海南省汉族人群中6种β-地中海贫血基因突变的研究

目的:研究海南省汉族人群的β-地中海贫血的分子基础。方法:应用等位基因特异性聚合酶链反应(PCR)技术筛查海南省汉族人群中的6种β-地中海贫血突变类型:CD41-42(-CTTT)缺失突变、IVSII654(C→T)突变、CD17(A→T)无义突变、TATA盒nt-28(A→G)突变、CD71-72(+A)移码突变和CD26(G→A)突变。结果:在675人中发现17例β-地中海贫血携带者,携带率为2.52%,其中CD41-42(-CTTT)缺失突变杂合子9例(携带率为1.33%);IVSII654(C→T)突变杂合子5例(携带率为0.74%);TATA盒nt-28(A→G)突变杂合子2例(携带率为0.30%);CD71-72(+A)移码突变杂合子1例(携带率为0.15%);未检出CD17(A→T)无义突变和CD26(G→A)突变2种突变类型。结论:海南汉族人群是β-地中海贫血的高发群体,其基因突变类型主要以CD41-42(-CTTT)缺失突变、IVSII654(C→T)突变、TATA盒nt-28(A→G)突变和CD71-72(+A)移码突变4种突变类型常见。

INVESTIGATION OF SIX TYPES β-THALASSEMIA MUTATION IN HAN NATIONALITY OF HAINAN PROVINCE

Objective: To investigate the molecular basis of β-thalassemia mutation in Han nationality of Hainan province. Methods: Allele-specific polymerase chain reaction was used to detect CD41-42(-CTTT)?IVSII654(C→T)?CD17(A→T)?TATA box nt-28(A→G )?CD71-72(+A)and CD26(G→A)mutations in Han nationality of Hainan province. Results: 17 of 675 Han nationality people were found to be the carriers of β-thalassemia - and the frequency was 2.52 %.There were 9 cases of CD41-42(-CTTT)mutation heterozygous (the frequency was 1.33 %),5 cases of IVSII654(C→T)mutation heterozygous (the frequency was 0.74 %),2 cases of TATA box nt-28(A→G )mutation heterozygous (the frequency was 0.30 %),and 1 cases of CD71-72(+A)mutation heterozygous (the frequency was 0.15 %)among them. No CD17(A→T)and CD26(G→A)mutations carriers were detected. Conclusion: There is a high incidence of β-thalassemia in Han nationality of Hainan province. The main genetic mutation types of β-thalassemia are CD41-42(-CTTT)?IVSII654(C→T)?TATA box nt-28(A→G )and CD71-72(+A)in Han nationality of Hainan province.