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| A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P |
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| Author(s): CAMUZAT A, DOLLFUS H, ROZET JM, GERBER S, BONNEAU D, BONNEMAISON M, BRIARD ML, DUFIER JL, GHAZI I, LEOWSKI C, WEISSENBACH J, FREZAL J, MUNNICH A, KAPLAN J |
| Source: HUMAN MOLECULAR GENETICS Volume: 4 Issue: 8 Pages: 1447-1452 Published: AUG 1995 |
| Times Cited: 40 References: 39 |
| Abstract: Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness, It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies, Here we report the first mapping of a gene for LCA to the distal short arm of chromosome 17 by linkage analysis in 15 multiplex families (Z(max) = 5.14 at theta = 0.15 for probe AFM070xg5 at the D17S1353 locus). When our sample was split into two groups according to the ethnic origin of the patients we were able to confirm the presence of a gene for LCA on chromosome 17p by both homozygosity mapping and linkage analysis in five families of Maghrebian origin (LCA1, Z(max) = 7.21 at theta = 0.01 at the D17S1353 locus), while negative results were found in 10 families of French ancestry, Haplotype analyses supported the placement of LCA1 between loci D17S796 and D17S786 (maximum likelihood estimate for location of the disease gene over the D17S1353 locus). The genetic heterogeneity of LCA will complicate the prenatal detection of this frequent cause of congenital blindness. |
| Document Type: Article |
| Language: English |
Addresses:
1. HOP NECKER ENFANTS MALAD, SERV GENET, F-75743 PARIS 15, FRANCE
2. HOP NECKER ENFANTS MALAD, INSERM, U393, UNITE RECH HANDICAPS GENET ENFANT, F-75743 PARIS 15, FRANCE
3. INST NATL JEUNES AVEUGLES, F-75015 PARIS, FRANCE
4. HOP LAENNEC, SERV OPHTALMOL, F-75007 PARIS, FRANCE
5. GENETHON, F-91002 EVRY, FRANCE |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: RM340 |
| ISSN: 0964-6906 |
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