摘要
目的 揭示江西地区 β地中海贫血基因突变类型及其结构比。 方法 用聚合酶链反应 -反向斑点杂交技术检出 β地贫点突变。并比较几种常见的基因型 6 5 4 / 4 1 4 2、6 5 4 / 6 5 4、- 2 8/ 6 5 4、2 7 2 8/ 6 5 4、17/ 6 5 4、4 1 4 2 / 4 1- 4 2、17/ 4 1 4 2、- 2 8/ 4 1 4 2与其临床表型之间的关系。结果 江西地区 β地贫基因突变类型及结构比为IVS -Ⅱ 6 5 4 (C→T)为 4 1.78%、CD4 1- 4 2 (-TCTT)为 2 8.36 %、TATAbox 2 8(A→G)为 10 .4 5 %、CD17(A→T)为 9.7%、CD2 7 2 8(+C)为5 .2 2 %、CD4 3(G→T)为 1.4 9%、TATAbox 2 9(A→T)为 1.4 9%、CD71 72 (+A)为 1.4 9% .- 2 8/ 6 5 4发病年龄最晚 ,为11.33± 7.83个月明显晚于基因型 4 1 4 2 / 6 5 4、17/ 6 5 4发病年龄。 - 2 8/ 4 1 4 2基因型血红蛋白值为 86 .0 0± 6 .0 0 ,明显高于其他基因类型 (P <0 .0 1) ,而HbA2 、HbF在不同基因型无显著差别 (P >0 .0 5 )。结论 江西地区 β地中海贫血以IVS Ⅱ 6 5 4 (C→T)、CD4 1 4 2 (-TCTT)突变为主 ,两者之和达 70 .15 %。不同的基因型 β地中海贫血患儿的发病年龄有所不同 ,不同基因型的血红蛋白值有所不同 ,而HbA2
Objective To explore the characteristics and the different percent of mutation βthelassemia in Jiangxi area,and the correlation different genotypes(654/41-42,654/654,-28/654,27-28/654,17/654,41-42/41-42、17/41-42,-28/41-42) and their clinical features as well.Methods The dot mutation of β-thelassemia was screened by polymerase chain reaction-reverse dot blot.Results β-thelassemia mutation in jiangxi area were IVS-Ⅱ654(C→T)41.78%、CD41-42(-TCTT)28.36%、TATAbox-28(A→G) 10.45%、CD17(A→T) 9.7%、CD 27-28(+C) 5.22% 、CD43(G→T) 1.49%、TATAbox-29(A→T)1.49%、CD71-72(+A)1.49%, respectively. The onset age in -28/654 was 11.33±7.83 Ms.It was older than the onset age in 41-42/654 and 17/654 genotypes. The value of hemoglobin(86.00±6.00)in -28/41-42 genotype was much higher than that of other genotypes. The were not significant difference of HbA 2 and HbF in different genotypes.Conclusion The major mutation types of β-thalassemia in Jiangxi area were IVS-Ⅱ654(C→T)and CD41-42(-TCTT)with 70.15% of the two mutation types was.There were different onset ages and different values of hemoglobin in different genotypes of β-thalassemia. But there ware not significant difference of HbA 2 and HbF in different genotypes.
出处
《江西医学院学报》
2004年第5期52-54,共3页
Acta Academiae Medicinae Jiangxi
