Determination of Variants in the 30-Region of the Tyrosinase Gene Requires Locus Specific Amplification
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
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Title |
Determination of Variants in the 30-Region of the Tyrosinase Gene Requires Locus Specific Amplification
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Creator |
Chaki, Moumita
Mukhopadhyay, Arijit Roy, Kunal |
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Subject |
Molecular & Human Genetics
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Description |
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.
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Date |
2005
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Type |
Article
PeerReviewed |
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Format |
application/pdf
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Identifier |
http://www.eprints.iicb.res.in/1113/1/HUMAN_MUTATION%2C__26(_1)%2C__53%2D58_[47].pdf
Chaki, Moumita and Mukhopadhyay, Arijit and Roy, Kunal (2005) Determination of Variants in the 30-Region of the Tyrosinase Gene Requires Locus Specific Amplification. Human Mutation, 26 (1). pp. 53-58. |
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Relation |
http://dx.doi.org/10.1002/humu.20171
http://www.eprints.iicb.res.in/1113/ |
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