邯郸地区人9号染色体臂间倒位与生殖异常的研究分析

The Relation Between Pericentric Inversion of Chromosome 9 and Reproductive Abnormality in Handan District

目的探讨人9号染色体臂间倒位与生殖异常的关系。方法选取2680例遗传咨询者进行染色体分析,常规培养外周血淋巴细胞,制备染色体标本,G显带(必要时加做C显带)。我们选取确诊的22例9号染色体臂间倒位患者作为观察组,随机选取染色体结果正常的22例遗传咨询者作为对照组,来比较两组间不同生殖异常的差异性。结果2680例遗传咨询者中共检出22例9号染色体臂间倒位,检出率0.82%,其中男性患者检出率(77.27%)比女性患者检出率(22.73%)显著增高。观察组发生胚胎停育、生育畸形儿、少(弱)精概率显著高于对照组(P<0.05),两组发生自然流产、不孕不育的概率比较差异无统计学意义(P>0.05),对照组无生殖异常发生概率显著高于观察组(P<0.05)。结论人9号染色体臂间倒位与生殖异常之间存在相关的联系,对此类遗传咨询者进行染色体检查很有必要性。

Objective To explore the relation between pericentric inversion of chromosome 9 and reproductive abnormality.Methods Using G-banding technology or C-banding technology when necessary after peripheral blood lymphocyte chromosome specimens were applied.Karyotype analysis was conducted for 2680 genetic counselors.We selected 22 patients with confirmed interbrachial inversion of chromosome 9 as the observation group,and randomly selected 22 genetic counselors with normal chromosome results as the control group,so as to evaluate the differences of different reproductive abnormalities between the two groups.Results In 2680 genetic counselors,22 cases of pericentric inversion of chromosome 9 were detected,which was accounting for 0.82%.The male accounted a percentage of 77.27%,which was significantly higher than female with the percentage of 22.73%.The incidences of embryo damage,birth of deformed children,little(weak)sperm in observation group were significantly higher than that in the control group(P<0.05).There was no significant difference in the incidence of spontaneous abortion,infertility between the two groups(P>0.05).The incidence of no reproductive abnormalities in the control group was significantly higher than that in the observation group(P<0.05).Conclusion There is a connection between pericentric inversion of chromosome 9 and reproductive abnormality.It is necessary for these patients to receive chromosome examination.