Literature DB >> 3005579

Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.

J M Old, C Heath, A Fitches, S L Thein, A J Jeffreys, M Petrou, B Modell, D J Weatherall.   

Abstract

Analysis of beta globin gene haplotypes for prenatal diagnosis of beta thalassaemia has revealed a recombination event within the beta globin gene cluster. Both a change in the AvaII polymorphic site within the beta globin gene and a change in the phenotype of the beta globin gene were observed. Paternity was established by the pedigree analysis of hypervariable 'minisatellite' DNA polymorphisms and the most probable explanation of the recombination event is a crossover between the psi beta globin gene and the beta globin gene. The data provide direct evidence in support of a DNA region 3' to the beta globin gene with a recombination frequency much higher than expected, and have important implications for the prenatal diagnosis of beta thalassaemia by linked restriction fragment length polymorphisms.

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Year:  1986        PMID： 3005579      PMCID： PMC1049534          DOI： 10.1136/jmg.23.1.14

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

Review 1.  Prenatal diagnosis of human genome variation.

Authors:  D M Kurnit; H Hoehn
Journal:  Annu Rev Genet       Date:  1979       Impact factor: 16.830

2.  Hypervariable 'minisatellite' regions in human DNA.

Authors:  A J Jeffreys; V Wilson; S L Thein
Journal:  Nature       Date:  1985 Mar 7-13       Impact factor: 49.962

3.  A new DNA polymorphism for prenatal diagnosis of beta-thalassaemia in Mediterranean populations.

Authors:  J S Wainscoat; J M Old; S L Thein; D J Weatherall
Journal:  Lancet       Date:  1984-12-08       Impact factor: 79.321

4.  Identification of a recent recombination event within the human beta-globin gene cluster.

Authors:  D S Gerhard; K K Kidd; J R Kidd; J A Egeland; D E Housman
Journal:  Proc Natl Acad Sci U S A       Date:  1984-12       Impact factor: 11.205

5.  Nonuniform recombination within the human beta-globin gene cluster.

Authors:  A Chakravarti; K H Buetow; S E Antonarakis; P G Waber; C D Boehm; H H Kazazian
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

6.  Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Authors:  S E Antonarakis; C D Boehm; P J Giardina; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1982-01       Impact factor: 11.205

7.  Studies on the selectivity of DNA precipitation by spermine.

Authors:  B C Hoopes; W R McClure
Journal:  Nucleic Acids Res       Date:  1981-10-24       Impact factor: 16.971

8.  Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

Authors:  Y W Kan; A M Dozy
Journal:  Proc Natl Acad Sci U S A       Date:  1978-11       Impact factor: 11.205

9.  Feasibility of antenatal diagnosis of beta thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations.

Authors:  J M Old; M Petrou; B Modell; D J Weatherall
Journal:  Br J Haematol       Date:  1984-06       Impact factor: 6.998

10.  DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man.

Authors:  A J Jeffreys
Journal:  Cell       Date:  1979-09       Impact factor: 41.582
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  8 in total

Review 1.  The evolution of the alpha- and beta-globin gene clusters in human populations.

Authors:  A V Hill; J S Wainscoat
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

2.  High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q.

Authors:  A M Bowcock; J M Hebert; E Wijsman; I Gadi; L L Cavalli-Sforza; C D Boyd
Journal:  Proc Natl Acad Sci U S A       Date:  1988-04       Impact factor: 11.205

3.  Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

Authors:  C Camaschella; A Serra; G Saglio; M T Bertero; U Mazza; S Terzoli; B Brambati; L Cremonesi; M Travi; M Ferrari
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

4.  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

Review 5.  Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.

Authors:  J Flint; R M Harding; J B Clegg; A J Boyce
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

6.  Haplotypes inside the beta-globin gene: use as new biomarkers for beta-thalassemia prenatal diagnosis in north of Iran.

Authors:  Mohammad Bagher Hashemi-Soteh; Seyed Saeed Mousavi; Alireza Tafazoli
Journal:  J Biomed Sci       Date:  2017-12-04       Impact factor: 8.410

7.  Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis.

Authors:  Rossarin Karnpean; Wanicha Tepakhan; Prame Suankul; Sitthikorn Thingphom; Apichaya Poonsawat; Naritthakarn Thanunchaikunlanun; Rotsakorn Ruangsanngamsiri; Wittaya Jomoui
Journal:  Genes (Basel)       Date:  2022-08-03       Impact factor: 4.141

8.  Beta globin frameworks in thalassemia major patients from north iran.

Authors:  Haleh Akhavan-Niaki; Ali Banihashemi; Mandana Azizi
Journal:  Iran J Pediatr       Date:  2012-09       Impact factor: 0.364
  8 in total

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