ArticleJournal of medical genetics1997
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Pseudocoloboma-like maculopathy with biallelicJournal of medical genetics · 2023Article
- Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Scientific reports · 2017Article
- North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.Ophthalmology · 2016Article
- Clinical characterization and genetic mapping of North Carolina macular dystrophy.Vision research · 2008Article
- A novel locus for Leber congenital amaurosis maps to chromosome 6q.American journal of human genetics · 2000Article
- Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).Journal of medical genetics · 1998Article
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8 authors.
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Abstract
Autosomal dominant North Carolina macular dystrophy (NCMD) or central areolar pigment epithelial dystrophy (CAPED) is an allelic disorder that maps to an approximately 7.2 cM interval between DNA markers at D6S424 and D6S1671 on 6q14-q16.2. The further refinement of the disease locus has been hindered by the lack of additional recombination events involving the critical region. In this study, we have identified three multigeneration families of German descent who express the NCMD phenotype. Genotyping was carried out with a series of markers spanning approximately 53 cM around the NCMD locus, MCDR1. Genetic linkage between the markers and the disease phenotype in each of the families could be shown. Disease associated haplotypes were constructed and provide evidence for an ancestral founder for the German NCMD families. This haplotype analysis suggests that a 4.0 cM interval flanked by markers at D6S249 and D6S475 harbours the gene causing NCMD, facilitating further positional cloning approaches.
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