Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients

被引：27

作者：

Suzuki, T

Miyamura, Y

Matsunaga, J

Shimizu, H

Kawachi, Y

Ohyama, N

Ishikawa, O

Ishikawa, T

Terao, H

Tomita, Y

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Showa Ku, Nagoya, Aichi 4668550, Japan

[2] Tohoku Univ, Grad Sch Med, Dept Dermatol, Sendai, Miyagi 980, Japan

[3] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Sapporo, Hokkaido, Japan

[4] Univ Tsukuba, Inst Clin Med, Dept Dermatol, Tsukuba, Ibaraki 305, Japan

[5] Gunma Univ, Sch Med, Dept Dermatol, Maebashi, Gumma 371, Japan

[6] Semboku Kumiai Gen Hosp, Dept Dermatol, Ohmagari, Japan

[7] Natl Kokura Hosp, Dept Dermatol, Kitakyushu, Fukuoka, Japan

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2003年 / 120卷 / 05期

关键词：

Japanese albino; OCA2; melanin;

D O I：

10.1046/j.1523-1747.2003.12127.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G >A, IVS24-1 G > C). One of them, R10W, was within the putative signal peptide at the N-terminal of the P protein. This is the first report on the frequency of OCA2 in the Japanese albino population.

引用

页码：781 / 783

页数：3

共 24 条

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