Figure 2.
Myeloid-restricted expression of the Δ319 G-CSFR mutant. (A) Location of primers for analysis of genomic and cDNA. The G-CSFR intron-exon structure is shown with the locations of the primers used in panel B for PCR amplification. (B) Analysis of genomic and cDNA from patient and parent cells. The 1039-bp and 332-bp products correspond to the WT and Δ319 G-CSFR forms, respectively, obtained with genomic DNA. Amplification with cDNA yields 398-bp and 207-bp products corresponding to the WT and Δ319 G-CSFR, respectively. (Lane 1) Water (negative control); (lanes 2,3) plasmid DNA from Δ319 and WT clones; (lane 4) DNA from patient's fibroblasts showing only the WT G-CSFR; (lane 5) cDNA from patient's neutrophils; (lanes 6,7) genomic DNA from both parents); and (lane 8) genomic DNA from unrelated donor.

Myeloid-restricted expression of the Δ319 G-CSFR mutant. (A) Location of primers for analysis of genomic and cDNA. The G-CSFR intron-exon structure is shown with the locations of the primers used in panel B for PCR amplification. (B) Analysis of genomic and cDNA from patient and parent cells. The 1039-bp and 332-bp products correspond to the WT and Δ319 G-CSFR forms, respectively, obtained with genomic DNA. Amplification with cDNA yields 398-bp and 207-bp products corresponding to the WT and Δ319 G-CSFR, respectively. (Lane 1) Water (negative control); (lanes 2,3) plasmid DNA from Δ319 and WT clones; (lane 4) DNA from patient's fibroblasts showing only the WT G-CSFR; (lane 5) cDNA from patient's neutrophils; (lanes 6,7) genomic DNA from both parents); and (lane 8) genomic DNA from unrelated donor.

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