染色体多态性与生殖异常的关系探讨

The relationship between Chromosome polymorphism and reproductive abnormalities

目的探讨染色体多态性与生殖异常的关系。方法对4461例遗传咨询者进行常规技术制备外周血淋巴细胞染色体,抽取外周血,培养淋巴细胞,G显带,进行染色体核型分析。结果染色体多态性检出181例,异常检出率4.06%(181/4461)。常染色体多态性主要表现为:Y染色体长臂变异82例,占染色体多态的45.30%(82/181);D和G组随体变异35例,占染色体多态的19.34%(35/181);染色体臂间倒位27例,占染色体多态性的14.92%(27/181);次缢痕区加长有24例,占染色体多态的13.26%(24/181)。另外,短臂增长为11例,染色体着丝粒异染色质增多2例。结论染色体多态性中,Y染色体多态比例最高,随体变异多态和染色体倒位多态次之,染色体多态性与不孕不育、流产、不良妊娠等生殖异常密切相关。

Objective：To explore the relationship between chromosome polymorphism and reproductive abnormalities.Methods：A total of 4461 genetic counselors were used to prepare peripheral blood lymphocyte chromosomes,The peripheral blood was collected,lymphocytes were cultured,and the G band was analyzed for chromosome karyotype analysis.Results：There were 181 cases of chromosome polymorphism,accounting for 4.06% in all subjects.The autosomal polymorphisms were as follows：82 cases of Y chromosome long arm variations,accounting for 45.30% of chromosomal polymorphism;35 cases of D/G set with body variant,accounting for 19.34% of chromosomal polymorphism;27 cases of inversion of chromosomes,accounting for 14.92% of chromosomal polymorphism;24 cases of secondary constriction incresead,accounting for 13.26% of chromosomal polymorphism.Besides,11 cases of chromosome short arm extended and 2 cases of chromosome centromeric heterchromatin increased.Conclusion：The highest percentage of Y chromosome polymorphism,body polymorphism and chromosome inversion polymorphism take the second palace,chromosomal polymorphisms are closely related to infertility,abortion,and poor pregnancy.