云南傣族儿童中α地中海贫血基因突变类型研究

目的探讨云南傣族群体中α地中海贫血基因突变类型及其分布特点,为该病的分子诊断及防治策略选择提供参考数据。方法运用单管多重Gap-PCR,联合ARMS法及DNA测序技术,对202例α地中海贫血初筛阳性的云南傣族儿童进行中国人中常见的3种缺失型及2种非缺失型α珠蛋白基因突变类型的检测。结果共有125例（61.88%）携带有α地中海贫血基因突变,检测出--SEA、-α3.7、-α4.2、αCS和αQS5种基因突变类型,构成9种基因型。其中以αα/--SEA（33.66%）和αα/-α3.7（15.35%）最为多见,有77例（38.12%）未检测出上述5种常见突变类型。用联合ARMS法检测αCS和αQS突变的结果与DNA序列测定结果一致。结论云南傣族α地中海贫血具有明显的遗传异质性,突变分布具有自身的特点。傣族中可能存在罕见或未知的α地中海贫血基因变异,具有更加复杂的分子病理机制,需要进一步研究以选择有针对性的分子诊断技术和疾病预防策略。

The study of alpha-thalassemia mutations in Dai ethnic children in Yunnan

Objective: To investigate the genetic characteristics of alpha-thalassemia in Dai ethnic group in Yunnan,China,and provide reference data for molecular diagnosis and prevention strategy making of alpha-thalassemia.Methods: Single tube multiplex Gap-PCR,combine-amplification refractory mutation system,Combine-ARMS and DNA sequencing were used to detect 3 deletional and 2 non-deletional common alpha-globin gene mutations of Chinese in 202 cases of alpha-thalassemia pre-screened Dai ethnic children in Yunnan,China.Results:Alpha-globin gene mutations were detected in 125 out of 202(61.88%) cases.5 mutations,——SEA、-α3.7、-α4.2、αCS and αQS,were found and formed 9 genotypes.αα/——SEA(33.66%)and αα/-α3.7(15.35%)were common mutant genotypes in the studied children,still the five alpha-globin gene mutations weren′t found in 77(38.12%) cases.Conclusions: The Dai ethnic group has significant genetic heterogeneity in alpha-thalassemia and has their own mutation spectrum.There could be rare or unknown alpha-thalassemia mutations in the Dai group in Yunnan,which results in more complex molecular pathogenesis.Further research is necessary for selecting targeted molecular diagnostic technoiques and prevention strategies against alpha-thalassemia.