应用长片段PCR技术检测α珠蛋白基因组织的异常  

Identification of α globin gene organization using long PCR

作　　者：陈美珏[1,2] 陈坚[1,2] 黄淑帧[1,2] 曾溢滔 

机构地区：[1]上海市儿童医院 [2]上海医学遗传研究所

出　　处：《中华血液学杂志》1997年第10期529-531,共3页Chinese Journal of Hematology

基　　金：卫生部科学基金;上海市卫生局青年科学基金

摘　　要：目的：应用长片段多聚酶链反应（ＰＣＲ）技术检测α珠蛋白基因组织的异常。方法：设计一组引物分别互补于α２珠蛋白基因上游和α１珠蛋白基因下游的特异序列，应用长片段ＰＣＲ技术对７例具有正常和异常α珠蛋白基因组织个体进行分析。结果：正常的α珠蛋白基因组织（αα）扩增片段的长度为６．４ｋｂ；右侧缺失型的α珠蛋白基因组织（α－３．７）为２．６ｋｂ；而东南亚缺失型的α珠蛋白基因组织（－－ＳＥＡ）则无任何扩增片段；右侧增多型的α珠蛋白基因组织（αααａｎｔｉ３．７）的扩增片段为１０．２ｋｂ。结论：长片段ＰＣＲ技术为α珠蛋白基因组织异常的快速检测提供了一个新的方法。Objective:To identify the abnormalities of α globin gene organization. Methods: Complementary DNAs to the sequences of the up stream of α2 globin gene and the down stream of α1 globin gene, respectively were designed as long PCR primers, DNA from 7 individuals with normal or abnormal α globin gene organizations were analyzed by long PCR procedure. Results: The normal α globin gene organization (αα) was identified to have a 6.4kb amplified fragment. The rightward type of α globin gene deletion (α -3.7 ) resulted in a 2.6kb amplified fragment; the Southeast Asia type of α globin gene deletion (-- SEA ) had no amplified fragment and α globin gene triplication (ααα anti3.7 ) showed a 10.2kb amplified fragment. Conclusion: Long PCR provides a new method for the rapid detection of the abnormalities of α globin gene organization.

关 键 词：Α地中海贫血 Α珠蛋白基因 基因诊断 PCR 

分 类 号：R556.610.4[医药卫生—血液循环系统疾病]