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

Moumita Chaki, Arijit Mukhopadhyay, Kunal Ray

Research output: Contribution to journalArticle

21 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)53-58
Number of pages6
JournalHuman mutation
Volume26
Issue number1
DOIs
StatePublished - Jul 1 2005

Keywords

  • Mutation
  • OCA
  • OCA1
  • Pseudogene
  • TYR
  • TYRL
  • Tyrosinase
  • dbSNP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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