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
Genomicsjournal_title
Genomicsauthors
O'Donovan MC,Oefner PJ,Roberts SC,Austin J,Hoogendoorn B,Guy C,Speight G,Upadhyaya M,Sommer SS,McGuffin Pdoi
10.1006/geno.1998.5411subject
Has Abstractpub_date
1998-08-15 00:00:00pages
44-9issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(98)95411-8journal_volume
52pub_type
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