Literature DB >> 6278453

Two cloned beta thalassemia genes are associated with amber mutations at codon 39.

R Pergolizzi, R A Spritz, S Spence, M Goossens, Y W Kan, A Bank.   

Abstract

Two beta globin genes from patients with the beta(+) thalassemia phenotype have been cloned and sequenced. A single nucleotide change from CAG to TAG (an amber mutation) at codon 39 is the only difference from normal in both genes analyzed. The results are consistent with the assumption that both patients are doubly heterozygous for beta(+) and beta degrees thalassemia, and that we have isolated and analyzed the beta degrees thalassemia gene.

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Year:  1981        PMID： 6278453      PMCID： PMC327662          DOI： 10.1093/nar/9.24.7065

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  22 in total

1.  A general method for isolation of high molecular weight DNA from eukaryotes.

Authors:  N Blin; D W Stafford
Journal:  Nucleic Acids Res       Date:  1976-09       Impact factor: 16.971

2.  A new method for sequencing DNA.

Authors:  A M Maxam; W Gilbert
Journal:  Proc Natl Acad Sci U S A       Date:  1977-02       Impact factor: 11.205

3.  The structure of the human beta-globin gene in beta-thalassaemia.

Authors:  R A Flavell; R Bernards; J M Kooter; E de Boer; P F Little; G Annison; R Williamson
Journal:  Nucleic Acids Res       Date:  1979-06-25       Impact factor: 16.971

4.  A fast and simple method for sequencing DNA cloned in the single-stranded bacteriophage M13.

Authors:  P H Schreier; R Cortese
Journal:  J Mol Biol       Date:  1979-03-25       Impact factor: 5.469

5.  Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts.

Authors:  J G Mears; F Ramirez; D Leibowitz; A Bank
Journal:  Cell       Date:  1978-09       Impact factor: 41.582

6.  High capacity gel preparative electrophoresis for purification of fragments of genomic DNA.

Authors:  F Polsky; M H Edgell; J G Seidman; P Leder
Journal:  Anal Biochem       Date:  1978-07-01       Impact factor: 3.365

7.  The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA.

Authors:  R M Lawn; E F Fritsch; R C Parker; G Blake; T Maniatis
Journal:  Cell       Date:  1978-12       Impact factor: 41.582

8.  Disorders of human hemoglobin.

Authors:  A Bank; J G Mears; F Ramirez
Journal:  Science       Date:  1980-02-01       Impact factor: 47.728

9.  beta 0 thalassemia, a nonsense mutation in man.

Authors:  J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-06       Impact factor: 11.205

10.  Authentic beta-globin mRNA sequences in homozygous betaO-thalassemia.

Authors:  G F Temple; J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1977-07       Impact factor: 11.205
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  13 in total

1.  Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA.

Authors:  S Amselem; V Nunes; M Vidaud; X Estivill; C Wong; L d'Auriol; D Vidaud; F Galibert; M Baiget; M Goossens
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

Review 2.  Fifty years in human genetics--a career retrospective.

Authors:  Haig H Kazazian
Journal:  FASEB J       Date:  2017-09       Impact factor: 5.191

Review 3.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

4.  Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.

Authors:  C Dobkin; R G Pergolizzi; P Bahre; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1983-03       Impact factor: 11.205

5.  RNA processing errors in patients with beta-thalassemia.

Authors:  T J Ley; N P Anagnou; G Pepe; A W Nienhuis
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

6.  Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

Authors:  S J Baserga; E J Benz
Journal:  Proc Natl Acad Sci U S A       Date:  1988-04       Impact factor: 11.205

7.  alpha-Thalassemia caused by an unstable alpha-globin mutant.

Authors:  S A Liebhaber; Y W Kan
Journal:  J Clin Invest       Date:  1983-03       Impact factor: 14.808

8.  Four new haplotypes observed in Algerian beta-thalassemia patients.

Authors:  C Beldjord; C Lapouméroulie; M L Baird; R Girot; L Adjrad; G Lenoir; M Benabadji; D Labie
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  TET2 deficiency leads to stem cell factor-dependent clonal expansion of dysfunctional erythroid progenitors.

Authors:  Xiaoli Qu; Shijie Zhang; Shihui Wang; Yaomei Wang; Wei Li; Yumin Huang; Huizhi Zhao; Xiuyun Wu; Chao An; Xinhua Guo; John Hale; Jie Li; Christopher D Hillyer; Narla Mohandas; Jing Liu; Karina Yazdanbakhsh; Francesca Vinchi; Lixiang Chen; Qiaozhen Kang; Xiuli An
Journal:  Blood       Date:  2018-09-25       Impact factor: 22.113

10.  A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation.

Authors:  J C Chang; A Alberti; Y W Kan
Journal:  Nucleic Acids Res       Date:  1983-11-25       Impact factor: 16.971
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