染色体多态性与生殖异常的关系探讨.PDF

中国优生与遗传杂志 2018 年第 26 卷第 1 期 ·45· 染色体多态性与生殖异常的关系探讨 * 尚秋杰 ，王亚男 （河南省洛阳市妇女儿童医疗保健中心，河南　洛阳　471000 ） 摘　要：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。 关键词：染色体多态性；生殖异常；核型分析 中图分类号：R596.1　　　文献标识码：B　　　文章编号：1006-9534（2018）01-045-03 DOI:10.13404/j.cnki.cjbhh.2018.01.020 * The relationship between Chromosome polymorphism and reproductive abnormalities. SHANG Qiu-jie ，WANG Ya-nan. （Women and Children Health Center of Luoyang，Henan 471000）. Abstract：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；35cases 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.Beside