性染色体异常与男性生育及无精子因子关系研究

Study on the relationship between sex chromosomes abnormality and male fertility,azoospermia factor

目的通过对不育男性进行遗传和生育检测,探讨性染色体各种异常与男性生育及无精子因子关系。方法对1 282例不育男性进行生育力检测,采集不同生育力组患者的外周血进行G显带染色体核型分析;采用多重PCR的方法对样本进行序列标签位点(STSs)扩增来检测位点的缺失,统计缺失的发生率及各区域缺失率。结果 1 282例患者中共检测到16例性染色体异常,异常检出率为1. 25%,其中无精子症组15例,发生率为12. 40%。精液正常组1例,其他组未见异常,无精子症组性染色体异常发生率高于其他组。检测到19例无精子因子缺失,涉及到A、B、C 3个区域,总缺失率为1. 48%,无精子症组及严重少精子症组缺失率分别为10. 74%和10. 53%,其他组未见缺失。16例性染色体异常患者中有8例发生缺失,缺失率为50. 00%。结论性染色体异常可导致严重的男性生育力异常,Y染色体长臂1区发生的缺失可导致无精子因子B和C区及以上区域的联合缺失。

Objective To investigate the genetic and fertility tests of infertile men,and to explore the relation between sex chromosomes abnormality and male fertility,azoospermia factor. Methods Semen analysis was performed to determine the male fertility in 1 282 infertility men,the peripheral blood lymphocytes of patients in each group were collected and the peripheral blood lymphocytes G banding karyotypes were analyzed; multiple PCR method was used to amplify the sequence tag sites（STSs）to detect the deletion of the sites,and then the incidence of azoospermia factor deletions and the loss rate of each region were analyzed. Results In 1 282 patients,16 cases were detected to be sex chromosomes abnormality and the rate of abnormal detection was 1. 25%,of which 15 cases were found in azoospermia group and the incidence rate was 12. 40%. There was 1 case in normal semen group and no abnormality in other groups. The incidence of sex chromosomes abnormality was significantly higher than that in other groups. 19 cases were detected to be azoospermia factor deletions,involving A,B,C three regions,the total loss rate was 1. 48%,and the loss rate in the azoospermia group and the severe oligospermia group was 10. 74% and10. 53% respectively,and the other groups were not found to be missing. 8 cases of azoospermia factor deletions were detected in 16 cases of sex chromosome abnormality and the loss rate was 50. 00%. Conclusion Sex chromosomes abnormality can cause severe male fertility disorder,and the deletion of Y chromosome long arm 1 area can lead to joint deletion of azoospermia factor B and C region.