Nucleic Acids Research, Vol 26, Issue 6 1396-1400, Copyright © 1998 by Oxford University Press
W Liu, DI Smith, KJ Rechtzigel, SN Thibodeau and CD James
Denaturing high performance liquid chromatography (DHPLC) has been
described recently as a method for screening DNA samples for single
nucleotide polymorphisms and inherited mutations. Thirty-eight DNAs, 22 of
which were heterozygous for previously characterized rearranged
transforming gene (RET) or cystic fibrosis transmembrane conductance
regulator gene (CFTR) mutations or polymorphisms, were examined using DHPLC
analysis to assess the accuracy of this scanning method. Ninety- one per
cent (20/22) of the PCR amplicons from specimens with heterozygous RET or
CFTR sequence showed elution profiles distinct from corresponding
homozygous normal patterns; whether the profiles for two amplicons
containing heterozygous RET sequence were distinct from homozygous cases
was equivocal. To investigate the usefulness of this method for detecting
mutations in tumor DNAs, each of the phosphatase and tensin homologue
deleted on chromosome ten gene (PTEN) exons were examined for mutations in
63 malignant gliomas. Seventeen PTEN PCR products from this series of brain
tumors showed elution profiles indicating sample heterozygosity and in each
instance conventional sequencing confirmed the presence of a mutation. PTEN
amplicons containing exons 1, 3 and 5 were sequenced for each of the 63
tumor DNAs to determine whether any mutations may have escaped DHPLC
detection, and this analysis identified one such alteration in addition to
the eight mutations that DHPLC had revealed. In total, DHPLC identified 37
of 40 (92.5%) PCR products containing defined sequence variation and no
alterations were indicated among 196 amplicons containing homozygous normal
sequence.
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Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
Department of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA.
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