Literature DB >> 2298920

Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.

S P Cai1, Y W Kan.   

Abstract

We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.

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Year:  1990        PMID: 2298920      PMCID: PMC296457          DOI: 10.1172/JCI114471

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  10 in total

1.  Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Authors:  V C Sheffield; D R Cox; L S Lerman; R M Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

Review 2.  Molecular basis and prenatal diagnosis of beta-thalassemia.

Authors:  H H Kazazian; C D Boehm
Journal:  Blood       Date:  1988-10       Impact factor: 22.113

3.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

4.  Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

Authors:  R G Cotton; N R Rodrigues; R D Campbell
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

5.  Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes.

Authors:  S P Cai; C A Chang; J Z Zhang; R K Saiki; H A Erlich; Y W Kan
Journal:  Blood       Date:  1989-02       Impact factor: 22.113

6.  A sensitive new prenatal test for sickle-cell anemia.

Authors:  J C Chang; Y W Kan
Journal:  N Engl J Med       Date:  1982-07-01       Impact factor: 91.245

7.  DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.

Authors:  S G Fischer; L S Lerman
Journal:  Proc Natl Acad Sci U S A       Date:  1983-03       Impact factor: 11.205

8.  Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis.

Authors:  R M Myers; S G Fischer; L S Lerman; T Maniatis
Journal:  Nucleic Acids Res       Date:  1985-05-10       Impact factor: 16.971

9.  Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

Authors:  R M Myers; Z Larin; T Maniatis
Journal:  Science       Date:  1985-12-13       Impact factor: 47.728

10.  Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

Authors:  B J Conner; A A Reyes; C Morin; K Itakura; R L Teplitz; R B Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205

  10 in total
  12 in total

1.  Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis.

Authors:  M Losekoot; H van Heeren; J J Schipper; P C Giordano; L F Bernini; R Fodde
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

2.  Molecular characterization of beta-thalassemia in the Sardinian population.

Authors:  M C Rosatelli; A Dozy; V Faà; A Meloni; R Sardu; L Saba; Y W Kan; A Cao
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

3.  Genetic variation in insulin receptor beta-chain exons among members of familial type 2 (non-insulin-dependent) diabetic pedigrees.

Authors:  S C Elbein; L K Sorensen
Journal:  Diabetologia       Date:  1991-10       Impact factor: 10.122

4.  Rapid detection of hemoglobin variants by mutagenically separated polymerase chain reaction (MS-PCR).

Authors:  J G Chang; C P Chang; C M Lu; J M Huang; J T Chen; H J Liu
Journal:  Ann Hematol       Date:  1995-08       Impact factor: 3.673

Review 5.  Carrier screening and genetic counselling in beta-thalassemia.

Authors:  Antonio Cao
Journal:  Int J Hematol       Date:  2002-08       Impact factor: 2.490

6.  Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.

Authors:  L S Weinstein; P V Gejman; E Friedman; T Kadowaki; R M Collins; E S Gershon; A M Spiegel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

7.  Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.

Authors:  A M van den Maagdenberg; W Weng; I H de Bruijn; P de Knijff; H Funke; A H Smelt; J A Gevers Leuven; F M van't Hooft; G Assmann; M H Hofker
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

8.  A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to beta-thalassemia.

Authors:  S P Cai; B Eng; Y W Kan; D H Chui
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

Review 9.  The prevention of thalassemia.

Authors:  Antonio Cao; Yuet Wai Kan
Journal:  Cold Spring Harb Perspect Med       Date:  2013-02-01       Impact factor: 6.915

10.  Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient.

Authors:  P Aguilar-Martinez; F Galacteros; J F Schved; Y Blouquit; J C Gris; J Demaille; M Claustres
Journal:  Ann Hematol       Date:  1993-05       Impact factor: 3.673

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