一种新的β－地中海贫血基因──密码子37无义突变  

A NOVEL NONSENSE MUTATION IN A β-THALASSEMIA GENE:β￣(37)TGG→TAG

作　　者：徐湘民[1] 廖灿[1] 刘忠英[1] 李坚[1] 彭朝晖[1] 邱洛琳[1] 张基增 

机构地区：[1]第一军区大学分子生物学研究所,广州市妇婴医院遗传室

出　　处：《中华医学遗传学杂志》1996年第4期216-218,共3页Chinese Journal of Medical Genetics

基　　金：军队"八.五"重点基金;广东省自然科学基金

摘　　要：为进一步调查我国南方β－地中海贫血（β－地贫）的分子病理学基础，运用ＰＣＲ产物直接ＤＮＡ序列分析法在１例表型阳性的β－地贫病例中，发现１种未见报道的β－地贫基因──β－珠蛋白基因密码子３７无义突变（β３７ＴＧＧ→ＴＡＧ）。该突变被寡核苷酸探针杂交法和ＰＣＲ产物酶谱分析法进一步证实。这一新发现有助于指导我国南方开展β－地贫的遗传咨询和产前诊断。For further investigating the molecular basis of β-thalassemia in Chinese patients,we performed amplification of β-globin gene by PCR and direct genomic sequencing on an unknown DNA sample that was not characterized by reverse dot blot(RDB)hybridization screening for 18 types of Chinese β-thalassemia mutations.A novel nonsense mutation,a G to A substitution at the second position of codon 37 in the β-globin gene that changes the tryptophan coding triplet(TGG)to a termination ctalon(TAG)was found in this patient.The result was verified by allele-specific oligonucleotide hybridization and by direct mapping tha restriction fragments in amplified genomic DNA.The discovery of this new nonsense mutation should be of use for the genetic counselling and prenatal diagnosis program for Chinese couples at risk.

关 键 词：Β-地中海贫血 Β-珠蛋白 基因 密码子 无义突变 

分 类 号：R556.610.2[医药卫生—血液循环系统疾病]