SRY基因检测在性分化异常诊断中的应用  

Applications of SRY gene detection in the diagnosis of sexual abnormal differentiation.

作　　者：刘鸿禧[1] 常晓兰[1] 蔡琮[1] 林珏龙[1] 李玫[1] 陶学训[1] 

机构地区：[1]汕头大学医学院,广东515031

出　　处：《中国优生与遗传杂志》2003年第1期37-39,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　研究SRY基因在性分化和发育中的作用。方法　细胞遗传学核型分析技术以及PCR技术检测外周血SRY基因。结果　在 12例性分化异常患者中 ,有 7例核型为 4 6 ,XY ,SRY(+) ,其中 1例是睾丸女性化综合征。说明性腺病理有睾丸与外周血SRY相符。另有 5例核型为 4 6 ,XX。其中 1例外周血SRY(+) ,显示性反转综合征 ;1例为Turner嵌合型综合征 ,核型为 4 6 ,XX/ 4 5 ,X ,SRY(- ) ,但睾酮升高 (12 .7nmol/L) ,正常成年女性睾酮参考值 (0 .7～ 2 .8nmol/L)。 3例外周血SRY为 (- )。结论　SRY基因检测比外周血核型更能预示睾丸组织的存在 ,性腺的病理取决于性腺部位的染色体核型和SRY基因。除SRY基因外 ,可能存在多个参与性别决定和分化的基因。性分化异常表现出高度遗传异质性。Objective: To study the role of SRY gene in abnormalities of sexual differentiation and development. Methods: The karyotype analysis technique of the cytogenetics combined with polymerase chain reaction (PCR) were used to detect the SRY gene of peripheral blood. Results: Among the 12 cases in abnormal of sexual differentiation and development, 7 cases were the blood karyotyped as 46,XY, and SRY positive, among which one with testicular feminization syndrome. And 5 cases were of karyotype of 46,XX, among which one showed presence of testicular tissue downward abdomen in left lateral, showed sex reversal syndrome. One was the blood karyotype of 46,XX/45,X, blood SRY negative, but the testosterone was eleveted 12.7nmol/L), compare with (0.7～2.8nmol /L) in the normal female adult. Conclusion: SRY gene detection is more sensitive and specific than blood karyotype in the prediction of the presence of testicular tissue. Peripheral blood karyotype does not actually reflect the type of the gonads. The SRY gene is the best candiate gene of the testis determining factor (TDF). There would be some testicular factor other than SRY gene. The sexual differential abnormalities express highly the genetic heterogeneity.

关 键 词：性分化异常 核型分析 聚合酶链反应 SRY基因 性反转 睾丸女性化 

分 类 号：R596.1[医药卫生—内科学]