6例性发育异常的SRY基因检测

Analysis of SRY Gene in 6 Cases with Sexual Abnormality

目的 对 6例性发育异常患儿进行SRY基因检测 ,为临床诊断提供参考 ,并对性发育异常机理进行初步探讨。方法 应用PCR扩增及PCR产物直接测序进行SRY基因分析。结果 1例 4 5,XO男性患儿 ,SRY基因阳性 ,1例 4 6,XX男性 ,SRY阴性 ;1例 4 6,XY女性 ,SRY基因阳性。对其SRY基因保守区测序结果表明该区无突变。 3例 4 6,XY男性性异常患儿 ,SRY基因均为阳性。结论 4 5,XO男性患儿是由于SRY基因易位所至。女性性反转非SRY基因保守区突变所至。男性性反转可能由于常染色体上与性别决定有关的基因突变所至。

Objective To provide information for clinical diagnosis and study the mechanism of sexual abnormality.Methods 6 cases of sexual abnormality were detected with PCR amplification and DNA sequencing techniques.Results SRY gene was positive in 45,XO male and 46,XY female whose DNA sequence of conserved region had no mutation.SRY gene was negative in 46,XX male.Three 46,XY males with sexual abnormality showed SRY positive.Conclusion the sexual abnormality of 45, XO male was caused by SRY positive.Conclusion the sexual abnormality of 45,XO male was caused by SRY gene translocation.Sexual reverse in female was not caused by gene conseved region mutation but in male it might be caused by sexual related gene mutation on chromasome.