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Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification

✍ Scribed by Moumita Chaki; Arijit Mukhopadhyay; Kunal Ray

Book ID
102263921
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
229 KB
Volume
26
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by John McVey

Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3 0region 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

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