Literature DB >> 6826539

Structural analysis of a beta-thalassemia gene found in Taiwan.

A Kimura, E Matsunaga, Y Takihara, T Nakamura, Y Takagi, S Lin, H Lee.   

Abstract

The beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms.

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Year:  1983        PMID： 6826539

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  17 in total

1.  Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Authors:  M Krawczak; D N Cooper
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.

Authors:  B G Schach; S Yoshitake; E W Davie
Journal:  J Clin Invest       Date:  1987-10       Impact factor: 14.808

3.  CRISPR/Cas9-mediated gene editing in human zygotes using Cas9 protein.

Authors:  Lichun Tang; Yanting Zeng; Hongzi Du; Mengmeng Gong; Jin Peng; Buxi Zhang; Ming Lei; Fang Zhao; Weihua Wang; Xiaowei Li; Jianqiao Liu
Journal:  Mol Genet Genomics       Date:  2017-03-01       Impact factor: 3.291

4.  The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.

Authors:  S Huang; C Wong; S E Antonarakis; T Ro-lien; W H Lo; H H Kazazian
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

5.  Distribution of beta-thalassemia mutations in south China and their association with haplotypes.

Authors:  V Chan; T K Chan; F F Chebab; D Todd
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

Review 6.  DNA polymorphism and molecular pathology of the human globin gene clusters.

Authors:  S E Antonarakis; H H Kazazian; S H Orkin
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.

Authors:  G F Atweh; N P Anagnou; J Shearin; B G Forget; R E Kaufman
Journal:  Nucleic Acids Res       Date:  1985-02-11       Impact factor: 16.971

8.  Transcription activator-like effector nuclease (TALEN)-mediated gene correction in integration-free β-thalassemia induced pluripotent stem cells.

Authors:  Ning Ma; Baojian Liao; Hui Zhang; Linli Wang; Yongli Shan; Yanting Xue; Ke Huang; Shubin Chen; Xiaoxiao Zhou; Yang Chen; Duanqing Pei; Guangjin Pan
Journal:  J Biol Chem       Date:  2013-10-23       Impact factor: 5.157

9.  Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Authors:  Y Hidaka; T D Palella; T E O'Toole; S A Tarlé; W N Kelley
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

10.  beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

Authors:  T C Cheng; S H Orkin; S E Antonarakis; M J Potter; J P Sexton; A F Markham; P J Giardina; A Li; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205
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