资源描述:
《11205例羊水产前诊断的细胞遗传学分析》由会员上传分享,免费在线阅读,更多相关内容在工程资料-天天文库。
1、11205例羊水产前诊断的细胞遗传学分析何萍1,2梁昕1,2韦小妮1,2(1柳州市妇幼保健院医学遗传科广西柳州545001)(2柳州市出牛缺陷预防与控制重点实验室广西柳州545001【摘要】目的:探讨羊水细胞核型异常的细胞遗传学原因与预防。方法:釆用培养瓶法培养羊水细胞8〜12天、外周血淋巴细胞72小时培养及染色体常规制备方法,G显带技术进行染色体核型分析。结果:11205例羊水产前诊断病例中检出异常染色体核型445例(不包括羊水细胞核型为镶嵌体而复查脐血无异常的病例),检出率3.97%。其中,染色体结构异常为265例,占异常核型的59.55%,244例遗传自父方或母方,占92.08%
2、,21例为新发突变,占7.92%;数目异常为180例。结论:父方或母方为异常核型携带者是造成胎儿羊水细胞染色体核型异常的主要原因,孕前夫妻双方行外周血染色体检查及产前诊断是预防和减少染色体异常儿出生的最有效手段。【关键词】产前诊断;羊水细胞染色体;外周血淋巴细胞染色体;核型分析【中图分类号】R714【文献标识码】A【文章编号】1007-8231(2015)15-0063-02Cytogeneticanalysisof11205casesofamnioticfluidprenataldiagnosisHePingl,2LiangXinl,2WeiXiaonil,21.Department
3、ofmedicalgenetics,LiuzhouMaternalandChildCareHospital,2.LiuzhouKeyLaboratoryofBirthDiseasePreventionandControl,Liuzhou,Guangxi,China,545001【Abstract】ObjectiveTolinvestigatecausesofamnioticfluidcellsabnormalkaryotypegeneticsandprevention.MethodsByusingcultureflaskcultivationofamnioticfluidcells8t
4、o12daysofperipheralbloodlymphocytesof72hoursoftrainingandchromosomeconventionalpreparationmethods,Gbandingtechniqueforchromosomekaryotypeanalysis.ResultsDetectedin11205casesoftheamnioticfluidprenataldiagnosisabnormalkaryotypein445case(notincludingtheamnioticfluidcellskaryotypeformosaicsreviewcas
5、esofumbilicalcordbloodwithoutexception),thedetectionrateof3.97%,abnormalchromosomestructurefor265case,59.55%ofabnormalkaryotype,244casewasinheritedfromthepaternalormaternal,accountedfor92.08%,21caseofnewmutations,accountedfor7.92%;Numberofabnormalfor180case.ConclusionPaternalormaternalforabnorma
6、lkaryotypecarriersisthemaincauseoffetalamnioticfluidcellsabnormalchromosomekaryotypeandpregnancylinebothsidesofhusbandandwifeperipheralbloodchromosomeexaminationandprenataldiagnosisistopreventandreducethemosteffectivemeansofchromosomeabnormalitysonwasborn.【Keywords]Prenataldiagnosis;Chromosomesf
7、romamnioticfluidcells;Peripherallymphocytechromosome;Karyotypeanalysis染色体是主要遗传物质——DNA的载体。人类正常的染色体核型为46,XX或46,XYo若染色体数目或结构发生改变就称为染色体异常(chromosomeabnormality),也叫染色体发育不全(chromosomedysgenesisjo染色体异常包括常染色体异常和性染色体异常。自1971年巴黎国际命名会议