Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism.
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.
Matsunaga
J
J
Department of Dermatology, Akita University School of Medicine, Japan.
Dakeishi
M
M
Miyamura
Y
Y
Tomita
Y
Y
D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics; D001483:Base Sequence; D002461:Cell Line, Transformed; D004247:DNA; D006801:Humans; D008214:Lymphocytes / Q000166:cytology; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA
D004247:DNA; D014442:Monophenol Monooxygenase