性分化异常患者SRY基因的临床检测  

Clinical detection of SRY gene in the patient with sexual differentiation defect.

作　　者：张晓云[1] 李永全[1] 周汝滨[1] 廖霞[1] 陈小萍[1] 

机构地区：[1]广东医学院医学遗传学研究室,湛江524023

出　　处：《中国优生与遗传杂志》2002年第6期31-33,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　对社会性别为男性的性分化异常患者进行细胞遗传学检查和SRY基因分析以探讨其性别异常的原因。方法　外周血淋巴细胞培养法检查染色体核型 ,聚合酶链反应法 (PCR)检测SRY基因。结果　 5例患者染色体核型均为46 ,XX ,3例患者SRY基因存在 ,2例患者SRY基因缺失。结论　染色体检查、SRY基因检测在性分化异常患者的诊断和治疗中有重要意义 。Objective:In order to investigate the reasons of sex divergence,5 XX male patients with sexual differentiation defect were analyzed by cytogenetic way and molecular genetics way.Methods:Chromosome karyotype of cicular lymphocytes was analyzed and SRY gene was detected by polymerase chain reaction.Result:The chromosome karyotype of 5 patients was 46,XX,SRY gene was detected in 5 cases:3 cases were positive,2 cases were negative.Conclusion:Analysis of chromosome karyotype and detection of SRY gene can be helpful to etiological diagnosis and clinical treatment for the patients with sexual differentiation defect and also helpful to explain genetic essence and mechanism of sexual differentiation.

关 键 词：性分化异常 SRY基因 聚合酶链反应 细胞遗传学 外周血淋巴细胞培养法 

分 类 号：R394[医药卫生—医学遗传学]