title: Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.
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.
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: W C
authors.initials: WC
authors.lastname: Yang
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: L
authors.initials: L
authors.lastname: Zhu
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: B X
authors.initials: BX
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: S
authors.initials: S
authors.lastname: Tania
authors.affiliation: Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: M A
authors.initials: MA
authors.lastname: Khan
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: X L
authors.initials: XL
authors.lastname: Fu
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: J L
authors.initials: JL
authors.lastname: Cheng
authors.affiliation: Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan, China oculistlvhongbin@163.com.
authors.forename: H B
authors.initials: HB
authors.lastname: Lv
authors.affiliation: Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China.
authors.forename: J J
authors.initials: JJ
authors.lastname: Fu
mesh_terms: D020137:Base Pair Mismatch / Q000235:genetics*; D001483:Base Sequence; D020746:Calcium Channels, L-Type / Q000235:genetics*; D017931:DNA Primers / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA
chemical_list: C113330:CACNA1F protein, human; D020746:Calcium Channels, L-Type; D017931:DNA Primers