Literature DB >> 6278449

Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia.

R W Jones, J M Old, R J Trent, J B Clegg, D J Weatherall.   

Abstract

DNA from individuals heterozygous for (G)gamma(deltabeta)(o) thalassaemia has been studied by restriction endonuclease analysis. The results reveal a new molecular defect associated with this condition. A total of three defects is now responsible for the one single phenotype, thereby emphasising the complex relationship between genotype and phenotype among the disorders of beta-like globin synthesis in man.

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Year:  1981        PMID： 6278449      PMCID： PMC327644          DOI： 10.1093/nar/9.24.6813

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


  27 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  A direct estimate of the number of human gamma-globin genes.

Authors:  J Old; J B Clegg; D J Weatherall; S Ottolenghi; P Comi; B Giglioni; J Mitchell; P Tolstoshev; R Williamson
Journal:  Cell       Date:  1976-05       Impact factor: 41.582

3.  Enhanced autoradiographic detection of 32P and 125I using intensifying screens and hypersensitized film.

Authors:  R A Laskey; A D Mills
Journal:  FEBS Lett       Date:  1977-10-15       Impact factor: 4.124

4.  The present status of the heterogeneity of fetal hemoglobin in beta-thalassemia: an attempt to unify some observations in thalassemia and related conditions.

Authors:  T H Huisman; W A Schroeder; G D Efremov; H Duma; B Mladenovski; C B Hyman; E A Rachmilewitz; N Bouver; A Miller; A Brodie; J R Shelton; J B Shelton; G Apell
Journal:  Ann N Y Acad Sci       Date:  1974       Impact factor: 5.691

5.  Delta-beta-thalassaemia in a Chinese family.

Authors:  J R Mann; A S MacNeish; D Bannister; J B Clegg; W G Wood; D J Weatherall
Journal:  Br J Haematol       Date:  1972-10       Impact factor: 6.998

6.  Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.

Authors:  R A Flavell; J M Kooter; E De Boer; P F Little; R Williamson
Journal:  Cell       Date:  1978-09       Impact factor: 41.582

7.  Isolation of high-molecular-weight DNA from mammalian cells.

Authors:  M Gross-Bellard; P Oudet; P Chambon
Journal:  Eur J Biochem       Date:  1973-07-02

8.  Insertion of synthetic copies of human globin genes into bacterial plasmids.

Authors:  J T Wilson; L B Wilson; J K deRiel; L Villa-komaroff; A Efstratiadis; B G Forget; S M Weissman
Journal:  Nucleic Acids Res       Date:  1978-02       Impact factor: 16.971

9.  Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders.

Authors:  J G Mears; F Ramirez; D Leibowitz; F Nakamura; A Bloom; F Konotey-Ahulu; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1978-03       Impact factor: 11.205

10.  Nucleotide sequence of the rightward operator of phage lambda.

Authors:  T Maniatis; A Jeffrey; D G Kleid
Journal:  Proc Natl Acad Sci U S A       Date:  1975-03       Impact factor: 11.205
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  9 in total

1.  A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.

Authors:  D L Mager; P S Henthorn; O Smithies
Journal:  Nucleic Acids Res       Date:  1985-09-25       Impact factor: 16.971

2.  Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.

Authors:  D Tuan; E Feingold; M Newman; S M Weissman; B G Forget
Journal:  Proc Natl Acad Sci U S A       Date:  1983-11       Impact factor: 11.205

Review 3.  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

Review 4.  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

5.  Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression.

Authors:  R Calzolari; T McMorrow; N Yannoutsos; A Langeveld; F Grosveld
Journal:  EMBO J       Date:  1999-02-15       Impact factor: 11.598

6.  Identification of a retrovirus-like repetitive element in human DNA.

Authors:  D L Mager; P S Henthorn
Journal:  Proc Natl Acad Sci U S A       Date:  1984-12       Impact factor: 11.205

7.  Analysis of an inversion within the human beta globin gene cluster.

Authors:  M W Jennings; R W Jones; W G Wood; D J Weatherall
Journal:  Nucleic Acids Res       Date:  1985-04-25       Impact factor: 16.971

8.  Molecular characterization of a novel form of (A gamma delta beta)zero-thalassemia deletion with a 3' breakpoint close to those of HPFH-3 and HPFH-4: insights for a common regulatory mechanism.

Authors:  N P Anagnou; T Papayannopoulou; A W Nienhuis; G Stamatoyannopoulos
Journal:  Nucleic Acids Res       Date:  1988-07-11       Impact factor: 16.971

9.  The prevalence and molecular characterization of (δβ)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population.

Authors:  Sheng He; Yuan Wei; Li Lin; Qiuli Chen; Shang Yi; Yangjin Zuo; Hongwei Wei; Chenguang Zheng; Biyan Chen; XiaoXia Qiu
Journal:  J Clin Lab Anal       Date:  2017-08-01       Impact factor: 2.352
  9 in total

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