Figure 2.

SNP-Based Genotyping of ECO-Affected Pedigree Identified a Homozygous Region in Chromosome 6p

ECO in a consanguineous Old Order Amish pedigree. The inheritance of the disease follows an autosomal-recessive mode of transmission. Affected individuals are shown as blackened squares (male) and circles (female). Diagonal lines across symbols indicate deceased individuals. A consanguineous marriage is shown by a double line between two individuals. Confirmation of autozygosity-based linkage was performed by observing the SNP-based genotyping within the candidate region on 6p12.2–p12. A portion of the homozygous region within patients is shown in boxes. The ICK variation at the coding sequence 1305 (G→A, accession number: NM_016513) that causes a R→Q change at residue 272 in the protein was analyzed (see Figure 3C for more details) and highlighted in red. Horizontal dashes above symbols indicate individuals who underwent DNA analysis, and hyphens indicate nongenotyped markers.