Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2Reportar como inadecuado




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Macular Telangiectasia type 2 MacTel is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals including 45 affected or possibly affected were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analysis identified a single peak with multi-point LOD score of 3.45 on chromosome 1 at 1q41-42 under a dominant model. Recombination mapping defined a minimal candidate region of 15.6 Mb, from 214.32 rs1579634; 219.96 cM to 229.92 Mb rs7542797; 235.07 cM, encompassing the 1q41-42 linkage peak. Sanger sequencing of the top 14 positional candidates genes under the linkage peak revealed no causal variants in these pedigrees.



Autor: Nancy L. Parmalee, Carl Schubert, Maria Figueroa, Alan C. Bird, Tunde Peto, Mark C. Gillies, Paul S. Bernstein, Krzysztof Kiryluk

Fuente: http://plos.srce.hr/



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