Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

Journal Article · Fri Apr 01 04:00:00 EST 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7034382

Gershoni-Baruch, R ^[1]; Rosenmann, A ^[2]; Droetto, S; Holmes, S; Tripathi, R K; Spritz, R A ^[3]

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1. Technion-Israel Institute of Technology, Haifa (Israel)
2. Hadassah Medical Center, Jerusalem (Israel)
3. Univ. of Wisconsin, Madison, WI (United States)

The authors 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. They 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, they 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. 28 refs., 1 fig., 2 tabs.

• OSTI ID: 7034382
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ASIA
BIOLOGICAL VARIABILITY
DEVELOPING COUNTRIES
ENZYMES
GENE MUTATIONS
GENETIC VARIABILITY
HUMAN POPULATIONS
HYDROXYLASES
ISRAEL
MIDDLE EAST
MUTATIONS
ORGANIC COMPOUNDS
OXIDOREDUCTASES
POPULATIONS
PROTEINS
TYROSINASE