46,XX男性和46,XX/45,X病例分析  

Analysis of the cases of the 46,XX male and 46,XX/45,X

作　　者：李玟[1] 刘鸿禧[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》2005年第10期52-53,84,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨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以及PCR技术检测外周血SYR基因。结果病例1的核型为46,XX,SRY(+)。诊断为46,XX男性性反转综合征。病例2的核型为46,XX/45,X,SRY(-)。诊断为Turner嵌合型。结论SRY基因检测比Y染色体更能预示睾丸组织的存在,是诊断性别发育异常患者的重要手段。性腺的病理取决于性腺组织的染色体核型和SRY基因。除SRY基因外,还存在多个参与性别决定和分化的基因,性分化异常表现现高度遗传异常性。Objective： To study the role of SRY gene in abnormalities of sexual differentiation and development. Mothods： The karyotype analysis technique of the cytogenetics combined with polymerase chain reaction （PCR） were used to detect the SRY gene of peripheral blood. Results：Karyotype of case 1 is 46,XX, SRY（ ＋ ）,was diagnosed 46, XX male sex- reversal syndrome. Karyotype of case 2 is 46, XX/45, 0, SRY（ - ）, was diagnosed Turner mosaic syndrome. Conclusion： SRY gene detection is more sensitive and specific than the Y - ehromsome in the prediction of the presence of testieular tissue, It is the important tool diagnosing sex development abnormal. Besides SRY gene, there are more gene determining sex and differentiation. 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 嵌合型 

分 类 号：R596[医药卫生—内科学]