性分化异常患者的细胞和分子遗传学检测  

Analysis of Cytogenetics and Molecular Genetics in Sexual Abnormality Patients

作　　者：陈辉[1] 宋国英[1] 谢清瑞 刘永波[1] 李晓文[1] 

机构地区：[1]郑州大学医学院细胞生物学与医学遗传学教研室,河南郑州450052 [2]漯河市第一人民医院,河南漯河462000

出　　处：《河南职工医学院学报》2004年第2期101-102,共2页Journal of Henan Medical College For Staff and Workers

摘　　要：目的　通过对 16例性分化异常患者进行细胞遗传学和Y染色体上的性别决定区 (SRY)基因检测 ,为临床检测提供参考 ,并对性分化异常机制进行探讨。方法　对染色体G显带与聚合酶链反应对性分化异常患者进行染色体核型分析与SRY基因的检测。结果　 7例 4 6 ,XY患者SRY均阳性 ;2例 4 6 ,XX/ 4 6 ,XY嵌合体患者 ,1例阳性 ,1例阴性 ;7例 4 6 ,XX(或 4 6 ,XX/ 4 5 ,X0、4 5 ,X0 )患者 ,5例阳性 ,2例阴性。Objective To analyze 16 cases' sexual abnormality by cytogenetics and molecular genetics to provide information for clinical diagnosis and study the mechanism of sexual abnormality. Methods Karyotype analysis and sex-determining region gene of the Y (SRY) gene in 16 patients were analyzed by the technique of chromosomal G band and polymerase chain reaction (PCR).Results SRY gene of seven patients whose karyotypes were 46,XY were all positive,two patieuts 46,XX/46,in XY patients,one was positive,the an other was negative.In seven patients 46,XX(or 46,XX/45,X0 、45,X0),five were positive,two were negative.Conclusion The mutations of sex chromosome and SRY gene is related with sexual abnormality.

关 键 词：性分化异常 细胞遗传学 分子遗传学 基因检测 

分 类 号：R588[医药卫生—内分泌] R394[医药卫生—内科学]