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性染色体异常患者的性别决定基因检测

APPLICATION OF SEX DETERMINING REGION Y GENE IN DIAGNOSIS OF ABNORMAL SEXUAL DIFFERENTIATION
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摘要 Y染色体性别决定基因是睾丸决定因子的重要候选成分,位于Y染色体的短臂上,应用PCR方法可以检测该基因的存在与否,本室应用性别决定Y染色体基因的特异引物检测了7例性染色体异常患者,其中二例47,XXY男性和一例47,XYY男性的性别决定Y染色体基因均阳性,二例46,XX男性中,一例阳性,另一例阴性,一例46,XY女性未检出性别决定Y染色体基因,另有一例Y染色体异全的患者未见Y染色体性别决定基因的丢失. Sex determing region Y gene (SRY) is one of the important candidates for testis determing factor (TDF), and is located in the short arm of Y chromosome. PCR method is used to determine the existence of SRY gene . In our laboratory, special primers of PCR were used for the de-tection of SRY gene. Abnormal sexual chromosomes were determined in 8 cases. In two males with 47, XXY and one male with 47, XYY, SRY were positive. In two males with 46, XX, one was positive, and the other was negative. One female with 46, XY, SRY gene was not detected in one male with translocation of Y chromosome, SRY gene was detected.
机构地区 南京医科大学
出处 《解剖学杂志》 CAS CSCD 北大核心 1998年第4期342-345,共4页 Chinese Journal of Anatomy
关键词 性染色体异常 性别决定因子 性别分化 Y染色体 sexual differentiation sex determining region Y gene(SRY) testis determing factor (TDF)
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