吉安地区不良孕产史夫妇的细胞遗传学研究  

The research of history couple of bad motherhood cell genetics

作　　者：张万兴[1] 李玲[1] 张彤[1] 徐志安[1] 吴风珍[1] 郭毅[1] 罗文华[1] 王欢[1] 

机构地区：[1]江西省吉安市妇幼保健院,343000

出　　处：《中国优生与遗传杂志》2008年第12期57-58,59,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究咨询者外周血染色体异常情况与临床效应以及明确病因学诊断,对异常染色体患者夫妇采取综合防治措施,防止染色体病患儿及携带者的出生。方法采用外周血淋巴细胞培养、常规制备染色体标本G显带,显微镜下分析。结果在1823例就诊者中检出异常染色体核型121例,异常检出率为6.64%,其中常染色体异常22例,性染色体异常53例。多态性染色体46例,占受检人次的2.52%,检出单个细胞染色体异常核型7例,出现率为0.38%。结论新发现的异常染色体核型5种8例为世界首次报告,它的发现既丰富了人类异常染色体数据库资料,又为基础研究提供材料,为不良生育史的夫妇提供了明确的病因学诊断;对优生优育工作具有重要的意义;有不明原因不良孕产史夫妇的染色体多态性应引起高度重视。Objective： To study the advisory chromosomal abnormalities in the peripheral blood and clinical effects as well as a clear etiological diagnosis of the patients with abnormal chromosomes couples adopt comprehensive preventive measures to prevent children with chromosome carriers and birth. Methods： The peripheral blood lymphocyte culture, the conventional chromosome samples of G -banding, GVEMXA stain analysis under the microscope. Results： Abnormal karyotype were 121 cases of abnormal detection rate of 6. 64% , of which 22 cases often chromosomal abnormalities, abnormalities of chromosome 53 cases, 46 cases of chromosome polymorphism, accounting for 2. 52 percent of the number of subjects, and the detection of single Karyotype of seven cases, a rate of 0. 44 per cent. Conelosion： Karyotype often found in the new five nine kinds of the world＇s first report, which found not only enriched the human chromosome abnormalities databases, and provide for the basic research materials, abnormal karyotype of the couples clear etiology diagnosis; Improre birth quality Healting birth work on the important significance to the history of unknown cause adverse pregnancy chromosome pelymorphism couples should attach great importance.

关 键 词：不良孕产史 遗传咨询就诊者 异常染色体核型 多态性染色体 优生 

分 类 号：R714.2[医药卫生—妇产科学]