mRNA缺陷型β地中海贫血由单个核苷酸缺失引起。
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
作者信息
Kinniburgh A J, Maquat L E, Schedl T, Rachmilewitz E, Ross J
出版信息
Nucleic Acids Res. 1982 Sep 25;10(18):5421-7. doi: 10.1093/nar/10.18.5421.
The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the beta-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.
对一名mRNA缺陷型β⁰地中海贫血患者的β-珠蛋白基因进行了测序。我们发现在氨基酸密码子44处有一个单核苷酸缺失，该缺失在密码子60处产生了一个UGA终止密码子。我们之前已经表明，该患者的β-珠蛋白mRNA剪接和聚腺苷酸化正确，但半衰期不到30分钟，周转迅速。我们认为，mRNA的快速周转受到这个单核苷酸缺失以及无义密码子的影响。
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