5042例地中海贫血高风险儿童β-地中海贫血基因分析

Analysis of β-thalassemia Gene in 5042 high-risk thalassemia children in Guangzhou

目的了解广州地区地中海贫血(地贫)高风险儿童β-地贫的检出率及基因型构成情况,为制定广州地区β-地贫防治策略、有效降低β-地贫的发病率提供参考。方法应用双重PCR结合反向斑点杂交技术(reverse dot blot,RDB),对广州地区的5042例地贫高风险患儿进行β-地贫8种常见和9种稀少的突变位点进行基冈分析。结果在5042例受检者中,共检出β-地贫患儿1507例,约为受检者的29.89%,涉及13种突变类型。其中CDs41-42(-TCTT)、IVS-Ⅱ-654(C→T)、CD17(A→T)、-28(A→G)、CD71-72(+A)、CD26(G→A)、CD43(G→T)是广州地区最主要的7种β-地贫基因突变类型,分别占42.09%、26.01%、12.63%、10.42%、2.97%、2%、1.02%,这7种突变占全部检出突变的97.14%。纯合子109例(7.23%),双重杂合子237例(15.73%)。结论广州地区地贫高风险患儿具有较高的β-地贫突变基因检出率,制定切实有效的地贫防治策略对于减少β-地贫纯合子和双重杂合子的出生率,提高广州地区的人口素质十分重要。

Objective To understand the detection rate and gene distribution of β-thalassemia in high-risk thalassemia children in Guangzhou,which will contribute to provention,tharapy and reduction of incidence of β-thalassemia in Guangzhou.Methods 8 kinds of common gene mutations and nine kinds of rare gene mutations of β-thalassemia were assayed by double PCR with reverse dot blot hybridization in 5042 high-risk thalassemia children in Guangzhou.Results 1507 β-thalassemia cases were detected in 5042 cases（1507/5042,29.89%）,involving 13 kinds of gene mutations.The most important 7 kinds of β-thalassemia gene mutations in Guangzhou were CDs41-42（-TCTT）,IVS-Ⅱ-654（C→T）,CD17（A→T）,-28（A→G）,CD71-72（＋A）,CD26（G→A） and CD43（G→T）,which accounting for 42.09%,26.01%,12.63%,10.42%,2.97%,2% and 1.02%,respectively.These 7 kinds of gene mutations contributed to 97.14% of total mutations detected.109 cases of homozygote（109/1507,7.23%） and 237 cases of double heterozygote（237/1507,15.73%） were dectected.Conclusion In Guangzhou,high-risk thalassemia children have a high detection rate of β-thalassemia gene mutation.It is important to formulate effective strategies for proventing and controlling the birth rate of β-thalassemia homozygotes and double heterozygotes to improve the population quality of Guangzhou.