Literature DB >> 6327661

Detection of a novel DNA polymorphism in the beta-globin gene cluster.

G L Semenza, P Malladi, S Surrey, K Delgrosso, M Poncz, E Schwartz.   

Abstract

Analysis of DNA from the beta-globin gene cluster in an Albanian family identified a novel RsaI site approximately 550 base pairs 5' to the beta-globin gene. In this family, two chromosomes carrying otherwise identical beta-globin haplotypes were found to differ at the RsaI site. Population screening demonstrated the presence and absence of the site in DNA from individuals of northern European, Mediterranean, Middle Eastern, Southeast Asian, African, and Asian Indian descent, indicating that this site is a DNA polymorphism common in many ethnic groups. The polymorphism is also present in DNA from individuals carrying different beta-globin alleles. Additional nucleotide sequence changes identified in an RsaI (+) genomic clone in the region immediately 3' to the RsaI site suggest a mechanism for the randomization of the site with respect to haplotype.

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Year:  1984        PMID： 6327661

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


  15 in total

1.  Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation.

Authors:  Mathias Currat; Guy Trabuchet; David Rees; Pascale Perrin; Rosalind M Harding; John B Clegg; André Langaney; Laurent Excoffier
Journal:  Am J Hum Genet       Date:  2001-12-06       Impact factor: 11.025

2.  Analysis of 5' flanking regions of the gamma globin genes from major African haplotype backgrounds associated with sickle cell disease.

Authors:  S R Month; R W Wood; P T Trifillis; P J Orchowski; B Sharon; S K Ballas; S Surrey; E Schwartz
Journal:  J Clin Invest       Date:  1990-02       Impact factor: 14.808

3.  The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.

Authors:  F Kutlar; A E Felice; J L Grech; W H Bannister; A Kutlar; J B Wilson; B B Webber; H Y Hu; T H Huisman
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

4.  Polymorphisms in the HBB gene relate to individual cardiorespiratory adaptation in response to endurance training.

Authors:  Z He; Y Hu; L Feng; Y Lu; G Liu; Y Xi; L Wen; X Xu; K Xu
Journal:  Br J Sports Med       Date:  2006-09-21       Impact factor: 13.800

5.  A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; D Markiewicz; F Rininsland; J Rommens; L C Tsui
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

6.  Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats.

Authors:  J R Spitzner; I K Chung; M T Muller
Journal:  Nucleic Acids Res       Date:  1990-01-11       Impact factor: 16.971

7.  Nucleotide sequence of the delta-beta-globin intergenic segment in the macaque: structure and evolutionary rates in higher primates.

Authors:  P Savatier; G Trabuchet; Y Chebloune; C Faure; G Verdier; V M Nigon
Journal:  J Mol Evol       Date:  1987       Impact factor: 2.395

8.  Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus.

Authors:  S M Fullerton; R M Harding; A J Boyce; J B Clegg
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-01       Impact factor: 11.205

9.  Meiotic recombination in an Irish family with beta-thalassaemia.

Authors:  G W Hall; M Sampietro; R Barnetson; J Fitzgerald; S McCann; S L Thein
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

10.  Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and phylogenetic relationships between African apes and man.

Authors:  P Perrin-Pecontal; M Gouy; V M Nigon; G Trabuchet
Journal:  J Mol Evol       Date:  1992-01       Impact factor: 2.395
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