Article
Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
Genomics - 1 Nov 1992
Farrar G J, Kenna P, Jordan S A, Kumar-Singh R, Humphries M M, Sharp E M, Sheils D, Humphries P
Abstract excerpt
Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon 2, which results in the replacement of a serine residue at codon 212 for a glycine residue. The mutation...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 6
- DNA, Single-Stranded
- Genes, Dominant
- Genetic Linkage
- Humans
- Intermediate Filament Proteins
- Membrane Glycoproteins
- Molecular Sequence Data