564例生育异常患者外周血染色体核型分析研究.pdfVIP

中文科技期刊数据库（全文版）医药卫生 564 例生育异常患者外周血染色体核型分析研究 王翠佳 刘丽娜 吴 飞 北京市顺义区妇幼保健院·北京儿童医院顺义妇儿医院遗传与生殖中心，北京 101300 摘要：目的通过回顾性分析因生育异常问题在我院遗传与生殖中心咨询的564 例患者的检查情况，根据外周血 染色体核型结果，分析生育异常与染色体异常的相关性。方法 选取来我院因生育异常而进行遗传咨询的564 例 人员作为研究对象，通过抽取外周血，然后进行淋巴细胞培养、收获、制片、G 显带、上机扫片、分析报告等一 系列操作。结果 显示在564 例遗传咨询者中，有30 例异常核型，总异常检出率达到5.3% （30/564）;其中包含 22 例染色体多态性，异常检出率达到3.9%，占异常核型总数比率达到73.3% （22/30）;染色体结构异常为7 例， 异常检出率达到1.2%，占异常核型总数比率达到23.3% （7/30）;染色体数目异常1 例, 异常检出率达到0.18%， 占异常核型总数比率达到3.3% （1/30）。结论 本研究结果显示生育异常患者中染色体异常结果处于较高水平，对 生育异常患者行外周血染色体核型检查非常必要。对指导临床诊断和优生提供参考依据，减少和避免染色体病的 发生，提高人口总质量。 关键词：染色体核型分析；染色体异常；遗传咨询；生育异常 中图分类号：R361 Analysis of chromosome karyotypes in peripheral blood of 564 patients with abnormal fertility WANG Cuijia LIU Lina WU Fei Department of Genetics and Reproductive Medicine, Shunyi Maternal and Children’s Hospital, Beijing 101300 Abstract :Objective To analysis the correlation between chromosomal abnormalities and abnormal fertility by a retrospective analysis of chromosome karyotypes in 564 patients with abnormal fertility. Methods Through the cultivation of peripheral blood, treatment by G banding, analysis the chromosome karyotypes of 564 prepared chromosome specimens. Results Thirty patients had abnormal karyotypes in 564 total participants and the total abnormality detection rate was 5.3% (30/564); 22 patients had chromosome polymorphism, with the total abnormality detection rate 3.9% and chromosomal abnormalities rate 73.3% (22/30); 7 chromosomal structural abnormalities with the total abnormality detection rate 1.2% and chromosomal abnormalities rate 23.3% (7/30); one chromosomal number abnormalitiy with the total abnormality detection rate 0.18% and chromosomal abnormalities