染色体多态性与生殖异常

Chromosome polymorphism and reproductive abnormalities

目的研究染色体多态性与生殖异常的关系。方法对2005年1月以来在本院妇产科就诊的4 184例遗传咨询者行外周血染色体核型分析,共检出染色体多态性核型231例,占5.52%。结果根据多态性变异主要归为下列4种类型:D/G组随体增加共57例,占多态性的24.68%;次缢痕增加(包括1号、9号、16号染色体)共59例,占多态性的25.54%;9号染色体臂间倒位共40例,占多态性的17.32%;Y染色体变异(包括Y长臂变异和倒位)共75例,占多态性的32.47%。染色体多态性组的习惯性流产发生率和不育症发生率明显高于对照组。Y染色体多态性组的精子密度和精子活率明显低于正常组。结论染色体多态性与习惯性流产、不育等生殖异常之间存在相关性。Y染色体多态性影响男性精液质量。

Objective To study the relationship between chromosome polymorphism and reproductive abnormalities. Methods Pe-ripheral blood karyotype of 4 184 genetic counselors in the department of obstetrics and gynecology of our hospital since January 2005 were analyzed, chromosome karyotype of polymorphism were detected 231 cases, accounting for 5.52%. Results The polymolphism variation can be mainly classified into the following four types： D/G group with the increase of body, a total of 57 cases, accounting for 24.68% of the polymorphism; Time constriction increase （ including chromosome 1,9, 16）, a total of 59 cases, accounting for 25.54% of the polyrnorphism; Inversion between chromosome 9, a total of 40 cases, accounting for 17.32% of the polymorphism; Y chromosome variation （including Y long ann variation and inversion） , a total of 75 cases, ac- counting for 32.47% of the pelymorphism. The incidences of habitual abortion to chromosome polymorphism and the incidence of infertility were significantly higher than the control group. Y chromosome polymorphism of sperm density and sperm live rate was significantly lower than the normal group. Conclusion Chromosome pely morphism and reproductive abnormalities of ha- bitual abortion, sterility have correlation. Y chromosome polymorphism affects male semen quality.