Article
Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.
Human mutation - 1 Jul 2005
Chaki Moumita, Mukhopadhyay Arijit, Ray Kunal
Abstract excerpt
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...
Topics
- 3' Flanking Region
- Albinism, Oculocutaneous
- DNA Mutational Analysis
- Exons
- Genetic Variation
- Humans
- Monophenol Monooxygenase
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide
- Pseudogenes
- Sensitivity and Specificity