β-地中海贫血杂合子携带α-地中海贫血1基因发生率  

The Incidence of β-thalassemia Heterozygote Carrying α-thalassemia-1 Gene

作　　者：韩俊英[1] 曾瑞萍[1] 胡彬[1] 

机构地区：[1]中山医科大学遗传教研室,广东广州510089

出　　处：《中山医科大学学报》2001年第1期11-13,共3页Academic Journal of Sun Yat-sen University of Medical Sciences

基　　金：广东省"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】研究广东地区人群中 β 地中海贫血 (β 地贫 )杂合子携带α 地中海贫血 (α 地贫 ) 1基因的发生率。【方法】采用反向点杂交法检测 β 地贫基因。采用跨越缺失区断裂点PCR法检测α 地贫 1基因。【结果】在 5 0 0例 β 地贫杂合子DNA标本中 ,共检出 43例合并α 地贫 1,检出率为 8.6 %。【结论】广东地区 β 地贫杂合子中合并α 地贫 1的发生率为 8.6 % ,在遗传咨询和产前诊断过程中需要引起重视。Objective To investigate the incidence of β thalassemia (β thal) heterozygote carrying α thalassemia (α thal) 1 gene in Guangdong area. Methods β thal genes were screened by reverse dot blotting (RDB). In β thal DNA samples α thal 1 genes were amplified using gap PCR method. Results 43α thal 1 cases were identified among the 500 β thal traits. The rate is 8.6%. Conclusion In Guangdong area the incidence ofβ thal heterozygote carrying α thal 1 gene is 8.6%, which should be paid much attention in the genetic counselling and prenatal diagnosis.

关 键 词：A-地中海贫血 遗传学 Β-地中海贫血 杂合子 聚合酶链反应 

分 类 号：R556.610.4[医药卫生—血液循环系统疾病]