第41卷第1期2023年2月广东医科大学学报JOURNALOFGUANGDONGMEDICALUNIVERSITYVol.41No.1Feb.202364不良孕产史夫妇外周血细胞遗传学和临床特征分析王明蕊，叶蔚，张娜，李玉婷（广东医科大学附属医院妇产科，广东湛江524000）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%vs1.3%，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。关键词：出生缺陷；外周血染色体核型分析；不良孕产中图分类号：R329.2+3文献标志码：A文章编号：2096-3610（2023）01-0064-04Analysisoncytogeneticandclinicalcharacteristicsofperipheralbloodlymphocytesofthecoupleswithahistoryofabnormalchild-bearingWANGMing-rui,YEWei,ZHANGNa,LIYu-ting(DepartmentofObstetricsandGynecology,theAffiliatedHospitalofGuangdongMedicalUniversity,Zhanjiang524000,China)Abstract:ObjectiveToexploretheabnormalkaryotypes,polymorphismsandtypesofperipheralbloodlymphocytesofgeneticsconsultingpersonsinZhanjiangtofacilitateclinicaldiagnosisandtreatment,guideprenatalandpostnatalcareandimprovethequalityofbirthpopulationinZhanjiang.MethodsAtotalof223coupleswhoconsultedgeneticsinthishospitalwereselected,ofwhich104coupleswithabnormalchild-bearingweresetastheAbnormalChild-BearingGroupwhile119coupleswithnormalchild-bearingweresetastheNormalChild-BearingGroup.Theperipheralbloodlymphocytesofthetwogroupswerecultured,slicedandsubjecttoG-bandedkaryotypeanalysis.ResultsThedetectionrateofabnormalkaryotypeintheAbnormalChild-BearingGroupwassignificantlyhigherthanthatintheNormalChild-BearingGroup(11.5%vs1.3%,P<0.01);AsforthechromosomekaryotypesintheAbnormalChild-BearingGroup,c...
