Determination of Variants in the 30-Region of the Tyrosinase Gene Requires Locus Specific Amplification

Mutations in the Tyrosinase gene (TYR, 11q14–q21) cause oculocutaneous albinism type 1 (OCA1). The 30- 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. Hum Mutat 26(1), 53–58, 2005. r 2005 Wiley-Liss, Inc