Pedigree and haplotype analysis of family 3. The plasma cholesterol (chol.) concentration (mmol/l) is shown below each symbol. Filled symbols, homozygous for the insC mutation in ARH1; half-filled symbols, heterozygous carriers of the mutation, confirmed by sequencing amplified fragments of genomic DNA. Haplotypes for the ARH1 locus are shown for polymorphic markers flanking the gene, known polymorphisms (8), and the two novel base substitutions within the coding region of ARH1; the position of each marker on Ensembl is shown (Mb). A recombination in the paternal uncle of the proband is indicated (X). The maternal allele carrying the insC₆₂₀ mutation is boxed; the paternal allele carrying the putative deletion is boxed and shaded. The haplotype in the father, shown in italics, was deduced. Individuals whose cells were analyzed for LDL receptor activity or ARH1 mRNA levels are identified by a number in italics.