性分化异常患者的SRY基因分析  

GENETIC ANALYSIS OF SRY IN THE PATIENTS OF SEX DIFFERENTIATION ABNORMALITY

作　　者：徐宏斌[1] 徐毓其[1] 

机构地区：[1]皖南医学院生化教研室

出　　处：《潍坊医学院学报》1997年第4期269-271,共3页Acta Academiae Medicinae Weifang

摘　　要：目的ＳＲＹ基因是Ｙ染色体上睾丸决定因子的最佳候选基因，开展对人类ＳＲＹ基因研究的目的在于探明ＳＲＹ基因与性别决定、性分化异常之间的关系。方法在细胞遗传学分析的基础上，采用聚合酶链反应对性分化异常患者的ＳＲＹ基因进行分析。结果在３例４６，ＸＸ男性和１８例４６，ＸＹ女性中，仅１例４６，ＸＹ女性未出现４８２ｂｐ的特异扩增带。结论根据研究结果，有力地支持了在性分化异常患者中存在着ＳＲＹ基因突变、相关基因突变和ＸＰ－ＹＰ之间ＤＮＡ片段交换假说。Objective SRY gene is the best candidate for testisdetermining factor(TDF) on Ychromosome. The object of research on human SRY gene is to find out the relationship between SRY gene and sex determination,sex differentiation abnormality.Method On the base of cytogenetic analysis,PCR was applied to analyse the SRYgene of patients with sex differentiation abnormality.Result Of the three 46,XX male patients and eighteen 46,XY female patients, only one 46,XY female patient didn't show the specific band of 482bp.Conclusion The research result strongly supported the hypothesis that in patients with sex differentiation abnormality there are mutations of SRY genes,related genes and exchanges of DNA pieces between XPYP.

关 键 词：性染色体 SRY基因 聚合酶链反应 性分化异常 

分 类 号：R596.1[医药卫生—内科学]