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. 2015 May 29;11(5):e1005255. doi: 10.1371/journal.pgen.1005255

Fig 4. Detection of a rare CD177 nucleotide deletion mutation.

Fig 4

A). Sequencing analysis of cDNA clones from two HNA-2 deficient donors who were heterozygous for the SNP 829A>T. The upper tracer is the wild-type (997G allele) CD177 cDNA clone sequence. The wild-type 997G allele is in linkage disequilibrium with SNP 829T (or STP) allele as demonstrated by the sequence of cDNA clones from two HNA-2 deficient donors. The lower tracer is the sequence of CD177 cDNA clone with 997G deletion (designated as 997ΔG) that is in linkage disequilibrium with SNP 829A allele (or ORF) in CD177 cDNA clones. Those two ORF/STP heterozygous donors manifested as HNA-2 deficient phenotype had the combination of one chromosome carrying 997G deletion (997ΔG) and the other carrying the 829T (STP) allele. B). Genomic DNA sequence analysis confirmed that the guanidine nucleotide deletion occurs at genomic level. The upper tracer shows the wild-type genomic DNA sequence with the 997G. The lower tracer is the CD177 genomic sequence of a heterozygous donor with one chromosome containing 997G deletion and the other containing the wild-type.