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1、地中海贫血的产前筛查和基因诊断作者：包碧惠1,胡华1,姚宏1,张晓莉2单位：第三军医大学西南医院：1妇产科,2检验科，重庆摘要：目的分析孕妇血液学指标与地中海贫血(简称地贫)各基因型的关系，探讨地贫产前筛查的可靠依据。方法在本院所有产前检查人群中广泛开展地贫的血液学筛查，进行阳性病例基因检测，确诊后筛查配偶,夫妇患同型地贫者进行产前诊断;疑似β地贫夫妇行β基因突变热点测序、比对，探查未知突变。结果疑似地贫孕妇115例，确诊73例，夫妇同患fealpha;地贫1对、β地贫3对，产前诊断重型地贫患儿3例。Hb、MCV、R
2、BC^RDW、HbA2在α、β、α/β与β/β间差异有统计学意义(P<0.01)。疑似β地贫的样本大多呈2~5个SNP杂合状态。结论重庆为β地贫的高发区，红细胞参数和定量血红蛋白电泳是筛查地贫的重要指标，gap-PCR、PCR-RDB、基因测序可明确诊断，切实干预地贫的出生缺陷。关键词:地中海贫血;产前筛查;基因诊断中图法分类号:R446.9;R556.61;R714.55文献标识码:APrenataiscreeningandgeneticdiagnosis
3、ofthalassemiaBAOBi-hu订，HUHual,YAOHongl,ZHANGXiao-li2,CHANGQingl(IDepartmentofGynaecologyandObstetrics,2DepartmentofClinicalLaboratories,SouthwestHospital,ThirdMilitaryMedicalUniversity,Chongqing400038,China)Abstract:ObjectiveToexplorereliableevidencesforthalassemicprenatalscr
4、eeningbyinvestigatingthecorrespondingrelationshipofhematologicindexesandthalassemicgenotypesinpregnantwomen.MethodsGenerallyhematologicdetectionforthalassemiawascarriedoutontheperipheralvenousbloodsamplesofallprenatalchecked-upexpectantmother・Thosesuspectablethalassemicsuffer
5、erswerefurtheridentifiedbygenediagnosis,andthenthehusbandwasdetectedwhenhiswifewasthalassemicpatien.tForthecouplewithsamethalassemiagenetype,prenataldiagnosiswasconducted・Genesofsuspectableβ—thalassemiccouplesweresequenced,andmutationalhotspotsofβ-globinwerestudiedb
6、yBLASTtoexploreunknownmutation.ResuItsTotally115pregnantwomenweresuspectablethalassemia,and73casesamongthemwerefinaldiagnosed.Therewas1coupleofsimuItaneousα—thalassemia,and3couplesofβ-thalassemia・Prenataldiagnosisfound3fetuseswithseriousthalassemia・Hb,MCV,RBC,RDWan
7、dHbA2hadstatisticalsignificancebetweenα,β,α/βandβ/β(P<0・01).Therewereabout2to5SNPinthesuspectableβ—thalassemia・ConclusionThalassemiaisquitecommoninChongqing・Redcellparametersandquantitativehemoglobinelectrophoresisareimportantinallscree
8、ningindexes・Gap-PCR,PCR-RDBandgeneticsequencesanalysisshouldbeusedto
