Figure 2.

Combined linkage and homozygosity mapping. We performed parametric linkage analysis for a recessive trait in families 1–4 and homozygosity analysis across six selected cases. Two linked genome segments are indicated in orange and three homozygous segments with shared alleles are indicated in red. Only one region on chromosomes 38 showed both linkage and homozygosity and was considered the critical interval (arrow). Specifically, this ∼1.4 Mb region corresponded to Chr38:21,060,597–22,475,242.