常见染色体多态性与生殖异常关系研究  

Relationship between Chromosomal Polymorphisms and Reproductive Abnormalities

作　　者：刘芳 于辛酉[2] 包俊华 金锐 唐大伟 白刚 LIU Fang;YU Xinyou;BAO Junhua;JIN Rui;TANG Dawei;BAI Gang(Yinchuan Maternal and Child Health Hospital Reproductive Center,Yinchuan 750001,China;General Hospital of Ningxia Medical University,Yinchuan 750004,China)

机构地区：[1]银川市妇幼保健院生殖中心,银川750001 [2]宁夏医科大学总医院,银川750004

出　　处：《宁夏医科大学学报》2020年第8期859-863,共5页Journal of Ningxia Medical University

基　　金：宁夏自然科学基金(2018AAC03230)。

摘　　要：染色体多态性主要包括9号染色体臂间倒位,1号、9号、16号染色体次缢痕增加或缺失,D组和G组染色体随体区变异,大Y、小Y和Y染色体臂间倒位等。染色体多态性与反复性自然流产、胚胎停育、胎儿畸形、不孕不育等存在一定相关性。本文对近年来染色体多态与临床不孕不育等生殖异常关系的研究成果进行系统总结,分析染色体多态性的临床效应,为染色体多态性携带者夫妇,特别是有不良妊娠史的夫妇进行产前诊断提供指导。Chromosomal polymorphisms mainly include these following types: pericentric inversion of chromosome 9,the addition or deletion of the secondary constriction of chromosome 1,9 and 16,satellite variation of the D group and G group which mainly includes the addition of the satellite region and bisatellite,the addition or deletion of the heterochromatin region of Y chromosome and the inversion of the Y chromosome arm. Recent studies have shown that chromosomal polymorphisms are associated with recurrent pregnancy loss,embryonic cessation,fetal malformation,infertility and so on. In this paper we systematically summarize the studies of the relationships between chromosomal polymorphisms and clinical reproductive abnormalities such as infertility in recent years to explore the clinical effects of chromosomal polymorphisms. Our work aims to provide theoretical guidance for prenatal diagnosis of couples of chromosomal polymorphisms,especially couples with a history of adverse pregnancy. We also hope this work is helpful to promote prenatal and postnatal care and improve the quality of the population.

关 键 词：染色体多态性 生殖异常 相关性 

分 类 号：R714.5[医药卫生—妇产科学]