Literature DB >> 6505702

Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.

S A Liebhaber, E F Rappaport, F E Cash, S K Ballas, E Schwartz, S Surrey.   

Abstract

Genetic analysis of an individual expressing an unexpectedly high level of hemoglobin I, an alpha-globin structural mutant, reveals that the mutation is present at both the alpha 1- and the alpha 2-globin gene loci. Kindred analysis confirms that the two affected genes are located in cis. The most likely explanation for this finding is that a recent conversion event occurred within the human alpha-globin gene cluster.

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Year:  1984        PMID： 6505702     DOI： 10.1126/science.6505702

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  6 in total

1.  Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.

Authors:  R V Lebo; R K Saiki; K Swanson; M A Montano; H A Erlich; M S Golbus
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

2.  Polymorphism and gene conversion in mouse alpha-globin haplotypes.

Authors:  M A Erhart; K Piller; S Weaver
Journal:  Genetics       Date:  1987-03       Impact factor: 4.562

Review 3.  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

4.  Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs.

Authors:  A Mamalaki; M Horanyi; J Szelenyi; N K Moschonas
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

5.  Human alpha-globin genes demonstrate autonomous developmental regulation in transgenic mice.

Authors:  M Albitar; M Katsumata; S A Liebhaber
Journal:  Mol Cell Biol       Date:  1991-07       Impact factor: 4.272

6.  Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Authors:  Kamran Moradkhani; Claude Préhu; John Old; Shirley Henderson; Vera Balamitsa; Hong-Yuan Luo; Man-Chiu Poon; David H K Chui; Henri Wajcman; George P Patrinos
Journal:  Ann Hematol       Date:  2008-10-16       Impact factor: 3.673
  6 in total

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