title: Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.
abstract: Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3'-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2-cen). A large number of publicly available nucleotide variants of TYR in this region are same as the bases present in the identical locations in the pseudogene. PCR amplification of these regions using primers with sequences common to both loci may result in coamplification of TYR and TYRL, and may lead to misinterpretation of the results. We have resolved this potential problem using locus-specific amplification conditions that could be used to identify unequivocally mutations and SNPs in exon 4 and exon 5 of TYR and proximal flanking sequences.
authors.affiliation: Human Genetics and Genomics Division, Indian Institute of Chemical Biology, Kolkata, India.
authors.forename: Moumita
authors.initials: M
authors.lastname: Chaki
authors.forename: Arijit
authors.initials: A
authors.lastname: Mukhopadhyay
authors.forename: Kunal
authors.initials: K
authors.lastname: Ray
mesh_terms: D024509:3' Flanking Region / Q000235:genetics*; D016115:Albinism, Oculocutaneous / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011544:Pseudogenes / Q000235:genetics; D012680:Sensitivity and Specificity
chemical_list: D014442:Monophenol Monooxygenase