Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification.
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 allele-specific oligonucleotide primer.
Nichols
W C
WC
Department of Medical Genetics, Indiana University Medical Center, Indianapolis 46202.
Liepnieks
J J
JJ
McKusick
V A
VA
Benson
M D
MD
D000483:Alleles; D000686:Amyloidosis / Q000235:genetics*; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D005091:Exons; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin