Analysis of SRY gene in patients with sex reversal syndrome

Objective To investigate the pathogenesis of sex reversal syndrome(SRS). Methods The sex-determining region of Y chromosome(SRY) gene in twenty-two patients with SRS was amplified by polymerase chain reaction(PCR). The PCR products were DNA-sequenced to look for gene mutations using bidirectional sequencing. Results According to the SRY gene analysis, 7 cases(7/22, 31.8%) were found inconsistency between SRY gene and chromesome gender, including 4 cases of female SRY (46,XX,the SRY gene was positive, including 1 case 46, XX, Gp+ and 1 case 45, X, the SRY gene was positive), 3 cases of male SRY(46, XY, the SRY gene was absent).Fifteen cases (15/22, 68.2%) were found consistency between SRY gene and chromesome gender. Further, the bidirectional sequencing showed that no base was changed or deleted in HMG-box of SRY gene among these patients.Conclusions These results suggest that sex-chromesome abnormality and deletion, translocation of SRY gene are main pathogenesis of sex reversal syndrome. Meanwhile, these results also suggest that the SRY is not the only gene in determination of sex, there still are some other genes relating to human sex determination and differentiation.