【摘要】 目的报道1例中国人少见的β地中海贫血基因突变及其产前诊断结果。方法采用PCR产物直接DNA序列分析法对1例父亲和胎血标本进行检测。结果父亲和胎儿均携带一种中国人少见的β地中海贫血基因突变CD 37(TGG→TGA)。结论β地中海贫血基因37(TGG→TGA)突变的报道,丰富了中国人β地中海贫血基因突变谱,对于指导人群筛查、遗传咨询和产前诊断具有重要价值。更多还原

【Abstract】 Objective:To present the first description of a Chinese family with a rare β-thalassemia mutation commonly observed in Arabs.Methods:The β-globin gene was amplified by PCR and the PCR product was analyzed by direct nucleotie sequencing.Results:The father and the fetus were heterozygous for a codon 37(TGG→TGA) mutation.Conclusions:This mutation could be added to the more than 30 different β-thalassemia mutations that have been identified among Chinese population so far.更多还原