Literature DB >> 2066111

The length polymorphism in the 5' flanking region of the human beta-globin gene with denaturing gradient gel electrophoresis in a Japanese population.

N Takahashi1, K Hiyama, M Kodaira, C Satoh.   

Abstract

The ATTTT repeat polymorphism located approximately 1,400 base pairs (bp) upstream from the beta-globin structural gene was analyzed by denaturing gradient gel electrophoresis (DGGE) of RNA:DNA duplexes. A study of 81 unrelated Japanese from Hiroshima revealed a sequence heteromorphism in this site. The alleles with five and six repeats of the ATTTT unit, which have been reported, were found in polymorphic proportions. Two unreported alleles were also detected, the first, in two persons, characterized by seven repeats and the other, in a single person, having an A-to-G nucleotide substitution in the fifth repeat.

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Year:  1991        PMID: 2066111     DOI: 10.1007/BF00204187

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  7 in total

1.  Detection of deletions, insertions and single nucleotide substitutions in cloned beta-globin genes and new polymorphic nucleotide substitutions in beta-globin genes in a Japanese population using ribonuclease cleavage at mismatches in RNA:DNA duplexes.

Authors:  K Hiyama; M Kodaira; C Satoh
Journal:  Mutat Res       Date:  1990-08       Impact factor: 2.433

2.  An improved method for the detection of genetic variations in DNA with denaturing gradient gel electrophoresis.

Authors:  N Takahashi; K Hiyama; M Kodaira; C Satoh
Journal:  Mutat Res       Date:  1990-04       Impact factor: 2.433

3.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

4.  Detection and localization of single base changes by denaturing gradient gel electrophoresis.

Authors:  R M Myers; T Maniatis; L S Lerman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

5.  Dideoxy sequencing method using denatured plasmid templates.

Authors:  M Hattori; Y Sakaki
Journal:  Anal Biochem       Date:  1986-02-01       Impact factor: 3.365

6.  Duplication/deletion polymorphism 5' - to the human beta globin gene.

Authors:  R A Spritz
Journal:  Nucleic Acids Res       Date:  1981-10-10       Impact factor: 16.971

7.  Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.

Authors:  C Wong; C E Dowling; R K Saiki; R G Higuchi; H A Erlich; H H Kazazian
Journal:  Nature       Date:  1987 Nov 26-Dec 2       Impact factor: 49.962

  7 in total
  1 in total

1.  A pentanucleotide repeat polymorphism in the 5' control region of the apolipoprotein(a) gene is associated with lipoprotein(a) plasma concentrations in Caucasians.

Authors:  M Trommsdorff; S Köchl; A Lingenhel; F Kronenberg; R Delport; H Vermaak; L Lemming; I C Klausen; O Faergeman; G Utermann
Journal:  J Clin Invest       Date:  1995-07       Impact factor: 14.808

  1 in total

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