CAJ | 학술논문

目的：了解川南地区β地中海贫血（简称β地贫）发生情况、基因突变类型及构成比，制定β地贫防治计划，有效降低β地贫的发病率提供数据参考。方法采用聚合酶链反应（PCR）和反向斑点杂交（RDB）技术对川南地区疑诊为地贫基因携带者进行β地贫基因分析。结果319例疑似病例中检出192例β地贫基因携带者，检出率为60．1％；17种β地贫基因突变类型中共检出9种，突变频率较高的前3位依次为 CD17（41．3％），CD41‐42（27．39％），IVS‐II‐654（24．35％）。结论川南地区β地贫发生率较高，应加强β地贫血液学筛查和基因诊断，对预防重型地贫患儿的出生有重要意义。
목적：료해천남지구β지중해빈혈（간칭β지빈）발생정황、기인돌변류형급구성비，제정β지빈방치계화，유효강저β지빈적발병솔제공수거삼고。방법채용취합매련반응（PCR）화반향반점잡교（RDB）기술대천남지구의진위지빈기인휴대자진행β지빈기인분석。결과319례의사병례중검출192례β지빈기인휴대자，검출솔위60．1％；17충β지빈기인돌변류형중공검출9충，돌변빈솔교고적전3위의차위 CD17（41．3％），CD41‐42（27．39％），IVS‐II‐654（24．35％）。결론천남지구β지빈발생솔교고，응가강β지빈혈액학사사화기인진단，대예방중형지빈환인적출생유중요의의。
Objective To investigate the types and frequency of gene mutations of β‐thalassemia in south of Sichuan area ,so as to provide basis for β‐thalassemia prevention plan and to help drop β‐thalassemia incidence effectively .Methods Polymerase chain reaction(PCR)and reverse dot blot(RDB)techniques were employed to perform diagnostic analysis for β‐thalassemia genes in sus‐pected thalassemia patient in south of Sichuan region.Results The detection rate of β‐thalassemia was 60 .1% among 319 cases ;9 genes mutation types was found among 17β‐thalassemia genes mutation types .Three types of gene mutations had highest frequency of occurrence ,followed by CD17 41 .3% ,CD41‐42 27 .39% ,IVS‐Ⅱ‐654 24 .35% .Conclusion The gene mutation rate of β‐thalasse‐mia are higher in south of Sichuan region .In order to prevent the birth of children with intermedial and major thalassemia ,the sig‐nificance is important to strengthen hematology screenings and genetic diagnosis for β‐thalassemia.