1995 Fiscal Year Final Research Report Summary
Study on mutation and expression of tyrosinase gene causing oculocutaneous albinisim.
| Project/Area Number |
06454314
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | AKITA UNIVERSITY |
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Principal Investigator |
TOMITA Yasushi Akita Univ.Sch.of Med, Dept.of Dermatol., Professor, 医学部, 教授 (70108512)
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| Co-Investigator(Kenkyū-buntansha) |
KUBOTA Takashi Akita Univ.Sch.of Med, Dept.of Dermatol., Associate, 医学部, 助手 (60250875)
OKADA Osamu Akita Univ.Sch.of Med, Dept.of Dermatol., Associate, 医学部, 助手 (40241658)
SATO Toshiki Akita Univ.Sch.of Med, Dept.of Dermatol., Lecuturer, 医学部, 講師 (40187216)
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| Project Period (FY) |
1994 – 1995
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| Keywords | albinism / mutation / gene diagnosis / melanin / tyrosinase / 点突然変異 |
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| Research Abstract |
We examined the tyrosinase gene of two Japanese patients with tyrosinase-negative oculocutaneous albinism by allele-specific amplification analysis on two known point mutations in Japanese, and the results indicated that they were compound heterozygouts, namely, one allele of the tyrosinase gene harbored one of two known mutations and another allele probably had a mutation unknown in Japanese patients. Therefore, we have cloned and sequenced the tyrosinase gene of the two patients and identified two different point mutations. One is a nonsense mutation, codon 278CGA (Arg) to TGA (TER), and the other is a substitution mutation, codon 431CCA (Pro) to CTA (Leu). However, these same mutations have already been observed in a Guyanan and a Moroccan Jewish patient, and in an Indo-Pakistani patient, respectively.
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