RHODOPSIN MUTATIONS IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA

被引：381

作者：

SUNG, CH

DAVENPORT, CM

HENNESSEY, JC

MAUMENEE, IH

JACOBSON, SG

HECKENLIVELY, JR

NOWAKOWSKI, R

FISHMAN, G

GOURAS, P

NATHANS, J

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,HOWARD HUGHES MED INST,725 N WOLFE ST,BALTIMORE,MD 21205

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT MOLEC BIOL & GENET,BALTIMORE,MD 21205

[3] JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROSCI,BALTIMORE,MD 21205

[4] NATL RETINITIS PIGMENTOSA FDN,BALTIMORE,MD 21217

[5] JOHNS HOPKINS UNIV,SCH MED,WILMER OPHTHALMOL INST,BALTIMORE,MD 21205

[6] UNIV MIAMI,SCH MED,BASCOM PALMER EYE INST,MIAMI,FL 33101

[7] UNIV CALIF LOS ANGELES,SCH MED,JULES STEIN EYE INST,LOS ANGELES,CA 90024

[8] UNIV ALABAMA,SCH OPT,BIRMINGHAM,AL 35294

[9] UNIV ILLINOIS,COLL MED,DEPT OPHTHALMOL,CHICAGO,IL 60612

[10] COLUMBIA UNIV COLL PHYS & SURG,DEPT OPHTHALMOL,NEW YORK,NY 10032

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1991年 / 88卷 / 15期

关键词：

D O I：

10.1073/pnas.88.15.6481

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：

DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.

引用

页码：6481 / 6485

页数：5

共 19 条

[1] A NOTE ON THE ACTION SPECTRUM OF HUMAN ROD VISION [J].