聚合酶链反应技术在β－地中海贫血基因诊断中的应用

Using PCR technique to make genomic diagnosis of β-thalasimia

从云南省德宏州、西双版纳州、玉溪地区和昆明地区采集临床诊断为β－地中海贫血的病例２４例，经提取ＤＮＡ，聚合酶链反应和非同位素（加强化学发光，ＥＣＬ）标记寡核苷酸探针点杂交进行基因诊断。文献报道β－地中海贫血的基因突变主要有十种类型。本组在已完成杂文的病例中最常见的突变为Ｃｏｄｏｎｓ４１－４２，即编码子４１－４２发生框架位移，减少ＴＴＣＴ四个碱基，这与国内广东、四川的研究相似。

cases ofβ-thalassemia from Dehong,Xishuangbanna,Yuxi,Kunming and other regions werestudied using metheds of DNA extraction,polymerase chain reaction(PCR)amplication and non-radio labelling oligonucleotide(ASO)prob dotblot hyrization technique to make genomic diagnosis.There are mainly ten different point mutations and framesshifts observed among China.In this group,the commonest mutation is the frameshift at codon 41-42 and lose 4 bases of TTCT,the data are very similar to those of other investigators in Guangdong and Sichuan.