It will provide scientific basis for dignosis and treatment of patients with sexual abnormality by cytogenetics and molecular genetics.