性发育异常患者的染色体核型、SRY基因及其序列分析

目的观察性发育异常患者的染色体核型、性别决定基因（SRY基因）表达及其序列变化。方法采用G显带方法分析29例性发育异常患者的性染色体核型,用PCR技术扩增其SRY基因,并对其中6例两性畸形患者扩增的SRY基因进行测序。结果 6例两性畸形患者中2例染色体核型为45,X/46,XY,3例为46,XY,其SRY基因阳性,直接测序未发现SRY基因突变;1例核型为46,XX,SRY基因阴性。16例Klinefelter综合征患者染色体核型为47,XXY,1例Klinefelter综合征患者染色体核型为46,XY/47,XXY,其SRY基因均阳性;6例Kallman综合征患者染色体核型为46,XY,其SRY基因均阳性。结论大部分性发育异常患者的染色体核型异常;SRY基因阳性两性畸形患者的SRY基因序列未见异常。

Analysis of karyotype and sequence of SRY gene in patients with Dysplasia

Objective To investigate the Karyotype,expression and sequence of SRY gene in patients with Dysplasia.Methods Karyotype of sex chromosome of 29 cases with Dysplasia were analyzed by G-banding analysis,SRY gene were amplified by PCR and SRY gene after amplification of 6 in 29 cases whom suffered Hermaphroditism were sequenced directly.Results Karyotype of 2 in 6 cases with Hermaphroditism were 45,X/46,XY,karyotype of 3 cases were 46,XY,no mutation was found with their positive SRY gene.1 case in 29 patients was 46,XX,her SRY gene was negative.Karyotype of 16 cases with Klinefelter syndrome were 47,XXY and which of 1 case was 46,XY/47,XXY,their SRY gene were positive.Karyotype of 6 cases with Kallmann syndrome were 46,XY,their SRY gene were positive.Conclusions Karyotype of most of patients with Dysplasia are abnormal.No mutation is found in patients with Hermaphroditism whose SRY gene is positive.