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撒丁岛δβ0地中海贫血中的β-珠蛋白基因在第39密码子处存在一个C→T无义突变。

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.

作者信息

Guida S, Giglioni B, Comi P, Ottolenghi S, Camaschella C, Saglio G

出版信息

EMBO J. 1984 Apr;3(4):785-7. doi: 10.1002/j.1460-2075.1984.tb01885.x.

DOI:10.1002/j.1460-2075.1984.tb01885.x
PMID:6327288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC557427/
Abstract

Sardinian delta beta 0-thalassemia is an inherited syndrome characterized by the inactivity of the beta-globin gene and the persistent activity of the fetal gamma-globin genes, particularly the A gamma-globin gene. Previous mapping studies with restriction enzymes failed to show any abnormality in the non-alpha globin gene cluster. We have now examined the possibility that this syndrome might result from a single rather than two different defects. Restriction enzyme polymorphisms linked to the delta beta 0-thalassemic non-alpha globin fragments were defined providing the basis for cloning the delta beta 0-thalassemic beta-globin gene from the DNA of a heterozygous patient. This gene appears to carry a C----T single mutation causing the appearance of a stop codon at amino acid position 39 of the beta-globin gene. This mutation was previously reported in beta 0-thalassemic patients, in linkage with different haplotypes. We conclude that Sardinian delta beta 0-thalassemia is the result of two separate mutations, the former one (unknown) responsible for persistent expression of gamma-globin genes, the latter for beta 0-thalassemia.

摘要

撒丁岛δβ0地中海贫血是一种遗传性综合征，其特征是β珠蛋白基因无活性，而胎儿γ珠蛋白基因持续有活性，尤其是Aγ珠蛋白基因。先前用限制性内切酶进行的图谱研究未能显示非α珠蛋白基因簇有任何异常。我们现在研究了这种综合征可能由单一而非两种不同缺陷导致的可能性。确定了与δβ0地中海贫血非α珠蛋白片段相关的限制性内切酶多态性，为从一名杂合患者的DNA中克隆δβ0地中海贫血β珠蛋白基因提供了基础。该基因似乎携带一个C→T单突变，导致β珠蛋白基因第39位氨基酸处出现一个终止密码子。先前在β0地中海贫血患者中报道过这种突变，与不同的单倍型连锁。我们得出结论，撒丁岛δβ0地中海贫血是两个独立突变的结果，前者（未知）导致γ珠蛋白基因持续表达，后者导致β0地中海贫血。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3409/557427/28f1bb51e9ad/emboj00308-0095-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3409/557427/c76dc4c3303c/emboj00308-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3409/557427/28f1bb51e9ad/emboj00308-0095-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3409/557427/c76dc4c3303c/emboj00308-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3409/557427/28f1bb51e9ad/emboj00308-0095-b.jpg

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1
The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.撒丁岛δβ0地中海贫血中的β-珠蛋白基因在第39密码子处存在一个C→T无义突变。
EMBO J. 1984 Apr;3(4):785-7. doi: 10.1002/j.1460-2075.1984.tb01885.x.
2
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"Silent" nucleotide substitution in codon 24 of a beta+ thalassemia globin gene activates splice site in coding sequence RNA.β+地中海贫血球蛋白基因第24密码子处的“沉默”核苷酸替换激活了编码序列RNA中的剪接位点。
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Initiation codon mutation as a cause of alpha thalassemia.起始密码子突变作为α地中海贫血的一个病因
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引用本文的文献

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A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.一个患有希腊型胎儿血红蛋白遗传性持续存在症和β地中海贫血症的家族的分子研究。
EMBO J. 1984 Nov;3(11):2641-5. doi: 10.1002/j.1460-2075.1984.tb02187.x.
2
The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population.在一个撒丁岛人群中，9条不同的β地中海贫血染色体上存在相同的β珠蛋白基因突变。
Proc Natl Acad Sci U S A. 1987 May;84(9):2882-5. doi: 10.1073/pnas.84.9.2882.
3
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.

本文引用的文献

1
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IN GREECE. A STUDY AND A COMPARISON.希腊胎儿血红蛋白的遗传性持续存在。一项研究与比较。
Blood. 1964 Sep;24:223-40.
2
Major rearrangement in the human beta-globin gene cluster.人类β-珠蛋白基因簇中的重大重排。
Nature. 1981 May 7;291(5810):39-44. doi: 10.1038/291039a0.
3
Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.通过与合成寡核苷酸杂交检测镰状细胞βS-珠蛋白等位基因。
撒丁岛北部常见的胎儿血红蛋白 Aγ遗传性持续存在：其分子基础以及杂合子和β地中海贫血复合杂合子的血液学表型
Hum Genet. 1988 May;79(1):13-7. doi: 10.1007/BF00291702.
4
Analyses of linked beta-globin genes suggest that nondeletion forms of hereditary persistence of fetal hemoglobin are bona fide switching mutants.对连锁β-珠蛋白基因的分析表明，胎儿血红蛋白遗传性持续存在的非缺失形式是真正的转换突变体。
Am J Hum Genet. 1988 Mar;42(3):476-81.
Proc Natl Acad Sci U S A. 1983 Jan;80(1):278-82. doi: 10.1073/pnas.80.1.278.
4
beta zero thalassemia in Sardinia is caused by a nonsense mutation.撒丁岛的β0地中海贫血是由一种无义突变引起的。
J Clin Invest. 1981 Oct;68(4):1012-7. doi: 10.1172/jci110323.
5
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.人类β-珠蛋白基因簇中β-地中海贫血突变及β-珠蛋白基因多态性与DNA多态性的连锁关系
Nature. 1982 Apr 15;296(5858):627-31. doi: 10.1038/296627a0.
6
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.β-珠蛋白基因簇中多态性限制性位点的非随机关联。
Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
7
Structure and expression of a cloned beta o thalassaemic globin gene.一个克隆的β地中海贫血球蛋白基因的结构与表达
Nucleic Acids Res. 1981 Sep 11;9(17):4391-401. doi: 10.1093/nar/9.17.4391.
8
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.β⁺地中海贫血人类珠蛋白基因间隔序列中的碱基置换。
Proc Natl Acad Sci U S A. 1981 Apr;78(4):2455-9. doi: 10.1073/pnas.78.4.2455.
9
An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.克隆的β +-地中海贫血球蛋白基因中的内含子核苷酸序列变异体。
Nucleic Acids Res. 1981 Apr 24;9(8):1777-88. doi: 10.1093/nar/9.8.1777.
10
Sequencing end-labeled DNA with base-specific chemical cleavages.通过碱基特异性化学切割对末端标记的DNA进行测序。
Methods Enzymol. 1980;65(1):499-560. doi: 10.1016/s0076-6879(80)65059-9.