中国人α珠蛋白基因-α3.7缺失亚型的研究 |
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作者姓名: | 陈素琴 李洪义 陈争 段山 陈路明 田秋红 杜传书 |
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作者单位: | 中山大学中山医学院医学遗传学教研室,广州 510089Department of Medical Genetics,Zhongshan Medical College,SunYat-sen University,Guangzhou 510089,China |
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基金项目: | 卫生部科研基金资助项目(94-1-103)~~ |
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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。Abstract:-α3.7 is a common deletional α-thalassemia-2 in China.According to different recombination sites,-α3.7 can be divided into -α3.7Ⅰ、-α3.7Ⅱand -α3.7Ⅲ.The frequency and population distribution of these -α3.7 are quite different.In this study,we detected 56 patients among Chinese population of -α3.7 defect in alpha globin gene by PCR method,then the PCR product was digested by the restriction enzyme ApalⅠand BalⅠ.The sub-typing result shows that in the 56 cases of -α3.7 defect,54 out of 56 is -α3.7Ⅰ,2 out of 56 is -α3.7Ⅱ and none of -α3.7Ⅲ is detected.This result enriches the data about the alpha thalassemia genotypes of Chinese people.
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关 键 词: | α珠蛋白基因 α地中海贫血 α-thalassemia α-globin gene -α3.7 Key words |
文章编号: | 0253-9772(2003)06-0649-03 |
修稿时间: | 2002-11-18 |
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