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.
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页码：3255 / 3258
页数：4
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