【摘要】 目的通过对66例46,XX男性性反转综合征患者进行细胞及分子遗传学分析,探讨性分化异常的机制及临床特点。方法外周血淋巴细胞染色体核型分析,PCR扩增Y染色体长臂上AZF基因位点。结果 66例患者染色体核型分析均为46,XX,PCR扩增显示SRY基因阳性、AZFa、b、c、d区全部存在2例,SRY基因阳性、AZFa、b、c、d区全部缺失56例,SRY基因阴性、AZFa、b、c、d区全部缺8例。结论 46,XX男性性反转综合征患者临床男性表型,在遗传学上表现出明显的异质性,SRY基因缺失的患者也能发育成临床男性表型,提示在男性性别的决定和分化过程中,可能存在多种关键性影响因素。更多还原

【Abstract】 Objective To do cytogenetic and molecular genetic analysis in 66 patients with 46, XX male sex reversal syndrome and explore the mechanism and clinical characteristics of abnormal sexual differentiation. Methods Chromosome karyotype analysis of peripheral blood lymphocytes was performed, and the AZF locus on the long arm of Y chromosome was amplified by PCR. Results The karyotypes of 66 patients were all 46, XX. PCR amplification showed that there were 2 patients with the SRY gene positive, and presence of AZFa, b, c and d areas. There were 56 patients with the SRY gene positive, and deletion of AZFa, b, c and d areas. And there were 8 patients with the SRY gene negative, and deletion of AZFa, b,c and d areas. Conclusion The clinical male phenotype of 46, XX male sex reversal syndrome shows obvious genetic heterogeneity, and the patients with SRY gene deletion can develop into clinical male phenotype, it suggests that there may be a variety of key factors in the process of male sex determination and differentiation.更多还原