Figure 2.

SNP-Array Genotyping and Mutation Detection in the Swedish Families

Pedigrees and electropherograms of the ISCU mutation (g.7044 G→C) in the three families from northern Sweden, and SNP alleles flanking the ISCU gene. The positions of the SNP markers on chromosome 12 are indicated in Mb, with the corresponding alleles designated by A and B. AA or BB indicates that the proband is homozygous for SNP markers that surround the ISCU gene (the position is shown by an arrow). Double-headed arrows indicate a long stretch of homozygous markers. All patients share the same homozygous haplotype (highlighted in blue), consistent with a common origin.