Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Sven Opitz; Barbara Käsmann-Kellner; Markus Kaufmann; Eberhard Schwinger; Christine Zühlke

doi:10.1002/humu.9248

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Sven Opitz^*, Barbara Käsmann-Kellner, Markus Kaufmann, Eberhard Schwinger, Christine Zühlke

^*Corresponding author for this work

Institute of Human Genetics

36 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Human Mutation
Volume	23
Issue number	6
Pages (from-to)	630-631
Number of pages	2
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.9248
Publication status	Published - 06.2004

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Research Area: Medical Genetics

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10.1002/humu.9248

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abstract = "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.",

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AU - Opitz, Sven

AU - Käsmann-Kellner, Barbara

AU - Kaufmann, Markus

AU - Schwinger, Eberhard

AU - Zühlke, Christine

PY - 2004/6

Y1 - 2004/6

N2 - 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.

AB - 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.

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JO - Human Mutation

JF - Human Mutation

IS - 6

ER -

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Abstract

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