Literature DB >> 2986746

Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an AluI repeat.

R D Nicholls, D R Higgs, J B Clegg, D J Weatherall.   

Abstract

A form of alpha zero-thalassemia found in subjects of Mediterranean origin has been analyzed by gene mapping and DNA sequencing. Homozygotes have the hemoglobin Bart's hydrops fetalis syndrome, while compound heterozygotes for this defect and alpha+-thalassemia have hemoglobin H disease. It results from a deletion that removes 20.5 kilobases of DNA from within the alpha-globin gene cluster. Sequence data from the regions adjacent to the breakpoint indicate that the recombination event that caused this deletion occurred between the alpha 1-gene and an unusual AluI sequence located between the embryonic zeta genes.

Entities:  

Mesh：

Substances：

Year:  1985        PMID： 2986746

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  10 in total

1.  Alpha-thalassemia haplotypes in the Algerian population.

Authors:  T Henni; F Morlé; B Lopez; P Colonna; J Godet
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

2.  A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction.

Authors:  P Fortina; K Delgrosso; E Rappaport; M Poncz; S K Ballas; E Schwartz; S Surrey
Journal:  Nucleic Acids Res       Date:  1988-12-09       Impact factor: 16.971

3.  Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes.

Authors:  A Di Rienzo; A Novelletto; M C Aliquò; I Bianco; A Tagarelli; C Brancati; B Colombo; L Felicetti
Journal:  Am J Hum Genet       Date:  1986-11       Impact factor: 11.025

4.  High resolution gene mapping of the human alpha globin locus.

Authors:  R D Nicholls; J A Jonasson; J O McGee; S Patil; V V Ionasescu; D J Weatherall; D R Higgs
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

5.  Molecular basis of human growth hormone gene deletions.

Authors:  C L Vnencak-Jones; J A Phillips; E Y Chen; P H Seeburg
Journal:  Proc Natl Acad Sci U S A       Date:  1988-08       Impact factor: 11.205

6.  The levels of zeta, gamma, and delta chains in patients with Hb H disease.

Authors:  F Kutlar; J M Gonzalez-Redondo; A Kutlar; A Gurgey; C Altay; G D Efremov; K Kleman; T H Huisman
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

7.  Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.

Authors:  L Romao; F Cash; I Weiss; S Liebhaber; M Pirastu; R Galanello; A Loi; E Paglietti; P Ioannou; A Cao
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

8.  An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

Authors:  P Moi; F E Cash; S A Liebhaber; A Cao; M Pirastu
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

9.  Compilation of DNA strand exchange sites for non-homologous recombination in somatic cells.

Authors:  A K Konopka
Journal:  Nucleic Acids Res       Date:  1988-03-11       Impact factor: 16.971

10.  Correction to: Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR.

Authors:  Runa M Grimholt; Petter Urdal; Olav Klingenberg; Armin P Piehler
Journal:  BMC Hematol       Date:  2019-10-31
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.