性发育异常患儿染色体分析及SRY基因的检测

摘要

目的:探讨性发育异常与染色体和SRY基因的关系及其意义.方法:采用外周血淋巴细胞G显带和PCR方法,对108例性发育异常患者行染色体型分析和SRY基因检测.结果:108例性发育异常患儿中5例患儿有性染色体畸变,畸变率为4.63%,13例患儿染色体异态;2例染色体核刑为46,XY的男性患为SRY基因缺失,2例社会性别为女的46,XY患儿SRY基因阳性,4例社会性别为男的46,XX患儿SRY基因阴性.结论:染色体畸变是引起性发育异常的重要原因之一;SRY基因不是性别决定的唯一基因,SRY基因的缺失或突变可能导致性发育的一系列异常改变;对性发育异常患儿实施染色体和SRY基因的检测具有十分重要的临床意义.%Objective:To discuss the relationship between sexual abnormality and chromosome and SRY gene.Methods:108 cases of sexual abnormal children were detected by chromosome G-banding and PCR method.Results:There were 5 sexual chromosome aberrations and 13 cases with chromosome heteromorphsim in 108 cases of sexual abnormality. 2 boys of 46,XY,the SRY gene was absent,2 girls of 46,XY ,the SRY gene was postive, 4 boys of 46,XX the SRY gene was negative.Conclusions:It is one of the critical reasons for the chromosome aberrations resulting in the sexual developmental abnormality;The SRY gene is not the only gene in determination of sex, the absence or mutation of SRY gene may be related with various sexual abnormality. It is very important to detect chromosomes and SRY gene for diagnosis of sexual abnormal children.