Figure 3
Figure 3. The 3-bp deletion in the HMP on chromosome 6q23. (A) Upper figure: Chromosome 6q23 HMIP is adapted from Thein et al.2 The 3 SNPs shown represent those with the strongest association signal in different studies: rs9399137,5,10,19 rs4895441,6,10 and rs9402686.19 Below are shown nucleotide sequences between chromosome 6: 135 460 308 to 135 460 368 bp, and transcription factor binding motifs: a, sequences with the rs7775698 major allele C in red; b, sequences with the rs7775698 minor allele T in red; and c, sequences with the 3-bp deletion. Yellow represents sequence that is the TAL1/SCL and E47 binding motif; gray, the GATA binding motif; and blue, the RUNX1 binding motif. The locations of the 4 SNPs on chromosome 6 are shown on the lower left hand corner. (B) Upper figure: Nucleotide sequences surrounding rs7775698 in a Chinese β-thalassemia heterozygote who is homozygous for the rs9399137 major allele, T/T. This person is also homozygous for having intact TAC without deletion. Lower figure: Nucleotide sequences surrounding rs7775698 in a Chinese β-thalassemia heterozygote who is homozygous for the rs9399137 minor allele, C/C. This person is also homozygous for the TAC 3-bp deletion.

The 3-bp deletion in the HMP on chromosome 6q23. (A) Upper figure: Chromosome 6q23 HMIP is adapted from Thein et al. The 3 SNPs shown represent those with the strongest association signal in different studies: rs9399137,5,10,19  rs4895441,6,10  and rs9402686.19  Below are shown nucleotide sequences between chromosome 6: 135 460 308 to 135 460 368 bp, and transcription factor binding motifs: a, sequences with the rs7775698 major allele C in red; b, sequences with the rs7775698 minor allele T in red; and c, sequences with the 3-bp deletion. Yellow represents sequence that is the TAL1/SCL and E47 binding motif; gray, the GATA binding motif; and blue, the RUNX1 binding motif. The locations of the 4 SNPs on chromosome 6 are shown on the lower left hand corner. (B) Upper figure: Nucleotide sequences surrounding rs7775698 in a Chinese β-thalassemia heterozygote who is homozygous for the rs9399137 major allele, T/T. This person is also homozygous for having intact TAC without deletion. Lower figure: Nucleotide sequences surrounding rs7775698 in a Chinese β-thalassemia heterozygote who is homozygous for the rs9399137 minor allele, C/C. This person is also homozygous for the TAC 3-bp deletion.

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