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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 Apr;54(4):586–594.

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

R Gershoni-Baruch 1, A Rosenmann 1, S Droetto 1, S Holmes 1, R K Tripathi 1, R A Spritz 1
PMCID: PMC1918101  PMID: 8128955

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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