Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers

Genet Mol Res. 2015 Sep 25;14(3):11480-7. doi: 10.4238/2015.September.25.14.

Abstract

Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and identified a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by RP. This study actually confirms this novel mutation, and establishes the ARMS technique for the detection of mutations in RP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Pair Mismatch / genetics*
  • Base Sequence
  • Calcium Channels, L-Type / genetics*
  • DNA Primers / metabolism*
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Point Mutation / genetics
  • Polymerase Chain Reaction / methods*
  • Reproducibility of Results
  • Sequence Analysis, DNA

Substances

  • CACNA1F protein, human
  • Calcium Channels, L-Type
  • DNA Primers