Figure 1.

Pedigrees of five individuals from four Icelandic families with MCD type II, showing detected CHST6 changes and previously reported disease haplotypes between microsatellite markers D16S2624 and D16S518 in chromosome 16 (16q22). The presence or absence of the single nucleotide change c.768C>T in each haplotype is indicated. Family numbers and haplotypes are as designated in previous publications which document how the haplotypes were determined [5,6,8]. Haplotypes were not determined on all family members because of insufficient available DNA. Three haplotypes (1, 3, 5) were detected in the 5 patients with MCD type II. Haplotypes 1c and 1e are subgroups of haplotype 1, and haplotype 3a is a subgroup of haplotype 3. In the figure, N indicates a normal haplotypes in the same region, as the disease haplotypes. Filled circles show affected females, filled squares show affected males, empty circles indicate normal females, and empty squares show normal males.