9号染色体臂间倒位与不孕不育相关性的探讨

Analysis the correlation between pericentric inversion of chromosome 9 and human infertility

目的分析9号染色体臂间倒位与不良孕产史、不孕及不育症的关系,探讨其对生育的影响,为临床优生与遗传咨询提供依据。方法对2006年至2016年来本医院进行就诊的8836例患者进行外周血染色体核型分析。结果 8836例被检者中9号染色体臂间倒位179例,检出率为1.87%,其中不孕症及不育症患者的检出率分别为2.27%和2.11%,均显著高于正常人群。179例患者中存在4种不同的臂间倒位类型,其中inv(9)(p12q13)的比例最高,占45%,其次为inv(9)(p11q13)占21%,另外两种异位类型inv(9)(p11q12)和inv(9)(p13q13)分别占18%及16%。结论 9号染色体臂间倒位与不孕不育存在一定的关联性。

Objective：To investigate the correlation between pericentric inversion of chromosome 9 and human infertility. Methods：Cytogenetic analysis was performed in 8836 cases by periphery blood lymphocyte G-banding staining method. Results：179 cases were positive of pericentric inversion of chromosome 9,which account for 1.87% in the total cases. Among the 179 cases,the incidence of female and male infertility was 2.27% and 2.11%,respectively. The ratio of patients reported in present study was significantly higher than normal population. Four types of pericentric inversion of chromosome 9 were observed in the total 179 cases. Inv（9）（p12q13）and inv（9）（p11q13）were the most common types which accounted for 45% and 21%,respectively. In addition,inv（9）（p11q12）and inv（9）（p1313）were accounted for 18% and 16%,respectively. Conclusion：Pericentric inversion of chromosome 9 was associated with female/male infertility and abnormal fertility.