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Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p

Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p
Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p
Central areolar choroidal dystrophy (CACD) is a retinal disease which causes progressive profound loss of vision in patients during middle age. The disease is inherited as an autosomal dominant trait and shows genetic heterogeneity. Mutations in the peripherin-RDS gene on chromosome 6 have been reported in affected members of families transmitting the disease. A new locus at chromosome 17p13 was identified recently by a genome wide linkage search in members of a large Northern Irish family. We now report the refinement of the critical region for this gene to an interval of approximately 5 cM flanked by polymorphic markers D17S1810 and CHLC GATA7B03
0022-2593
770-772
Hughes, A.E.
6b38383e-90b4-4688-90fc-fa99f66ee6ea
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Silvestri, G.
b46d3c42-b47d-40e1-bfd7-c134a636849b
Hughes, A.E.
6b38383e-90b4-4688-90fc-fa99f66ee6ea
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Silvestri, G.
b46d3c42-b47d-40e1-bfd7-c134a636849b

Hughes, A.E., Lotery, A.J. and Silvestri, G. (1998) Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. Journal of Medical Genetics, 35 (9), 770-772. (doi:10.1136/jmg.35.9.770). (PMID:7695743)

Record type: Article

Abstract

Central areolar choroidal dystrophy (CACD) is a retinal disease which causes progressive profound loss of vision in patients during middle age. The disease is inherited as an autosomal dominant trait and shows genetic heterogeneity. Mutations in the peripherin-RDS gene on chromosome 6 have been reported in affected members of families transmitting the disease. A new locus at chromosome 17p13 was identified recently by a genome wide linkage search in members of a large Northern Irish family. We now report the refinement of the critical region for this gene to an interval of approximately 5 cM flanked by polymorphic markers D17S1810 and CHLC GATA7B03

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Published date: September 1998
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 359199
URI: https://eprints.soton.ac.uk/id/eprint/359199
ISSN: 0022-2593
PURE UUID: 7c02157f-c9e9-4a03-bfcf-070552e6212a
ORCID for A.J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 11 Nov 2013 13:37
Last modified: 31 Jan 2019 01:36

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