Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.

Abstract:

:Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection.

journal_name

Genomics

journal_title

Genomics

authors

O'Donovan MC,Oefner PJ,Roberts SC,Austin J,Hoogendoorn B,Guy C,Speight G,Upadhyaya M,Sommer SS,McGuffin P

doi

10.1006/geno.1998.5411

subject

Has Abstract

pub_date

1998-08-15 00:00:00

pages

44-9

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(98)95411-8

journal_volume

52

pub_type

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