Nonspecific PCR amplification of CRYBB2- pseudogene leads to misconception of natural variation as mutation

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 9, 2012, Pages 5770-

  Dinesh Kumar, K ^a   Senthil Kumar, G ^a   Santhiya, S T ^a  

^a UNIVERSITY OF MADRAS   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL CATARACT; CRYBB2 PSEUDOGENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; CATARACT; EYE DISEASE; FEMALE; GENETICS; MALE; MUTATION; NOTE;

CRYSTALLIN;

CATARACT; CRYSTALLINS; EYE DISEASES, HEREDITARY; FEMALE; HUMANS; MALE; MUTATION;

EID: 84878386628     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10575     Document Type: Letter

References (3)

1. Weisschuh N, Aisenbrey S, Wissinger B, Riess A. Identification of novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Mol Vis. 2012;18:174-180.
2. Hansen L, Mikkelsen A, Nurnberg P, et al. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 2009; 50:3291-3303.
3. Santhiya ST, Manisastry SM, Rawlley D, et al. Mutation analysis of congenital catracts in Indian families: identification of SNPs and a new causative allele in CRYBB2 gene. Invest Ophthalmol Vis Sci. 2004;45:3599-3607.