Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism

The Japanese Journal of Human Genetics
K C ParkS T Lee

Abstract

Oculocutaneous albinism (OCA) is an inherited disorder of the melanin pigmentary system, characterized by a decrease or an absence of melanin in the skin, hair, and eyes. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase (TYR) gene encoding tyrosinase, the enzyme that catalyzes at least the first two steps of melanin biosynthesis. We have analyzed the TYR gene in three Korean patients with severe type I OCA. Two patients were compound heterozygotes for the Arg (CGG) to Gln (CAG) mutation at position 77 and a C insertion mutation at position 310. The other was a compound heterozygote for a C insertion mutation at position 310 and the Asp (GAT) to Asn (AAT) mutation at position 383. These mutations were easily detected by restriction enzyme digestion or by SSCP analysis. Such methods of mutation analysis thus provide a basis for a screening system for the TYR gene mutations in Korean patients with type I OCA.

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Citations

Feb 2, 2012·Molecular Medicine Reports·Jung Min KoHyon-Ju Kim
Aug 16, 2005·The Journal of Investigative Dermatology·Yoshinori MiyamuraYasushi Tomita
Apr 30, 1998·The Japanese Journal of Human Genetics·S T LeeY W Park
Nov 2, 2011·Japanese Journal of Ophthalmology·Shin Hae ParkMyungshin Kim
Oct 25, 2016·Pigment Cell & Melanoma Research·Monika B DolinskaYuri V Sergeev
Aug 29, 2000·Journal of Dermatological Science·D K KimI J Choi

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