Article
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
Molecules and cells - 30 Apr 1997
Park S K, Lee K H, Park K C, Lee J S, Spritz R A, Lee S T
Abstract excerpt
We analyzed the tyrosinase (TYR) gene of 12 Korean patients with various types of oculocutaneous albinism (OCA). We identified five different mutations in the TYR gene in 4 patients with severe OCA and in 2 patients with mild OCA, but found no mutations in the 6 patients with mild OCA phenotypes. Among the 5 mutations, a frameshift mutation, P310insC, was detected most frequently (allele frequency = 0.5), and the...
Topics
- Adult
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA Primers
- Exons
- Female
- Frameshift Mutation
- Genetic Counseling
- Humans