PMID: 9170165Feb 1, 1997Paper

Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism

Pigment Cell Research
J MatsunagaY Tomita

Abstract

We examined the tyrosinase gene from a patient with tyrosinase-negative oculocutaneous albinism (OCA). First we studied the protein coding region, exon/intron junctions, and the proximal promoter region (positions -300 to +1) of her tyrosinase gene by direct sequencing. Although the results showed that she was heterozygote for the R77Q mutation, we could find no other mutation. To find a second mutation and compare the sequence in the 5'-flanking region of her tyrosinase gene between two OCA alleles, we amplified a 2422-bp stretch (positions -2065 to +357, including R77Q mutation site) by PCR, and cloned it into a plasmid vector. As a result, we discovered a difference between two OCA alleles in the GA repeat region. Therefore, we expect that the polymorphism in the GA repeat region of the tyrosinase gene will be used as a flanking marker of the OCA allele.

References

Feb 1, 1992·Biochemical Society Transactions·J D JohnstonA F Winder
Dec 25, 1991·Nucleic Acids Research·S W MorrisD St Clair
Jul 15, 1991·Gene·I Benhar, H Engelberg-Kulka
May 25, 1990·Nucleic Acids Research·L B Giebel, R A Spritz
Nov 15, 1989·Biochemical and Biophysical Research Communications·Y TomitaS Shibahara

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Citations

Aug 12, 1999·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·E RosenmannA Blumenfeld

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