Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

William C. Nichols, Juris J. Liepnieks, Victor A. McKusick, Merrill D. Benson

Research output: Contribution to journalArticle

119 Scopus citations

Abstract

Direct genomic DNA sequencing has been used to characterize the mutation associated with familial amyloidotic polyneuropathy in the Maryland/German kindred. A mutation of thymine to adenine in the prealbumin (transthyretin) gene at the position corresponding to the second base of codon 58 in the prealbumin mRNA gives a histidine for leucine substitution in the plasma protein. Since the mutation does not result in a change in the restriction pattern of the prealbumin gene, a new method for the direct detection of single base changes in genomic DNA was developed using the polymerase chain reaction and an allelespecific oligonucleotide primer.

Original languageEnglish (US)
Pages (from-to)535-540
Number of pages6
JournalGenomics
Volume5
Issue number3
DOIs
StatePublished - Oct 1989

ASJC Scopus subject areas

  • Genetics

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