广西地区200例儿童α地中海贫血血红蛋白H病基因突变的研究.docVIP

广西地区200例儿童α地中海贫血血红蛋白H病基因突变的研究 J0 广 ()F 医科 I 大学2o11J un;28(3)URNAGUANGXMEDICAIUNIVERSITYJ0I()FI… ? 365? ,圣母氍代 《临床研究l{弓珏{} 广西地区200NJL童地中海贫血血红蛋白H病基因突变的研究 余新圆陈萍△陈:强李树全林伟雄谢湘芝梁一丹 (广西医科大学第一附属医院m红蛋白研究室南宁530021) 摘要目的:对广西地区儿童a地中海贫血血红蛋白H病(HbH病)进行基因分析.明确基因突变类型.方法:应用多重 PCR,反向斑点杂交及DNA测序方法进行a地中海贫血基因突变分析;应用统计软件SPSS13.0对数据进行统计分析.结果: 200例HbH病患儿检出104例缺失型HbH病,占52.0,包括67例/d,36例d!,l例/;非缺失型Hb H病96例,占48.0,包括86例/.a,8例.,/aQsa,1例../acsa及1例,a.血红蛋白分析显示非缺失型 HbH病患儿的HbH水平高于缺失型HbH病(P:O.001).结论:广西地区儿童HbH病基因突变类型多样,以缺失型Hb H病为主.首次在广西儿童中检出罕见的a2珠蛋白:鐾因密码子3O缺失及泰国缺失型a地中海贫血导致的HbH病,丰富了 HbH病基因突变的研究,可为遗传咨询及将来的产前诊断提供重要的依据和指导. 关键词a地中海贫血;HbH病;基因型;基因突变 中图分类号:R556.7文献标志码:A文章编号:1005930X(20儿THEGENoTYPINGRESEARCHoN200CHILDRENWITHHEMoGLoBINHDlSEASEIN GUANGXIPRoVINCE YuXinyuan,ChenPing,ChenWenqiang,IiShuquan,LinWeixiong,XieXiangzhi,LiangYidan.(Hemoglo binLaboratory,theFirstAffiliatedHospita1.GuangxiMedicaiUniversity,Nanning530021,China) Abstract0bjective:ToanalyzegenemutationsinchildrenwithathalassemiaHemoglobinH(HbH)dis easeinGuangxiprovince.Methods:ThegenotypeswereanalyzedbymultiplexPCR,reversedotblothybrid— izationandDNAsequencing.ThedatawereprocessedbySPSS13.0statisticalsoftware.Results:Among 200casesofHbHdisease,104casesweredetectedasdeletionalHbHdisease,accountingfor52.0;which including67casesof__SEA/一a.,36casesof__SEA—a.and1caseof__Thaia.While96caseswerenon—de— letionalHbHaccountingfor48.O.Theywere86casesof__SEA/doc,8casesof__SEA/aQa,1caseof__Thai/ aand1caseofSEAa△..Qrespectively.TheresultsofHbanalysisshowedthattheHbHIevelinnon— deletionalgroupWaShigherthanthoseindeletionalgroup(Plt;0.001).Conclusion:Therewerevarious genotypesofHbHdiseaseinthechildrenwilhHbHdiseaseintheregionofGuangxiprovince.Themost commongenotypesweredeletionalHbHdisease.TheraremutationscausingHbHdisease.suchascodon 30deletionofa2globingeneandThailanddeletionaltype.werefirstdescribedinchildrenofGuangxiprov— ince.ThisstudyenrichedtheresearchonHbHdiseases.andwillprovideimportantinformationforgenetic counselingandprenataldiagnosisinthefut