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

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

W C Yang  1 , L Zhu  1 , B X Zhou  1 , S Tania  1 , Q Zhou  2 , M A Khan  1 , X L Fu  1 , J L Cheng  1 , H B Lv  3 , J J Fu  1
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Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers

W C Yang et al. Genet Mol Res. .

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.

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