196对生殖异常夫妇染色体多态性分析

Analysis of chromosomal polymorphism in 196 couples with reproduction abnormality.

目的以生殖异常患者染色体多态性的检出率为主因素进行研究,探讨染色体多态性与生殖异常之间的关系。方法2007年9月至2009年3月来我院就诊的196对生殖异常患者夫妇,双方进行外周血淋巴细胞培养,常规方法制备染色体标本,G+C显带处理后进行核型分析。结果196对(392例)生殖异常夫妇共检出染色体多态性变异29例,其中1、9号染色体次缢痕增加5例;9号染色体臂间倒位8例;D/G组染色体短臂和随体区延长6例;大Y(Y≥18)10例,变异检出率为7.4%。结论染色体多态性在优生遗传咨询过程中应引起高度重视,对多次生育失败者应积极进行染色体检查。同时应积累更多的病例,结合分子细胞遗传学技术进一步了解其导致生殖异常的机制。

Objective： Took on the detection rate of chromosomal polymorphism among reproduction abnormality patients as the primary cause to study the relationship between chromosomal polymorphism and reproduction abnormality. Methods： 196 couples with reproduction abnormality who visited the our hospital during Sep, 2007 - Mar, 2009 was detected. The peripheral blood lymphocyte cultivating, chromatosome specimen preparing by routine method and karyotype analysis after G banding and C banding were applied to the screened couples. Results： 29 cases with chromosomal polymorphism in the 196 couples （392 cases） with reproduction abnormality were detected. Among the cases with chromosomal polymorphism, 5 cases with the SC region lengthened of chromosome 1 and 9 were detected, 8 cases with inv （9） were detected, 6 cases with the short arm lengthened of chromosome D/G group were detected, 10 cases with big Y were detected, which took the total variants rate of 7.4%. Discussion： Chromosomal polymorphism should be paid close attention to in the process of genetic counseling. And more cases should be collected to understand it＇s mechanism of leading to reproduction abnormality combining with molecular cytogenetics technique.