遗传 ›› 2007, Vol. 29 ›› Issue (11): 1362-1362―1366.doi: 10.1360/yc-007-1362

• 研究报告 • 上一篇    下一篇

染色体多态性与临床效应及生殖关系的探究

王小荣; 邓剑霞; 李津津   

  1. 湖南省永州职业技术学院医学院, 永州 425000

  • 收稿日期:2007-04-09 修回日期:2007-08-22 出版日期:2007-11-10 发布日期:2007-11-10
  • 通讯作者: 王小荣

The relationship between clinical outcomes of reproduc-tive abnormalities and chromosome polymorphism

WANG Xiao-Rong; DENG Jian-Xia; LI Jin-Jin   

  1. Medical School of Yongzhou, Professional Technical College, Hunan 425000, China
  • Received:2007-04-09 Revised:2007-08-22 Online:2007-11-10 Published:2007-11-10
  • Contact: WANG Xiao-Rong

摘要:

为了探讨人类染色体结构多态性与生殖异常临床效应的关系,按常规技术方法制备外周血淋巴细胞染色体,经G、C显带,对1 414例遗传咨询者进行核型分析,检出异常核型273例。其中多态性变异180例,占65.93%,非多态性异常核型93例,占34.07%。多态性变异包括D、G组短臂增长10例,次缢痕增长(包括1、9和16号染色体)35例,大Y染色体和小Y染色体 99例,Y染色体臂间倒位6例,9号染色体臂间倒位30例。结果表明,人类染色体多态性与流产、不孕不育、死胎、生育畸形儿等有相关性。

关键词: 生殖异常, 核型分析, 临床效应, 染色体多态性

Abstract:

To study the relationship between chromosome polymorphism and clinical effect of reproductive abnormalities, we prepared chromosomes from peripheral blood lymphocytes and carried out G/C banding and karyotype analyses. Out of 1 414 cases who came in for genetic counseling, 273 had chromosome abnormalities. Among these 273 cases, 180 cases (65.93%) were karyotype variations, with the remaining 93 cases (34.07%) being non-polymorphic chromosomal abnor-malities. Karyotype variations included 10 cases of satellite increases in the D/G group, 35 cases of secondary constriction increases, 99 cases of big or small Y chromosome, 6 cases of pericentric inversion of chromosome Y and 30 cases of pericentric inversion of chromosome 9. These results indicated that clinical effect such as abortion, sterility, stillbirth and congenital malformation are mainly related to chromosome polymorphisms.