Figure 3.
IFNA16 genetic characterization. (A) Chromosome 9 structure shows JAK2 and IFNA16 genomic regions and SNVs used for association analyses in the P value (−log10) scatter plots (n = 51). Note the stronger association of both IFNA16 SNVs compared with those of JAK2 SNVs. The accompanying linkage disequilibrium heatmap was generated by using pairwise χ2 test for 7 evaluable JAK2 SNVs or 5 evaluable IFNA SNVs (3, IFNA16; 1, IFNA17; 1, IFNA5) using the MPN genotyping data. Boxes indicate D values for SNV pairs. (B) Genomic organization of the IFN gene cluster and IFNA16 dideoxy sequence analysis delineating the 3 SNVs and their predicted translation products (all displayed 5′-3′ orientation using RefSeq NM_002173.3 as reference). For all sequences, the polymorphic transition is underscored and delineated by the asterisk. Chromosomal positions are based on National Center for Biotechnology Information Build 37 (GRCh37).

IFNA16 genetic characterization. (A) Chromosome 9 structure shows JAK2 and IFNA16 genomic regions and SNVs used for association analyses in the P value (−log10) scatter plots (n = 51). Note the stronger association of both IFNA16 SNVs compared with those of JAK2 SNVs. The accompanying linkage disequilibrium heatmap was generated by using pairwise χ2 test for 7 evaluable JAK2 SNVs or 5 evaluable IFNA SNVs (3, IFNA16; 1, IFNA17; 1, IFNA5) using the MPN genotyping data. Boxes indicate D values for SNV pairs. (B) Genomic organization of the IFN gene cluster and IFNA16 dideoxy sequence analysis delineating the 3 SNVs and their predicted translation products (all displayed 5′-3′ orientation using RefSeq NM_002173.3 as reference). For all sequences, the polymorphic transition is underscored and delineated by the asterisk. Chromosomal positions are based on National Center for Biotechnology Information Build 37 (GRCh37).

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