性分化与发育异常与SRY基因的研究  

Detection of SRY Gene and the relationship with karyotype in 36 patient of sex abnormality

作　　者：王秀娣[1] 宫剑[1] 杨少燕[1] 陈小芳[1] 曹淑彦[1] 李孟荣[1] 蔡晓红[1] 曹云霞 

机构地区：[1]温州医学院附属二院附属儿童医院科研中心,浙江325000 [2]不详

出　　处：《中国优生与遗传杂志》2008年第11期17-18,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨性分化与发育异常的细胞与分子机理,并为临床提供明确的诊断。方法对性分化与发育异常36例患者外周血淋巴细胞进行常规染色体培养的同时行SRY基因检测。结果36例患者中Turners 12例,SRY+10例,SRY-2例;单纯女性性腺发育不良7例,SRY+5例,SRY-2例;47,XXY综合征3例,SRY+2例,SRY-1例;单纯睾丸发育不全(46,XY)7例SRY+5例,SRY-2例;两性畸形7例,其中男性尿道下裂4例,SRY+;46,XX男性化1例SRY-;46,XY女性化2例SRY+。结论SRY基因是性分化与发育的重要基因,SRY基因检测对性分化与发育异常患者可以提供临床鉴别诊断。Objective： To investigate the relationship between Karyotype and SRY gene in patients of sex abnormality with differentiation and development. Methods： SRY gene detection with polymerase chain reaction （PCR） and karyotype were detected in 36 patients of sex abnormality. Results： 10 cases SRY ＋ , 2 cases SRY - in 12 Turner, s syndrome; 5 cases SRY ＋ , 2 cases SRY - in pure female sex gland abnormality. 3 cases 47, XXY, 2 cases SRY ＋, 1 cases SRY - ; in 7 cases pure testis abnormality, 5 cases SRY ＋ , 2 cases SRY -. 2 females 46, XY, SRY ＋ , 1 man 46, XX, SRY -. Conclusion ： SRY gene play an important role in sex differentiation and development. Detecting SRY gene will provide differential diagnosis for patients of sex abnomole.

关 键 词：性分化与发育异常 染色体核型 SRY基因 

分 类 号：R394[医药卫生—医学遗传学]