1383例捐精者染色体核型筛查与意义  

Screening and significance of chromosome karyotype of 1383 donors

作　　者：吴江乾 韩瑞钰 张展羽 宋潇潇 刘杰 王树松 WU Jiang-qian;HANRui-yu;ZhANG Zhan-yu;SONG Xiao-xiao;LIU Jie;WANG Shu-song.(Hebei Research Institute for Family Planning, Key Laboratory of Family Planning and Health Birth, National Health and Family Planning Commission. Shijiazhuang 050016 China)

机构地区：[1]河北省计划生育科学技术研究院国家卫计委计划生育与优生重点实验室,石家庄050016

出　　处：《中国优生与遗传杂志》2018年第4期34-35,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨对捐精者进行染色体检查的必要性。方法选择2012年1月-2017年9月河北省人类精子库初筛精液检查符合卫生部捐精标准的捐精者的1383名捐精者,采用外周血细胞培养,常规制备染色体,G显带和C显带,分析染色体核型。结果 1383例捐精者中,发现染色体异常26例(1.88%)。平衡易位1例,染色体多态性变异25例;多态性变异中9号染色体臂间倒位3例,D、G组染色体短臂变异4例,1、9、15、16、Y染色体异染色质区长度增加3例,大Y?5例,小Y?10例。结论对初筛精液参数符合卫生部标准的捐精者进行染色体核型分析,对提高辅助生殖成功率有重要意义;同时对捐精者中染色体异常者及时进行遗传咨询和生育指导,能够有效降低遗传病的发病率,预防出生缺陷。Objective：To explore the necessity of chromosomal analysis among sperm donors. Methods：A total of 1383 sperm donors whose semen and other indexes were qualified after primary screening in He Bei human sperm bank from January 2012 to September 2017 were selected,lymphocytes culture in peripheral blood,and then routine preparation of chromosomes,G-bands and C-bands,and chromosome karyotype analysis were conducted. Results：Among 1383 sperm donors,26 donors were found with chromosomal abnormality（1.88%）,including 1 donors with balanced translocation,and 25 donors with chromosomal polymorphism. In these 25 chromosomal polymorphism variation donors：inversion between chromosome 9,a total of 4 cases;D/G group with the increase of body,a total of 4 cases;Chromosome 1,9,15,16,Y heterochromatin increase of body,a total of 3 cases;5 cases of large Y chromosome,10 cases of small Y chromosome. Conclusion：It is significant to improve the reproductive success rate of assisted reproduction by conducting chromosomal karyotype analysis among the sperm donors with eligible semen after primary screening test. Meanwhile,it is of practical significance to reduce the incidence of genetic diseases and prevent birth defects,by the genetic counseling and fertility guidance for the chromosome abnormality of the sperm donors.

关 键 词：捐精者 染色体核型分析 精子库 出生缺陷 

分 类 号：R596.1[医药卫生—内科学]