Journal of the American Society of Nephrology · 2003 · 12 citations · 16 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsGene MappingGenetic DisordersGenetic Fine-mappingGenetic MappingNephrotic SyndromeRenal DiseaseDeafness IdentificationHomozygosity MappingLod Score AnalysisLod Score CalculationMolecular Basis Of InheritanceMultipoint Linkage AnalysisNephrotic Syndrome In ChildhoodSteroid-resistant Nephrotic Syndrome
Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS has opened the first insights into the understanding of its pathogenesis. This study reports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafness and detection of a region of homozygosity on chromosome 14q24.2. Multipoint analysis of 12 markers used for further fine mapping resulted in a LOD score Z(max) of 4.12 (theta = 0) for marker D14S1025 and a two-point LOD score of Z(max) = 3.46 (theta = 0) for marker D14S77. Lack of homozygosity defined D14S1065 and D14S273 as flanking markers to a 10.7 cM interval. The identification of the responsible gene will provide new insights into the molecular basis of nephrotic syndrome and sensorineural deafness.
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A comprehensive genetic map of the human genome based on 5,264 microsatellites
Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations
Easy calculations of lod scores and genetic risks on small computers.
G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations