Establishment and rapid detection of a （的建立和快速检测）.pdfVIP

Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers 1 1 1 1 2 1 W.C. Yang *, L. Zhu *, B.X. Zhou *, S. Tania , Q. Zhou , M.A. Khan , 1 1 2 1 X.L. Fu , J.L. Cheng , H.B. Lv and J.J. Fu 1Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Luzhou Medical College, Luzhou, Sichuan, China 2Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, Sichuan, China *These authors contributed equally to this study. Corresponding authors: H.B. Lv / J.J. Fu E-mail: oculistlvhongbin@163.com / fujunjiang@ Genet. Mol. Res. 14 (3): 11480-11487 (2015) Received February 6, 2015 Accepted June 26, 2015 Published September 25, 2015 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) an