南川地区地中海贫血基因分型的分析

Analysis of thalassemia genotypes in Nanchuan region

目的探讨南川地区人群中α和β地中海贫血的基因类型及构成比。方法采用跨越断裂点PCR技术(gap-PCR)和反向斑点杂交(RDB)技术对南川地区疑似地中海贫血患者进行α、β地中海贫血基因诊断分析。结果 1 001例受检者中确诊为地中海贫血的患者390例(38.96%),其中,α地中海贫血171例(17.08%),β地中海贫血219例(21.88%)。α地中海贫血最常见的缺失类型为-sea/aa,其次为-3,7/aa、-4,2/aa;其构成比分别为74.27%、23.39%、1.75%。β地中海贫血最常见的基因突变类型为CD17型(88例),其次为CD41-42型(65例)、IVS-Ⅱ-654型(35例)、CD43型(15例)、-28型(8例)、-29型(3例)、CD17-28型(2例)、CD14-15型(1例)、CD71-72型(1例)、βE型(1例)。α地中海贫血合并β地中海贫血15例。结论南川地区地中海贫血基因突变的类型以-sea/aa及CD17型为主。

Objective To explore the α and β thalassemia genotypes and their constituent ratios among people in Nanchuan region. Methods Gap-PCR and reverse dot blot（RDB） techniques were employed to perform diagnostic analysis for α and βthalasse mia genes in suspected thalassemia patients in Nanchuan region. Results Among 1 001 subjects,390（38.96%） were diagnosed as thalassemia definitely with 171 （17.08 %） cases of α thalassemia and 219 （21.88 % ） cases of 13 thalassemia. The most common dele tion genotype of α thalassemia was - sea/aa, followed with -3,7/aa and -4,2/aa. Their constituent ratios were 74.27 %, 23.39 %, 1.75% ,respectively. The most common mutation genotype was CD17（80 cases）,followed with CD41-42（65 cases）,IVS-Ⅱ-654（35 cases）, CD43 （15 cases）, -28 （eight cases）, - 29 （three cases）, CD17-28 （two cases）, CD14-15 （one case）, CD71-72 （one case）, 13E （one case）. There was 15 cases of α thalassemia combined with β thalassemia. Conclusion The major mutation types of thalassemia gene are -sea/aa and CD17 in Nanchuan region.