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

共 21 条

[1] GIEBEL L, 1990, IN PRESS NUCLEIC ACI
[2] TYROSINASE ACTIVITY AND ABUNDANCE IN CLOUDMAN MELANOMA-CELLS
HALABAN, R
POMERANTZ, SH
MARSHALL, S
LERNER, AB
[J]. ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1984, 230 (01) : 383 - 387
[3] HU F, 1980, AM J HUM GENET, V32, P387
[4] HAIRBULB TYROSINASE ACTIVITY IN OCULOCUTANEOUS ALBINISM - SUGGESTIONS FOR PATHWAY CONTROL AND BLOCK LOCATION
KING, RA
OLDS, DP
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (01): : 49 - 55
[5] ALBINISM
KING, RA
SUMMERS, CG
[J]. DERMATOLOGIC CLINICS, 1988, 6 (02) : 217 - 228
[6] ISOLATION AND SEQUENCE OF A CDNA CLONE FOR HUMAN TYROSINASE THAT MAPS AT THE MOUSE C-ALBINO LOCUS
KWON, BS
HAQ, AK
POMERANTZ, SH
HALABAN, R
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (21) : 7473 - 7477
[7] BIOCHEMISTRY OF MELANIN FORMATION
LERNER, AB
FITZPATRICK, TB
[J]. PHYSIOLOGICAL REVIEWS, 1950, 30 (01) : 91 - 126
[8] MUELLER G, 1988, EMBO (European Molecular Biology Organization) Journal, V7, P2723
[9] PARTICULATE TYROSINASE OF HUMAN MALIGNANT-MELANOMA - SOLUBILIZATION, PURIFICATION FOLLOWING TRYPSIN TREATMENT, AND CHARACTERIZATION
NISHIOKA, K
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1978, 85 (01): : 137 - 146
[10] OTT J, 1974, AM J HUM GENET, V26, P588

← 1 2 3 →