481例珠蛋白生成障碍性贫血疑似患者基因突变类型分析

Gene mutation analysis in 481 suspected patients with thalassemia in certain area

目的了解珠蛋白生成障碍性贫血(THal)疑似患者中α-THal与β-THal基因型分布情况。方法采用单管多重gapPCR技术检测3种常见的缺失型α-THal基因,PCR结合反向点杂交法检测β珠蛋白基因17个突变位点。结果 481例疑似患者中,α-THal检出率为29.5%(142/481),-SEA/αα型α-THal基因总检出率最高,为22.7%(109/481);β-THal检出率为23.9%(115/481),CD41-42、IVS2nt654、CD17、-28型β-THal基因检出率依次为7.5%、5.0%、4.2%、2.5%;检出3例αβ复合型THal。结论该地区THal疑似患者中α和β-THal检出率较高;基因诊断能够为遗传咨询、临床治疗和婚育指导提供有价值的基础资料,对优生优育、干预重型THal患儿的出生具有重要意义。

Objective To analyze the distribution of different types of α and β-Thalassemia（THal） gene mutation in suspected patients with THal in this area.Methods Single-tube multiplex-polymerase chain reaction assay and reverse dot blot assay were performed to detect the three commonest deletion type of α-THal gene and the 17 mutation loci of β-THal gene.Results In 481 cases of suspected patients with THal,29.5%（142/481） were with α-THal,of which the positive rate of--SEA/αα type,22.7%（109/481）,was the highest.The detection rate of β-THal was 23.9%（115/481）,and the frequency of gene mutation type CD41-42,IVS 2nt654,CD17 and-28 was 7.5%,5.0%,4.2% and 2.5%,respectively.3 cases were demonstrated with αβ complex THal.Conclusion The detection rate of αand β-THal might be relatively high in this area.Gene diagnosis could provide useful information for hereditary consultation,clinical therapy and procreative guidance,and might be worthy for prepotency and avoiding newborns with severe THal.