title: Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
abstract: We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, we detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin.
authors.affiliation: Department of Pediatrics and Medical Genetics, Rambam Medical Center, Haifa, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: A
authors.initials: A
authors.lastname: Rosenmann
authors.forename: S
authors.initials: S
authors.lastname: Droetto
authors.forename: S
authors.initials: S
authors.lastname: Holmes
authors.forename: R K
authors.initials: RK
authors.lastname: Tripathi
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007585:Jews / Q000235:genetics*; D008002:Libya / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D013030:Spain / Q000208:ethnology; D014416:Tunisia / Q000208:ethnology
chemical_list: D009692:Nucleic Acid Heteroduplexes; D011505:Protein-Tyrosine Kinases