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. 2018 Dec 11;9(97):36929–36944. doi: 10.18632/oncotarget.26405

Figure 4. Results of the SNP array on chromosome 6 and the HLA Sanger sequencing of the patient 22.

Figure 4

(A) and (B) See Figure 1 footnotes for the interpretation of SNP array plots. Black points in SNP array plots show the position of the HLA-B locus in chromosome 6. A terminal deletion of 36 Mb (outlined in red) that involve HLA loci in CD34+ cells is detected. (C) and (D) These plots are an amplification of 6p21 region that involves the HLA-B locus region (red line), showing the frequency of the B allele in CD3+ control cells (C) and CD34+ cells (D). SNP array results indicate a homozygosity pattern (genotypes AA=1 and BB=1) in the CD34+ fraction. (E) and (F) Log2ratio at 0 indicates no copy number alteration and therefore a CN-LOH in CD34+ cells. (G) and (H) Fragment of the sequencing electropherogram of exon 3 (codon 151 to codon 157) of HLA-B locus. In CD34+ cells (H), a loss of heterozygosity in polymorphic positions (red stars) in exon 3 is observed in comparison to CD3+ cells (G). The nucleotide sequence lost in CD34+ cells corresponds to the HLA-B*07:02 allele, while the HLA-B*38:01 allele is retained (Red).