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 other mutations were found less frequently, two of which, L288delT and IVS2-7t→a,-10-11deltt, are novel. This study may provide valuable information for the molecular diagnosis of and accurate genetic counseling for OCA1 in Koreans and perhaps other Asian groups.
|Number of pages||5|
|Journal||Molecules and cells|
|Publication status||Published - 1997 Apr 30|
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Cell Biology