外生殖器异常患儿SRY基因分析

目的对6例外生殖器异常的患儿进行SRY基因检测，为临床诊断提供参考，并对性发育异常机制进行初步探讨。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45，XO男性患儿，SRY基因阳性，1例46，XX男性，SRY阴性；1例46，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46，XY男性外生殖器异常患儿，SRY基因均为阳性。结论45，XO男性患儿是由于SRY基因易位所致。女性性反转非SRY基因保守区突变所致。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致。

Analysis of SRY Gene in 6 Cases With Sexual Abnormality

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.ResultsSRY 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,Xxmale.Three46,XY males with sexual abnormality showed SRY positive.Conclusions The sexual abnormality of 45,Xomale was caused by SRY positive.Conclusions The sexual abnormality of 45,XOmale was caused by SRY gene translocation .Sexual reverse infemale was caused by gene conseved region mutation but in male it might be caused by sexual related gene mutation on chromasome.