海南省黎族人群中β-地中海贫血CD26(G→A)突变的研究

目的:建立β-地中海贫CD26(G→A)突变的基因诊断快速、有效的直接检测方法;筛查海南省黎族人群中CD26(G→A)突变的携带率。方法:应用等位基因特异性聚合酶链反应(PCR)技术筛查海南省白沙、昌江、陵水、琼中、保亭等县黎族人群中β-地中海贫血CD26(G→A)突变,并对1例β-地中海贫血高危胎儿进行了产前基因诊断。结果:共筛查了788例黎族人DNA标本,未发现β-地中海贫血CD26(G→A)突变;产前基因诊断结果:父亲为CD71-72(+A)/N杂合子,母亲为CD26(G→A)/N杂合子,胎儿正常,胎儿出生后的基因分析验证结果与产前基因诊断完全一致。结论:CD26(G→A)突变不是海南省黎族人群中主要的β-地中海贫血的基因类型;作者建立的检测CD26(G→A)突变的等位基因特异性PCR可作为β-地中海贫血基因诊断和产前基因诊断的一种快速、有效、经济的直接检测方法。

INVESTIGATION OF CD26 (G →A)MUTATION TYPE OF β- THALASSEMIA MUTATION IN LI NATIONALITY OF HAINANPROVINCE

Objective:To establish a fast, effective method for genetic diagnosis of CD26(G→A)mutation type of β-thalassemia mutation, and screening the incidence of CD26(G→A)mutation type of β-thalassemia mutation in Li nationality of Hainan province. Method:Allele-specific polymerase chain reaction(PCR) was used to detect CD26(G→A)mutation in Li nationality of Baisha, hangjiang- Lingshui, Qiongzhong and Baoting county of Hainan province;And perform prenatal diagnosis of a high risky fetus with β-thalassemia. Results:None of 788 individuals of Li nationality was found to be the carriers of CD26(G→A)mutation;The results of the prenatal diagnosis is that the father was a heterozygote of CD71-72 (+ A)/N, mother was a heterozygote of CD26(G→A)/N and the fetus was normal. The gene analysis result after the fetus was born is consistent with the result of the prenatal diagnosis. Conclusion:The CD26(G→A) mutation was not the main types of β-thalassemia in Li nationality of Hainan province;The constructed allele-specific PCR of CD26(G→A) mutation can be a fast, effective, economic detecting way for genetic diagnosis and prenata diagnosis of β-thalassemia.