广东地区β地中海贫血复合缺失型α地中海贫血双重杂合子检出率  

The prevalence of β-thalassemia heterozygotes compound α-thalassemia in Guangdong district

作　　者：韩俊英[1] 曾瑞萍[1] 胡彬[1] 

机构地区：[1]中山医科大学遗传学教研室,广州510089

出　　处：《中华血液学杂志》2001年第10期514-516,共3页Chinese Journal of Hematology

基　　金：广东省卫生厅"五个一"重点科研基金资助项目(5 2 2 2 0 2 0 0 9)

摘　　要：目的　研究广东地区β地中海贫血 (地贫 )杂合子复合α地贫双重杂合子的检出率。 方法　采用反向点杂交法 (RDB)诊断 β地贫杂合子 5 0 0例并进一步采用Gap PCR法进行α地贫 1基因检测 ,用α珠蛋白基因探针Southern印迹杂交限制性核酸内切酶酶谱分析法对其中 40 0例 β地贫杂合子进行缺失型α地贫 2基因检测。结果　在 5 0 0例 β地贫杂合子中 ,查出 43例合并α地贫 1(αα/- - SEA) ,40 0例β地贫杂合子中有 2 6例合并α地贫 2 ,其中 17例为右侧缺失 (αα/ -α3 .7) ,9例为左侧缺失 (αα/ -α4 .2 )。结论　广东地区 β地贫杂合子复合α地贫 1的检出率为 8.6 % ,复合α地贫 2的检出率为 6 .5 % ,其中复合右侧缺失型α地贫 2的检出率为 4.2 % ,复合左侧缺失型α地贫 2的检出率为2 2 %Objective To investigate the prevalence of β thalassemia (β thal) heterozygotes compound α thal in Guangdong area. Methods α thal 1 genes were amplified in 500 β thal carriers diagnosed by reverse dot blotting (RDB) using gap PCR method, α thal 2 genes were detected in 400 of the 500 β thal carriers using Southern blotting with α globin DNA probe and restrict endonuclease zymogram analytical method. Results Forty three α thal 1(αα/-- SEA ) cases were identified in the 500 β thal traits,and 26 α thal 2 including 17 rightward deletion(αα/-α 3.7 ) and 9 leftward deletion(αα/-α 4.2 )cases were identified in the 400 β thal traits. Conclusion The prevalence of β thal heterozygote carrying α thal 1 gene was 8.6% and that of β thal heterozygote carrying α thal 2 gene was 6.5% (4.2% rightward deletion and 2.2% leftward deletion).

关 键 词：Α地中海贫血 Β地中海贫血 聚合酶链反应 DNA印迹法 双重杂合子 检出率 广东 

分 类 号：R556.61[医药卫生—血液循环系统疾病]