自然流产夫妇人群中染色体平衡易位与倒位的临床分析

Clinical analysis of balanced chromosome translocation and inversions in spontaneous abortion couples

目的通过染色体核型分析,探讨自然流产夫妇中染色体平衡易位及倒位的发生及分布情况。方法 1489对自然流产夫妇行染色体核型分析,计算染色体平衡易位及臂间倒位的发生率及95%置信区间。结果染色体发生平衡易位或者臂间倒位者共111例,发生率3.96%(111/2798),男性与女性在染色体臂间倒位、平衡易位中都没有显著差异(P>0.05)。染色体臂间倒位发生56例,发生率为2.0%(56/2798)。9号染色体臂间倒位占臂间倒位的80.4%(45/56)。inv(9)在自然流产患者及其配偶人群中的发生率为1.6%(45/2798),95%置信区间为(1.14%,2.05%),显著高于中国人群发生率。染色体平衡易位发生55例,发生率为1.96%(55/2798),占异常染色体中的49.5%(55/111),染色体平衡易位发生率的95%置信区间为(1.46%,2.45%),显著高于中国人群发生率。其中染色体相互易位发生37例,发生率为1.24%(37/2798);罗伯逊易位发生18例,发生率为0.60%,95%置信区间为(0.32%,0.87%),显著高于中国人群发生率。结论染色体平衡易位与臂间倒位在自然流产患者及其配偶人群中发生率均显著高于一般人群,通过染色体核型筛查,可以为自然流产的诊治提供依据。

Objective：Through chromosome karyotype analysis,study the occurrence rate and distribution of balanced chromosome translocation and inversions in spontaneous abortion couples. Methods：By analysis of chromosome from 1489 couples（2798 people）of natural abortion,calculate occurrence rate and 95% confidence intervals of chromosome translocation and inversions. Results：Total 111 samples show balanced translocation or pericentric inversion,occurrence rate is 3.96%（111/2798）. No significant difference showed between male and female in balanced translocation and pericentric inversion.（P〉0.05）. Pericentric inversion counts 56,rate 2% in total（56/2798）. No.9 pericentric inversion rate is 80.4% count in total（45/56）. No.9pericentric inversion occurrence rate is 1.6% in natural abortion couples（45/2798）,95% confidence intervals is 1.14% to 2.05%. It is obviously higher than occurrence rate in China. Balanced translocation counts 55,rate 1.96% in total（55/2798）,rate 49.5% in abnormal chromosome（55/111）,95% confidence intervals of the occurrence rate is 1.46% to 2.45%,It is obviously higher than occurrence rate in China. Chromosomes reciprocal translocation counts 37,rate 1.24% in total（37/2798）;Robertsonian translocation counts 18,rate 0.06% in total（18/2798）,95% confidence intervals is 0.32% to 0.87%,it is obviously higher than occurrence rate in China. Conclusion：Balanced translocation and pericentric inversion of couples with natural abortion is higher than other normal populations. Through chromosome karyotype analysis,we could provide the very basis for natural abortion diagnosis.