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PMID: 2113511 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

Human genetics ·Vol. 85 ·No. 1 ·1990-06-00 ·Pages 123-4

Kikuchi H, Hara S, Ishiguro S, Tamai M, Watanabe M

Abstract

Enzymatic DNA amplification and direct DNA sequencing were used to detect a mutation in the tyrosinase gene of an albino patient. Single-base change could be detected by direct sequencing. This base change (G to A) is thought to result in an amino acid change (Arg to Gln) in tyrosinase of the patient.

MeSH Terms
Albinism/genetics Amino Acid Sequence Base Sequence Catechol Oxidase/genetics DNA/genetics DNA Mutational Analysis Gene Amplification Humans Immunoblotting Japan Leukocytes Molecular Sequence Data Monophenol Monooxygenase/genetics Mutation Polymerase Chain Reaction
Chemicals
DNA Catechol Oxidase Monophenol Monooxygenase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Kikuchi H
Laboratory of Cancer Chemotherapy and Prevention, Research Institute for Tuberculosis and Cancer, Sendai, Japan.
Hara S
Ishiguro S
Tamai M
Watanabe M
References (8)
8 references, click to expand
  1. Albinism.
    Adv Hum Genet. 1971;2:61-142 PMID: 5005925
  2. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
    Proc Natl Acad Sci U S A. 1989 Mar;86(6):1919-23 PMID: 2928313
  3. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.
    Proc Natl Acad Sci U S A. 1987 Nov;84(21):7473-7 PMID: 2823263
  4. DNA sequencing with chain-terminating inhibitors.
    Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7 PMID: 271968
  5. Characteristic sequences in the upstream region of the human tyrosinase gene.
    Biochim Biophys Acta. 1989 Dec 22;1009(3):283-6 PMID: 2480811
  6. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.
    Science. 1988 Jan 29;239(4839):487-91 PMID: 2448875
  7. Albinism.
    Surv Ophthalmol. 1985 Sep-Oct;30(2):75-101 PMID: 3934778
  8. A convenient method of establishing permanent lines of xeroderma pigmentosum cells.
    Cancer Res. 1978 Feb;38(2):253-6 PMID: 202381
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00276337
Published
1990-06-00
Pages
123-4
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00276337 View journal details
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