PMID: 2106480Feb 1, 1990Paper

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

Genomics
M D TraystmanH H Kazazian

Abstract

Point mutations in the factor VIII gene are responsible for the majority of cases of hemophilia A, and only a small fraction of these mutations can be recognized by restriction endonuclease analysis. We have now used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize single nucleotide substitutions in the factor VIII gene. Five regions of the gene were studied: exon 8, the 3' end of exon 14, exon 17, exon 18, and exon 24. A GC clamp was attached to the 5' PCR primer to allow detection of the majority of single base changes in DNA fragments ranging from 249 to 356 bp. Ten of eleven known point mutations were definitively separated. Fifty-two patients with unknown mutations were then studied by these methods, and the disease-producing mutation was found in three. First, we identified a new missense mutation in exon 14 which is the likely cause of hemophilia A in one patient (tyrosine changed to cysteine at amino acid residue 1709). Second, we found a new missense mutation in exon 18 in one patient (asparagine to aspartic acid at amino acid residue 1922). Third, a previously described mutation in exon 24 was detected (arginine changed to glutamine at amino acid residue 2209). In addition, a new p...Continue Reading

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Citations

Dec 1, 1995·Genes, Chromosomes & Cancer·Z LiuJ K Cowell
Apr 1, 1991·Annals of Hematology·M Goossens, N Ghanem
Jul 1, 1993·Mutation Research·N F Cariello, T R Skopek
Jan 6, 1994·The New England Journal of Medicine·L W Hoyer
Nov 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·L S WeinsteinA M Spiegel
Mar 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S Kogan, J Gitschier
Aug 25, 1991·Proceedings of the National Academy of Sciences of the United States of America·M HiguchiS E Antonarakis
Oct 11, 1991·Proceedings of the National Academy of Sciences of the United States of America·M HiguchiH H Kazazian
Feb 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·M N KuppuswamyS P Bajaj
Jul 1, 1991·Transfusion Medicine Reviews·D Lillicrap
Jan 1, 1993·European Journal of Pediatrics·T R BrownZ Zhou
Jan 1, 1994·Human Mutation·R Fodde, M Losekoot
Jan 1, 1993·Human Mutation·I R HusseinH H Kazazian
Jan 1, 1995·Human Mutation·S E AntonarakisE G Tuddenham
Jan 1, 1991·Annals of the New York Academy of Sciences·J Gitschier
Sep 13, 1991·Journal of Chromatography·S Wood, S Langlois
Nov 1, 1992·PCR Methods and Applications·G Ruano, K K Kidd

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