New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
复制标题
β-地中海贫血基因的新琥珀突变，体内突变信使 RNA 水平不可测量。
DOI：
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发表时间：
1988
影响因子：
15.9
通讯作者：
B. Forget
中科院分区：
文献类型：
--
作者：
G. Atweh;H. Brickner;Xiao;H. Kazazian;B. Forget
We have identified a beta-thalassemia gene that carries a novel nonsense mutation in a Chinese patient. This mutation, a G to T substitution at the first position of codon 43, changes the glutamic acid coding triplet (GAG) to a terminator codon (TAG). Based on oligonucleotide hybridization studies of 78 Chinese and Southeast Asian beta-thalassemia chromosomes, we estimate that this mutation accounts for a small minority of the beta-thalassemia mutations in that population. Study of the expression of this cloned gene in a transient expression system demonstrated a 65% decrease in levels of normally spliced mutant beta-globin mRNA. However, the study of reticulocyte RNA isolated from an individual heterozygous for this mutation demonstrated a total absence of this mutant mRNA in vivo. The basis for this big discrepancy between the level of accumulated mRNA in vivo and in vitro is probably the result of differences in the stabilities of the mutant mRNA in erythroid cells.
一种检测和表征转录基因点突变的方法：人类肿瘤细胞中突变 c-Ki-ras 等位基因的扩增和过度表达。
DOI：
10.1073/pnas.82.22.7575
发表时间：
1985
影响因子：
11.1
作者：
Winter,E;Yamamoto,F;Almoguera,C;Perucho,M
通讯作者：
Perucho,M
环状和线性猿猴病毒 40 DNA 在重组方面有所不同。
影响因子：
5.3
作者：
Dorsett,D;Deichaite,I;Winocour,E
通讯作者：
Winocour,E