Premium
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism
Author(s) -
Opitz Sven,
KäsmannKellner Barbara,
Kaufmann Markus,
Schwinger Eberhard,
Zühlke Christine
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9248
Subject(s) - albinism , biology , genetics , tyrosinase , oculocutaneous albinism , gene , mutation , nucleotide , dna , microbiology and biotechnology , enzyme , biochemistry
Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1. Analysing patients with recessively inherited albinism we found DNA variations in 82 unrelated individuals. 53 out of 78 mutations and polymorphisms revealed by this study are not published previously. The changes include 68 nucleotide substitutions resulting in amino acid changes, stop mutations and polymorphisms as well as four nucleotide insertions and six deletions. Furthermore, we found an accumulation of three to five mutations in 17 patients with OCA1. © 2004 Wiley‐Liss, Inc.