Literature DB >> 2113511

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

H Kikuchi1, S Hara, S Ishiguro, M Tamai, M Watanabe.   

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.

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Year:  1990        PMID： 2113511     DOI： 10.1007/bf00276337

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.

Authors:  B S Kwon; A K Haq; S H Pomerantz; R Halaban
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

2.  A convenient method of establishing permanent lines of xeroderma pigmentosum cells.

Authors:  H Tohda; A Oikawa; T Katsuki; Y Hinuma; M Seiji
Journal:  Cancer Res       Date:  1978-02       Impact factor: 12.701

3.  Characteristic sequences in the upstream region of the human tyrosinase gene.

Authors:  H Kikuchi; H Miura; H Yamamoto; T Takeuchi; T Dei; M Watanabe
Journal:  Biochim Biophys Acta       Date:  1989-12-22

4.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

Review 5.  Albinism.

Authors:  P E Kinnear; B Jay; C J Witkop
Journal:  Surv Ophthalmol       Date:  1985 Sep-Oct       Impact factor: 6.048

Review 6.  Albinism.

Authors:  C J Witkop
Journal:  Adv Hum Genet       Date:  1971

7.  Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Authors:  R A Gibbs; P N Nguyen; L J McBride; S M Koepf; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

8.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
  8 in total
  11 in total

1.  A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Authors:  L B Giebel; M A Musarella; R A Spritz
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

2.  Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

Authors:  R A Spritz; K M Strunk; C L Hsieh; G S Sekhon; U Francke
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

3.  Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors:  W S Oetting; M M Mentink; C G Summers; R A Lewis; J G White; R A King
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

4.  A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

Authors:  W S Oetting; C J Witkop; S A Brown; R Colomer; J P Fryer; K E Bloom; R A King
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

5.  Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Authors:  L B Giebel; R K Tripathi; K M Strunk; J M Hanifin; C E Jackson; R A King; R A Spritz
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

6.  A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

Authors:  L B Giebel; R K Tripathi; R A King; R A Spritz
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

7.  The tyrosinase-related protein-1 gene has a structure and promoter sequence very different from tyrosinase.

Authors:  I J Jackson; D M Chambers; P S Budd; R Johnson
Journal:  Nucleic Acids Res       Date:  1991-07-25       Impact factor: 16.971

8.  Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

Authors:  W S Oetting; R A King
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

9.  A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.

Authors:  R K Tripathi; L B Giebel; K M Strunk; R A Spritz
Journal:  Gene Expr       Date:  1991-05

10.  A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus.

Authors:  I J Jackson; D M Chambers; K Tsukamoto; N G Copeland; D J Gilbert; N A Jenkins; V Hearing
Journal:  EMBO J       Date:  1992-02       Impact factor: 11.598
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