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β-珠蛋白基因终止密码子3'端非翻译区第96位的T→C突变是一种罕见的多态性，并不像之前认为的那样会导致β-地中海贫血。

The T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed.

作者信息

Divoky V, Baysal E, Oner R, Cürük M A, Walker E L, Indrak K, Huisman T H

机构信息

Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

出版信息

Hum Genet. 1994 Jan;93(1):77-8. doi: 10.1007/BF00218918.

DOI:10.1007/BF00218918
PMID:8270260
Abstract

We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convincing evidence that this mutation is a simple polymorphism.

摘要

我们在两个捷克家族和一个黑人家庭的成员中观察到，β-珠蛋白基因终止密码子3'端非翻译区第96位存在T→C突变。初步研究数据表明，这种变化是β地中海贫血的病因，但持续分析提供了令人信服的证据，证明这种突变是一种简单的多态性。

相似文献

1
The T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed.β-珠蛋白基因终止密码子3'端非翻译区第96位的T→C突变是一种罕见的多态性，并不像之前认为的那样会导致β-地中海贫血。
Hum Genet. 1994 Jan;93(1):77-8. doi: 10.1007/BF00218918.
2
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Haematologica. 2003 Oct;88(10):1191-3.
3
Double heterozygosity for the codon beta 39 C-to-T nonsense mutation and a triplicate alpha-globin gene locus can cause "dominantly" inherited beta-thalassemia intermedia.密码子β39 C到T无义突变与α-珠蛋白基因座三联体的双重杂合性可导致“显性”遗传的中间型β地中海贫血。
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Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).β-珠蛋白基因中的两个错义突变可导致严重的β地中海贫血。血红蛋白梅迪辛湖（β32[B14]亮氨酸→谷氨酰胺；98[FG5]缬氨酸→甲硫氨酸）。
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A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia.终止密码子下游3'端第6个核苷酸处的C→G突变可能是沉默β地中海贫血的病因。
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Co-existence of the codon 16 (-C) (beta(o)) and codon 10 (C --> A) (beta+) mutations on the same beta-globin gene.同一β-珠蛋白基因上密码子16（-C）（β⁰）和密码子10（C→A）（β⁺）突变的共存。
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本文引用的文献

1
beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.中国的β地中海贫血：体内RNA分析和寡核苷酸杂交在分子缺陷系统表征中的应用
Proc Natl Acad Sci U S A. 1984 May;81(9):2821-5. doi: 10.1073/pnas.81.9.2821.
2
Molecular characterization of beta-thalassemia in Czechoslovakia.捷克斯洛伐克β地中海贫血的分子特征
Hum Genet. 1992 Feb;88(4):399-404. doi: 10.1007/BF00215673.
3
Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia.
Hemoglobin. 1992;16(1-2):51-66. doi: 10.3109/03630269209005676.
4
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.β-珠蛋白基因5'和3'非编码区的两种新型β-地中海贫血突变。
Blood. 1992 Mar 1;79(5):1342-6.
5
The T----C substitution at nucleotide + 1570 of the beta-globin gene is a polymorphism.β-珠蛋白基因第1570位核苷酸处的T----C替换是一种多态性。
Blood. 1992 Sep 1;80(5):1365.