Fig. 4.

Identified single nucleotide polymorphisms (SNPs) of ABCD2, ABCD3, and ABCD4 (upper panel). Comprehensive resequencing of ABCD2, ABCD3, and ABCD4 genes of the 40 patients with adrenoleukodystrophy (ALD) revealed two novel SNPs, nine SNPs (six known and three novel SNPs), and 13 SNPs (seven known and six novel SNPs), respectively. Red characters indicate the novel SNPs, blue characters indicate the SNPs identified in the coding region, and black characters indicate the SNPs identified in the noncoding region. Linkage disequilibrium (LD) map of SNPs of ABCD4 in Japanese patients with ALD and the controls using the Haploview version 4.1 (lower panel). The five known SNPs (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801) were in complete disequilibrium in Japanese patients with ALD and the controls (LOD = 43.97, r ² = 1.0, D′ = 1.0). Novel SNP7 and the five known SNPs (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801) were not in strong disequilibrium in Japanese patients with ALD and the controls (LOD = 1.15, r ² = 0.037, D′ = 0.706), although novel SNP7 and the five known SNPs (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801) were strong disequilibrium only in Japanese patients with ALD (LOD = 2.02, r ² = 0.221, D′ = 1.0). The number in the box indicates the data of D′. The color of the box is determined from the LOD score and D′. The block was determined using a confidence interval algorithm [33]