AUTOSOMAL RECESSIVE OCULAR ALBINISM ASSOCIATED WITH A FUNCTIONALLY SIGNIFICANT TYROSINASE GENE POLYMORPHISM

被引：59

作者：

FUKAI, K

HOLMES, SA

LUCCHESE, NJ

SIU, VM

WELEBER, RG

SCHNUR, RE

SPRITZ, RA

机构：

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

[2] UNIV WISCONSIN,DEPT PEDIAT,MADISON,WI 53706

[3] DAVIS DUEHR EYE ASSOCIATES,MADISON,WI 53715

[4] UNIV WESTERN ONTARIO,DEPT PEDIAT,LONDON,ON N6A 3K7,CANADA

[5] OREGON HLTH SCI UNIV,DEPT OPHTHALMOL & MOLEC & MED GENET,PORTLAND,OR 97201

[6] CHILDRENS HOSP PHILADELPHIA,DEPT PEDIAT,PHILADELPHIA,PA 19104

[7] CHILDRENS HOSP PHILADELPHIA,DEPT HUMAN GENET,PHILADELPHIA,PA 19104

来源：

NATURE GENETICS | 1995年 / 9卷 / 01期

关键词：

D O I：

10.1038/ng0195-92

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, Arg402Gln, which results in a tyrosinase polypeptide with reduced thermal stability. In these patients, AROA thus appears to represent a clinically mild form of OCA1, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally.

引用

页码：92 / 95

页数：4