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

Kyoung Chan Park, Sang Kyu Park, Yong Suk Lee, Sang Woong Youn, Byung Soon Park, Kyu Han Kim, Seung-Taek Lee

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)299-305
Number of pages7
JournalJapanese Journal of Human Genetics
Volume41
Issue number3
DOIs
Publication statusPublished - 1996 Jan 1

Fingerprint

Monophenol Monooxygenase
Mutation
Melanins
Oculocutaneous Albinism
Genes
Insertional Mutagenesis
Heterozygote
Single-Stranded Conformational Polymorphism
Enzymes
Hair
Oculocutaneous albinism type 1
Digestion
Skin

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Park, Kyoung Chan ; Park, Sang Kyu ; Lee, Yong Suk ; Youn, Sang Woong ; Park, Byung Soon ; Kim, Kyu Han ; Lee, Seung-Taek. / Mutations of the Tyrosinase gene in three Korean patients with type I oculocutaneous albinism. In: Japanese Journal of Human Genetics. 1996 ; Vol. 41, No. 3. pp. 299-305.
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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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Mutations of the Tyrosinase gene in three Korean patients with type I oculocutaneous albinism. / Park, Kyoung Chan; Park, Sang Kyu; Lee, Yong Suk; Youn, Sang Woong; Park, Byung Soon; Kim, Kyu Han; Lee, Seung-Taek.

In: Japanese Journal of Human Genetics, Vol. 41, No. 3, 01.01.1996, p. 299-305.

Research output: Contribution to journalArticle

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AB - 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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