479对反复自然流产病例的细胞遗传学分析  

Genetic analysis on 479 couples of recurrent pregnancy loss

作　　者：杨凌云[1] 明蕾[1] 孙丽萍[1] 

机构地区：[1]武汉大学人民医院生殖中心遗传室,430060

出　　处：《中国优生与遗传杂志》2011年第11期36-38,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的对反复自然流产患者行染色体核型分析。方法 2006年1月～2010年12月来我院就诊有反复自然流产史的夫妇479对,取双方外周血行染色体核型分析。结果 479对反复自然流产的夫妇中有68对夫妇涉及染色体异常,检出率为14.2%(68/479),男性异常核型52例,女性16例;其中大Y核型最多36例,占男受检人数的7.52%,与正常对照组相比无统计学差异(P>0.05);平衡易位13例,罗伯逊易位6例,占总受检人数的1.98%(19/958);2例9号染色体和1例与11号染色体为臂间倒位;随体变异6例;1、9号次缢痕延长分别2例。结论染色体异常在优生遗传咨询过程中应引起高度重视,对反复自然流产患者应积极进行双方染色体检查。各种异常核型与反复自然流产之间的关系需要积累更多病例行统计学分析,并结合分子细胞遗传学技术进一步了解其机制。Objective： To analyze chromosome karyotype of 479 couples of recurrent pregnancy loss （RPL）. Methods： Chromosome karyotype analysis were performed on 479 couples of RPL who visited our hospital during Jan. 2006 - Dec. 2010. Results： 68 cases with abnormal chromosome in the 479 couples, the ratio is 14. 2% , 52 males and 16 females were detected. Among the cases with abnormal chromosome, There were 7. 52% male patients showing big Y chromosome karyotype which is at most, but there was not statistically significant compared with the collator （P 〉 0. 05 ） ; 13 Balance translocation and 6 Robertsonian translocation, the detection rate was 1.98% （19/958） ; 2 cases with inv （9） and 1 case inv （11 ） were detected; 6 cases with the short ann lengthened or shortened of chromosome D/G group were detected; 2 cases with lqh ＋ and 2 case 9qh ＋ were detected. Conclusions： Abnormal chromosome should be paid close attention to in the process of genetic counseling, Chromosomal analyses should be done on couples with RPL. And more cases should be collected to statistically analyze the relationship between abnormal karyotypes and RPL, and further understand the mechanism combined with molecular cytogenetic techniques.

关 键 词：反复自然流产 染色体核型 细胞遗传学 

分 类 号：R714.21[医药卫生—妇产科学]