Figure 2

The nuclear trios division and haplotype sharing analysis. (A) The family is divided into three nuclear trios (father, F; mother, M; child, C). Parental haplotypes are then deduced from the genotype data of these trios. The one co-segregating with the disease is named as an aHap (affected haplotype) and submitted into homozygosity analysis. (B) A windows slides along the whole genome to determine homozygous fragments. LOD scores are calculated using homozygous aHap regions as markers. Bars represent chromosomes; the black region is the causal mutation of the disease; red crossovers between parental chromosomes denote recombination events; the designed affected status is shown by filled circles/boxes for affected and open circles/boxes for unaffected.