A FREQUENT TYROSINASE GENE MUTATION IN CLASSIC, TYROSINASE-NEGATIVE (TYPE-IA) OCULOCUTANEOUS ALBINISM

被引：71

作者：

GIEBEL, LB

STRUNK, KM

KING, RA

HANIFIN, JM

SPRITZ, RA

机构：

[1] UNIV WISCONSIN,DEPT MED GENET,GENET LAB 309,MADISON,WI 53706

[2] UNIV WISCONSIN,DEPT PEDIAT,GENET LAB 309,MADISON,WI 53706

[3] UNIV MINNESOTA,DEPT MED,MINNEAPOLIS,MN 55455

[4] UNIV MINNESOTA,INST HUMAN GENET,MINNEAPOLIS,MN 55455

[5] OREGON HLTH SCI UNIV,DEPT DERMATOL,PORTLAND,OR 97201

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1990年 / 87卷 / 09期

关键词：

Albino; Melanin; Pigment disorders;

D O I：

10.1073/pnas.87.9.3255

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline → leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.

引用

页码：3255 / 3258

页数：4