【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。更多还原

【Abstract】 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 +,1man 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.更多还原