中国人α珠蛋白基因-α^(3.7)缺失亚型的研究  

Detection and Analysis of the Subtypes of α3.7 in Chinese

作　　者：陈素琴[1] 李洪义[1] 陈争[1] 段山[1] 陈路明[1] 田秋红[1] 杜传书[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广州510089

出　　处：《遗传》2003年第6期649-651,共3页Hereditas（Beijing)

基　　金：卫生部科研基金资助项目(94-1-103)~~

摘　　要：- α3.7是中国人常见的缺失型α 地中海贫血 2。根据重组位点的不同, α3.7可分为 -α3.7Ⅰ型、 -α3.7Ⅱ型和 α3.7Ⅲ型,并且亚型的种类和频率具有种族差异性。本研究在中国人群中用PCR基因分析方法检出具有α珠蛋白基因 -α3.7缺失的患者56例,然后用ApalⅠ和BalⅠ限制性内切酶进行分型。结果表明,在这56例具有 -α3.7缺失的患者中,有54例是 -α3.7Ⅰ型,有2例是 -α3.7Ⅱ型,尚未发现 -α3.7Ⅲ型。此结果丰富了我国α地贫基因型谱的资料。α3.7 is a common deletional α-thalassemia-2 in China.According to different recombination sites, -α3.7 can be divided into -α~3.7Ⅰ?-α~3.7Ⅱ and -α~3.7Ⅲ .The frequency and population distribution of these -α~3.7 are quite different.In this study,we detected 56 patients among Chinese population of -α~3.7 defect in alpha globin gene by PCR method,then the PCR product was digested by the restriction enzyme Apa lⅠand Bal Ⅰ.The sub-typing result shows that in the 56 cases of -α~3.7 defect,54 out of 56 is -α~3.7Ⅰ ,2 out of 56 is -α~3.7Ⅱ and none of -α~3.7Ⅲ is detected.This result enriches the data about the alpha thalassemia genotypes of Chinese people.

关 键 词：中国人 Α珠蛋白基因 缺失亚型 Α地中海贫血 

分 类 号：R556.61[医药卫生—血液循环系统疾病]