中国东北地区人群中不良孕产夫妇的细胞遗传学分析

目的 观察染色体异常在中国东北地区不良孕产夫妇中的分布类型及其与不良孕产的关系.方法 对来自辽宁省生殖健康重点实验室的2158对不良孕产夫妇进行细胞遗传学分析,普通G显带方法分析细胞核型,必要时采用C或R显带方法.结果 在2158对不良孕产夫妇中发现染色体异常137例,异常率为3.17%.其中数目异常3例,结构畸变134例.结构畸变中分别为相互易位90例,罗迫逊易位34例,倒位9例,缺失1例,经中国医学细胞遗传学国家培训中心(湖南)鉴定,43例为国内外首次报道.染色体异态378例,异态率8.76%.结论 在中国不良孕产夫妇中发生的染色体异常主要是染色体结构畸变,异常类型复杂、多样,其中染色体相互易位和罗迫逊易位所占比例最大,并呈现出随着流产次数的增加染色体异常率也增加的趋势.同时,染色体异态在不良孕产夫妇中发生率较高.细胞遗传学分析是不良孕产夫妇病因诊断的一个重要指标.

Cytogenetic Study on Couples with a History of Reproductive Failure in North-east China

Objective Chromosome anomaly is an important risk factor for reproductive failure. This study is conducted to investigate the incidence of chromosome abnormalities in couples with reproductive failure in north-east China and to explore the relationship between chromosome abnormalities and reproductive failure.Methods A total of 2158 couples with reproductive failure were enrolled. Lymphocyte euhure and harvestwere performed according to standard methods. Karyotypes were analyzed by G-bending in all cases and C-ban-ding or R-banding in some eases if necessary. Results Altogether 137 abnormal karyotypes were found and the chromosomal abnormality rate was 3.17%. Among them 3 were numeral abnormalities, 134 were structural ab-errations including 90 cases of reciprocal translocations, 34 cases of Roertsonian translocations, 9 cases of in-versions and 1 case of deletion ; 43 kinds of which were identified as the first reported karyotypes in the world by the National Teaching Center of Medical Cytogenetics in Hunan, China. 378 chromosome heteromorphism were also detected and the rate was 8.76%. Conclusion Structural aberrations were the major abnormal karyotypes in couples with reproductive failure. Reciprocal and Robertsonian translocations occupied the largest proportions in structural aberrations, and a tendency that the rate of chromosome aberration increases with the times of mis-carriages was presented. In addition, heteromorphisms rate of chromosomes was high in such patients. Chromo-some analysis was an important and necessary part of the etiological research in couples with reproductive fail-ure.