A GENE FOR STARGARDTS-DISEASE (FUNDUS-FLAVIMACULATUS) MAPS TO THE SHORT ARM OF CHROMOSOME-1

被引：138

作者：

KAPLAN, J

GERBER, S

LARGETPIET, D

ROZET, JM

DOLLFUS, H

DUFIER, JL

ODENT, S

POSTELVINAY, A

JANIN, N

BRIARD, ML

FREZAL, J

MUNNICH, A

机构：

[1] INST GUSTAVE ROUSSY,CONSULTAT GENET,F-94805 VILLEJUIF,FRANCE

[2] HOP NECKER ENFANTS MALAD,INSERM,UNITE RECH HANDICAPS GENET ENFANT,U12,F-75743 PARIS 15,FRANCE

[3] HOP NECKER ENFANTS MALAD,SERV OPHTHALMOL,F-75743 PARIS 15,FRANCE

[4] UNIV RENNES,F-35056 RENNES,FRANCE

[5] CHR RENNES,F-35056 RENNES,FRANCE

[6] CTR DEPT TROUBLES AUDIT & VIS ENFANTS,F-93200 ST DENIS,FRANCE

来源：

NATURE GENETICS | 1993年 / 5卷 / 03期

关键词：

D O I：

10.1038/ng1193-308

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.

引用

页码：308 / 311

页数：4

共 32 条

[21] CENTRAL PERIPHERAL RETINA IN MACULAR DEGENERATIONS - INVOLVEMENT AS REFLECTED BY ELECTRORETINOGRAM [J].