不良孕产史夫妇外周血细胞遗传学和临床特征分析  

Analysis on cytogenetic and clinical characteristics of peripheral blood lymphocytes of the couples with a history of abnormal child-bearing

作　　者：王明蕊 叶蔚 张娜 李玉婷 WANG Ming-rui;YE Wei;ZHANG Na;LI Yu-ting(Department of Obstetrics and Gynecology,the Affiliated Hospital of Guangdong Medical University,Zhanjiang524000,China)

机构地区：[1]广东医科大学附属医院妇产科,广东湛江524000

出　　处：《广东医科大学学报》2023年第1期64-67,共4页Journal of Guangdong Medical University

基　　金：湛江市非资助科技攻关专题(2021B01059)。

摘　　要：目的 探讨湛江地区遗传咨询者外周血淋巴细胞染色体核型异常、多态发生率及类型,帮助临床诊疗、指导优生优育和提高湛江地区出生人口素质。方法 选取该院行遗传咨询的223对夫妇,其中将不良孕产的104对夫妇设为不良孕产组,正常孕产的119对夫妇设为正常孕产,对两组外周血淋巴细胞进行培养、制片及G显带染色体核型的分析。结果 不良孕产组染色体核型异常检出率明显高于正常孕产组(11.5%vs 1.3%,P<0.01);不良孕产组的染色体核型中主要表现为染色体呈多态性占33.3%,臂间倒位占33.3%,平衡易位占29.2%,常染色体数目异常占4.2%。结论 夫妻双方染色体核型异常和染色体多态性是生育异常的重要因素之一,需对生育异常的夫妇进行染色体检查,以提高人口质量。Objective To explore the abnormal karyotypes, polymorphisms and types of peripheral blood lymphocytes of genetics consulting persons in Zhanjiang to facilitate clinical diagnosis and treatment, guide prenatal and postnatal care and improve the quality of birth population in Zhanjiang. Methods A total of 223 couples who consulted genetics in this hospital were selected, of which 104 couples with abnormal child-bearing were set as the Abnormal Child-Bearing Group while 119couples with normal child-bearing were set as the Normal Child-Bearing Group. The peripheral blood lymphocytes of the two groups were cultured, sliced and subject to G-banded karyotype analysis. Results The detection rate of abnormal karyotype in the Abnormal Child-Bearing Group was significantly higher than that in the Normal Child-Bearing Group(11.5% vs 1.3%,P<0.01);As for the chromosome karyotypes in the Abnormal Child-Bearing Group, chromosomal polymorphism accounted for 33.3%, pericentric inversion accounted for 33.3%, balanced translocation accounted for 29.2%, and abnormal number of autosomal chromosomes accounted for 4.2%. Conclusion The abnormal karyotype and chromosomal polymorphism in both husband and wife are important factors of abnormal fertility. It is necessary to carry out chromosomal examination for the couples with abnormal fertility to improve the quality of the population.

关 键 词：出生缺陷 外周血染色体核型分析 不良孕产 

分 类 号：R329.23[医药卫生—人体解剖和组织胚胎学]