宝鸡地区1674对生育异常夫妇的细胞遗传学分析  

Cytogenetic analysis of 1674 couples with abnormal fertility in Baoji area

作　　者：韩凯[1] 杨鹏[1] 唐凯[1] 成艳[1] 张娟玲[1] 王文娟[1] 权秋宁[1] HAN Kai;YANG Peng;TANG Kai;CHENG Yan;ZHANG Juanling;WANG Wenjuan;QUAN Qiuning(Genetic and Eugenic Laboratory,Baoji Maternal and Child Health Care Hospital,Baoji 721000,China)

机构地区：[1]宝鸡市妇幼保健院遗传优生实验室,陕西宝鸡721000

出　　处：《临床医学研究与实践》2023年第23期1-4,共4页Clinical Research and Practice

摘　　要：目的分析宝鸡地区生育异常夫妇染色体异常情况,为临床诊治提供参考。方法选取2010—2020年于宝鸡市妇幼保健院生殖中心进行咨询和检查的1674对生育异常夫妇为研究对象。所有研究对象均行染色体G显带核型检查。分析染色体异常的检出情况及临床特征。结果1674对(3348例)生育异常夫妇中共检出染色体异常341例,其中数目异常21例,检出率为0.63%;结构异常41例,检出率为1.22%;多态性变异279例,检出率为8.33%。341例染色体异常中,前3位为Y染色体多态性(167例)、D/G组随体变异(53例)、易位(34例)。男性的染色体异常检出率高于女性(P<0.05)。结论染色体异常是生育异常的重要原因,对生育异常夫妇进行孕前遗传咨询和检测,有助于查明病因、指导生育及产前诊断,避免因遗传因素导致的生育异常。Objective To analyze the chromosome abnormality of couples with abnormal fertility in Baoji area,and to provide refereces for clinical diagnosis and treatment.Methods A total of 1674 couples with abnormal fertility who consulted and examined in the reproductive center of Baoji Maternal and Child Health Care Hospital from 2010 to 2020 were selected as the research objects.All research objects underwent chromosome G-banding karyotype examination.The detection status and clinical characteristics of chromosome abnormality were analyzed.Results A total of 341 cases of chromosome abnormality were detected in 1674 couples(3348 cases)with abnormal fertility,including 21 cases of numerical abnormality,with a detection rate of 0.63%;41 cases of structural abnormality,with a detection rate of 1.22%;279 cases of polymorphic variation,with a detection rate of 8.33%.Among the 341 cases of chromosome abnormality,the top three were Y chromosome polymorphism(167 cases),D/G group satellite variation(53 cases)and translocation(34 cases).The detection rate of chromosome abnormality in males was higher than that in females(P<0.05).Conclusion Chromosome abnormality is an important cause of abnormal fertility.Pre-pregnancy genetic counseling and testing for couples with abnormal fertility can help to identify the cause,guide fertility and prenatal diagnosis,and avoid abnormal fertility caused by genetic factors.

关 键 词：染色体异常 生育异常 数目异常 结构异常 多态性变异 

分 类 号：R714.2[医药卫生—妇产科学]