Fig. 3.

Accurate disease gene localization using the Affymetrix GeneChip Mapping 10K Assay Kit and the Silicon Genetics varia software package. Mapping of the congenital nephrotic syndrome locus, maple syrup urine disease locus, and the Crigler–Najjar syndrome locus was accomplished by using minimal numbers of individuals in each pedigree. The three highest location scores across the genome are indicated for each disorder in descending order. The location score combined with physical distance was found to be the best predictor of the correct region in each case. No affected individuals were genotyped in the NPHS1 pedigree, yet it was still possible to detect the correct locus, and the inferred region of autozygosity is indicated by a green horizontal bar.