Figure S1 Region of Linkage Disequilibrium on Chromosome 18q 21-22 The two sibships with affected individuals from this kindred are shown. Haplotypes from SNP_A1953510 (at base number 47148674) to SNP_A2220855 (at base number 55217162) are indicated below each individual respectively. SNP variants are designated as A versus B. M indicates “matched region of homozygosity” that spans from SNP_A-2115933 (on chromosome 18 at base number 47223514) to SNP_A1822788 (on chromosome 18 at base number 55071538). Lower case genotype designations indicate a haplotype likely originating from an ancestral chromosome.


Figure S2 Sequence chromatograms illustrating a four nucleotide deletion in ATP8B1 gene from the patient cDNA. A fragment spanning from exon 15 to exon 17 of ATP8B1 was amplified from cDNA derived from control and patient EBV transformed B-lymphocytes. The resulting fragment was sequenced and aligned to the reference sequence, NM_005603.4. The section containing the deletion is shown here. The control sequence (middle) aligned to the reference sequence (top), while the sequence obtained from the patient sample (bottom) showed a four nucleotide deletion at the start of exon 16. 254 × 190 mm (96 × 96 DPI).


Table S1 PCR primers for sequencing ATP8B1.

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