摘要
目的研究广东省茂名地区α和β地中海贫血基因型分布特征。方法对2009年4月至2013年6月本院检验科遗传学实验室检测的2 198例地中海贫血基因诊断结果进行分析。其中α-地中海贫血采用跨越断裂点PCR(Gap-PCR)基因诊断技术,β-地中海贫血采用PCR结合反向点杂交RDB(PCR-RDB)方法。结果2 198例地中海贫血标本中,检测出缺失型α-地贫1 083例,最常见的基因类型是-^(SEA)/αα;检验出β-地贫622例,共有11种基因型,最常见的基因型是CD41/42(-TCTT),其次是IVS-Ⅱ-654(C>T);检出β复合α地贫基因84例。结论茂名地区α缺失型地贫以~^(SEA)/αα为主;β-地贫突变类型排在前四位的是CD41/42(-TCTT)、IVS-Ⅱ-654(C2>T)、-28(A>G)和CD17(A>T);β复合α地贫基因检出率为13.5%。本研究为茂名地区制定人群筛查地中海贫血预防计划和遗传咨询、产前诊断提供了有价值的基础资料;基因检测对于地中海贫血的临床诊断、治疗和预防有重要的意义。
Objective To probe the distribution features of α and α-thalassemia genotypes in Maoming area of Guangdong Province. Method An analysis was made on the gene diagnosis results of 2 198 cases of thalassemia patients who had been detected in the gene lab of Test Department of our hospital from April 2009 to June 2013. The PCR （polymerase chain reaction）（GAP-PCR） gene diagnosis technology was used for the α-thalassemia patients and the PCR combining with RDB （reverse dot blot） （PCR-RDB） technology was used for the β-thalassemia patients. Result Among the 2 198 cases samples from thalassemia patients, 1 083 cases were detected to be the α-thalassemia deficiency type, in which the SEA/ etotwas the popular genotype; 622 cases were detected to be the β-thalassemia, including 11 genotypes, in which the CD41-42 （-TCTT） was in the first place and the IVS-II-654 （C〉T） in the second and 84 cases were detected to be the β-thalassemia combining with α-thalassemia. Conclusion The SEA/ctcttype is prevailed among the α-thalassemia deficiency types in Maoming area. The top 4 types of gene mutation of β-thalassemia are as follows： CD41-42（-TCTr）, IVS-II-654（C〉T）, -28（A〉G） and CD17 （A〉T）. The gene detection rate of [3-thalassemia combining with α-thalassemia is 13.5%. This study provides valuable basic material for the making of preventive plan that screening the thalassemia among the mass in Maoming area, gene consultation and prenatal diagnosis. The gene detection has important significance for the clinical diagnosis, treatment and prevention of thalassemia.
出处
《分子诊断与治疗杂志》
2014年第3期187-190,共4页
Journal of Molecular Diagnostics and Therapy
