期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 69, 期 2, 页码 447-453出版社
UNIV CHICAGO PRESS
DOI: 10.1086/321975
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资金
- NIDCD NIH HHS [DC00162, DC01404] Funding Source: Medline
- NIMH NIH HHS [MH01375, K02 MH001375] Funding Source: Medline
- NINDS NIH HHS [NS37484, R01 NS037484] Funding Source: Medline
We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries. The genome search, using a high throughput capillary sequencer, revealed significant evidence of linkage to chromosome 3p21.1-p21.3 (maximum pairwise LOD score 5.25, with D3S1578). Testing of two additional families that had a similar phenotype, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke, revealed linkage to the same chromosomal region (combined maximum LOD score 6.30, with D3S1588). Haplotype analysis of all three families defined a 3-cM candidate region between D3S1578 and D3S3564. Our study shows that three autosomal dominant vasculopathy syndromes with prominent cerebroretinal manifestations map to the same 3-cM interval on 3p21, suggesting a common locus.
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