A locus for autosomal recessive achromatopsia on human chromosome 8q

Citation
A. Milunsky et al., A locus for autosomal recessive achromatopsia on human chromosome 8q, CLIN GENET, 56(1), 1999, pp. 82-85
Citations number
10
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
56
Issue
1
Year of publication
1999
Pages
82 - 85
Database
ISI
SICI code
0009-9163(199907)56:1<82:ALFARA>2.0.ZU;2-4
Abstract
Autosomal recessive achromatopsia is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and visual impairment, freque ntly leading to 'legal blindness'. The primary defect is at the photorecept or level, with retinal cones being absent or defective. The first locus for this disorder was mapped to chromosome 2q11. Here, we confirm the genetic mapping of a locus discovered in our studies of a kindred with Irish ancest ry, but no known consanguinity, in which 5 of 12 children are affected. We have mapped the locus in this disorder in this family to chromosome 8q. Ava ilable data now narrow the region containing the putative gene to 1.2 cM.