南宁某城区6551例β珠蛋白生成障碍性贫血基因检测结果分析

Analysis of gene detection results from 6551 cases of beta thalassemia in an urban area of Nanning City

目的了解广西南宁江南区人群β珠蛋白生成障碍性贫血(简称地贫)点突变的基因型特点。方法采用反向斑点膜条杂交技术对6 551例受试者进行β地贫基因分析。结果在6 551例受检者中检出β地贫基因1 242例,其中杂合子1 238例,双重杂合子3例,纯合子1例。共发现11种β地贫基因突变位点,共15种基因类型,其中最为常见的是CD41-42(561例),其次是CD17(339例)、-28(97例)、IVS-Ⅱ-654(75例)、β~E(72例)、CD71-72(53例)、IVS-Ⅰ-1(26例)、CD43(10例)、-29(3例)、CAP(1例)、CD27/28(1例)、CD41-42位点复合β~E位点(1例)、CD41-42位点复合CD17位点(1例)、CD17位点复合β~E位点(1例)、β~E位点纯合子(1例)。结论南宁市江南区人群β地贫基因携带者较多,绝大多数为杂合子,以CD41-42基因型最为常见,极个别为中间型或重型β地贫。

Objective To understand the genotypic characteristics of beta-thalassemia point mutation in Jiangnan District of Nanning City of Guangxi. Methods The polymerase chain reaction-reverse dot blot hybridization （PCR-RDB） technique was adopted to conduct the beta-thalassemia gene analysis in 6 551 subjects. Results Among 6 551 subjects,1 242 cases of beta-thalassemia gene was detected,including 1 238 cases of heterozygotes,3 cases of double heterozygotes and 1 case of homozygous.Eleven kinds of beta-thalassemia gene mutation and 15 types of genotype were found,in which the most common genotype was CD41-42 （561 cases）,followed by CD17 （339 cases）,-28 （97 cases）,IVS-Ⅱ-654 （75 cases）,β E （72 cases）,CD71-72 （53 cases）,IVS-Ⅰ-1 （26 cases）,CD43 （10 cases）,29 （3 cases）,CAP （1 case）,CD27/28 （1 case）;including CD41-42 composite β E （1 case）,CD41-42 composite CD17 （1 case）,CD17 composite β E （1 case）,β E homozygous （1 case）. Conclusion There are many beta-thalassemia gene carriers among the populations in Jiangnan District of Nanning City.The majority type is heterozygotes,CD41-42 genotype is most common,and very few individuals are intermediate type or severe beta-thalassemia.