贵阳地区孕期夫妇β-地中海贫血血液学筛查及基因突变分析的研究

Blood Screening and gene mutation analysis of β-thalassemia in the pregnant couples in Guiyang area

目的 为丰富人类基因组多样性研究和疾病分析研究的内容 ,对贵阳地区进行大样本孕期夫妇 β -地中海贫血筛查及基因突变的分析。方法 采用红细胞渗透休克试验和血红蛋白F(HbF)及血红蛋白A2 (HbA2 )定量测定 ,对孕期夫妇进行 β -地中海贫血血液学筛查 ,阳性者采用PCR -RDB法进行基因突变分析。结果 在受检的 10 5 4例中 ,共检出 β-地中海贫血携带者 2 8例 ,发生率为 2 6 6 %。 结论 通过对贵阳地区孕期夫妇进行的β-地中海贫血调查 ,基因分析 ,为今后对该地区人群进行生育指导 ,产前基因诊断 ,提高人口素质具有重要意义。

Objective To find out the incidence,genotypes and its frequence of β-thalassemia trait in pregnant couples in Guiyang.Methods The HbF and HbA 2 were determined by the AM-electrophoresis to riddle out the heterozygotes of β-thalassemia.DNA was extracted from white blood cell by rountine method,then amplified and analysed by PCR and RDB(reverse dot blot) hybridization.Results There were 28 cases with β-thalassemia in 1054 population.The positive rate was 2 66%.Conclusion Those data are useful in the eugenics,prenatal gentetic diagnosis so as to improve the quality of the population in this area.