CAJ | 학술논문

目的了解德宏地区地中海贫血(简称地贫)检出率和基因缺失突变类型.方法先以红细胞指数、微量血红蛋白电泳、HbA2定量等进行初筛,然后以PCR和反向点杂交技术鉴定β-地贫基因突变类型;以跨跃断裂位点PCR(GAP-PCR)技术和凝胶电泳鉴定α-地贫基因缺失类型,最后再对所有β-地贫阳性样本进行α-地贫基因检测.在选定的先证者所能寻找到的家族成员中采集血样,直接检测基因类型并展开家系调查.结果 3 018例受检者中检出α-、β-地贫阳性848例,总检出率为28.10%,其中α-地贫554例(18.36%)、β-地贫385例(包括HbE 375例)检出率为12.76%;β-地贫复合α-地贫检出率为22.60%;在4例家系调查先证者的56例家族成员中检出阳性44例(78.5%).结论跨跃断裂位点PCR和反向点杂交技术能快速检测3种常见缺失型α-地贫和β-地贫基因突变,具有简便、快捷和准确的特点;德宏地区是我国地贫特别高发地区,需加强婚前检查及产前诊断.
목적 료해덕굉지구지중해빈혈(간칭지빈)검출솔화기인결실돌변류형.방법 선이홍세포지수、미량혈홍단백전영、HbA2정량등진행초사,연후이PCR화반향점잡교기술감정β-지빈기인돌변류형;이과약단렬위점PCR(GAP-PCR)기술화응효전영감정α-지빈기인결실류형,최후재대소유β-지빈양성양본진행α-지빈기인검측.재선정적선증자소능심조도적가족성원중채집혈양,직접검측기인류형병전개가계조사.결과 3 018례수검자중검출α-、β-지빈양성848례,총검출솔위28.10%,기중α-지빈554례(18.36%)、β-지빈385례(포괄HbE 375례)검출솔위12.76%;β-지빈복합α-지빈검출솔위22.60%;재4례가계조사선증자적56례가족성원중검출양성44례(78.5%).결론 과약단렬위점PCR화반향점잡교기술능쾌속검측3충상견결실형α-지빈화β-지빈기인돌변,구유간편、쾌첩화준학적특점;덕굉지구시아국지빈특별고발지구,수가강혼전검사급산전진단.
Objective The purpose of this study is to investigate the incidence ratio and mutation type of thalassemia in the Yunan Dehong region.Methods At first,The samples are screened by means of red-cell exponent,micro-dosage hemoglobin electrophoresis,Hemoglobin A2 quantitation respectively.Then the β-thalassemia mutation genotyping were identified through reverse dot-blotting hybridization technique.The α-thalassemia gene deletion were diagnosed by GAP-PCR and gel electrophoresis.the positive samples of β-thalassemia were detected with α-thalassemia gene deletion screening.Finally,We collect the blood specimen and carry on the pedigree investigation in which we detecte the genotype in selected probands of the family members.Results Altogether 848 cases(28.10%)were the positive among 3018 samples who were detected α,β-thalassemia.In 848 positive cases,554 cases are α-thalassemia,β-thalassemia(including HbE375 cases)were 385 cases,the positive rate is 12.76%.The incidence rate of β-thalassemia recombination α-thalassemia was 22.60%.There are 44 positive cases of which 56 family members were detected in 4 proband investigation.Conclusion The thalassemia can be rapidly,simply and relagative accurately detected by using reverse dot-blotting hybridization membrane chip and GAP-PCR;Thalassemias was severe in Yunnan Dehong.