粤北地区地中海贫血检出率及基因分型的调查分析

Analysis of thalassemia gene type and the prevalence of thalassemia in Yue bei area

目的 了解粤北地区地中海贫血的发病情况及基因分型。方法 红细胞休克 -管定量法对所有受检人进行地贫筛查 ,对地贫筛查阳性的标本进一步采用PCR法进行α地贫 1基因检测 ,用PCR结合反向点杂交法 (RDB) ,进行 β地贫的基因检测。结果 在 10 10例受检者中 ,地贫筛查阳性的有 118例 ,占受检总人数的 11.6 %。地贫筛查阳性的所有标本均进行了α地贫 1基因检测 ,诊断为α地贫 1杂合子的有 6 9例 ,占受检总数的 6 .83% ,32例进行了 β地贫基因检测 ,其中 2 1例为 β地贫杂合子 ,占受检总数的 2 .1% ,其基因突变类型分别是 :CD4 1- 4 2 (-TTCT)突变 12例 ,IVS - 2 - 6 5 4 (C→T)突变 2例 ,- 2 8(A→G)突变 2例 ,CD17(A→T)突变 2例 ,71- 72 (+A)突变 2例 ,2 7- 2 8(+C)突变 1例。结论 粤北地区地中海贫血发生率较高 ,做好婚前及产前地贫筛查及产前基因诊断等工作 ,对避免重型地贫患儿的出生 ,具有重要意义。

Objective: To investigate the coincidental rate of thalassemia and gene type of thalassemia in YueBei area. Methods By using the 'red blood cell shock method', the positive cases were further by polymerase chain reaction (PCR) to detectα-thalassemia 1 gene. By using PCR with reverse dot blot hybridization (RDB) to confirm theirβ-thalassemia mutations. Results There are 69 of α-thalassemia heterozygotes (6.83%); 21 of β-thalassemia heterozygotes (2.1%). The mutant loci ofβ-thalassemia gene in these cases that 12 were in CD41-42(-TTCT), 2 in IVS-2-654(C→T), 2 in -28(A→G), 2 in CD17(A→T),2 in 71-72(+A), 1 in 27-28(+C). Conclusions The thalassemia trait is relatively frequent in YueBei area and it should be paid much attention to in prenatal diagnosis of thalassemia.