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 Benson

Research output: Contribution to journalArticle

117 Citations (Scopus)

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

Fingerprint

Prealbumin
Polyneuropathies
Alleles
Mutation
Genes
DNA Primers
Thymine
Gene Order
Adenine
DNA Sequence Analysis
Histidine
Codon
Leucine
Blood Proteins
Polymerase Chain Reaction
Messenger RNA
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. / Nichols, William C.; Liepnieks, Juris J.; McKusick, Victor A.; Benson, Merrill.

In: Genomics, Vol. 5, No. 3, 1989, p. 535-540.

Research output: Contribution to journalArticle

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