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. 2013 Jan 10;92(1):28–40. doi: 10.1016/j.ajhg.2012.11.013

Figure 1.

Figure 1

Copy-Number Variation at the FCGR Locus

(A) Arrangement of FCGR genes across the FCGR2/FCGR3 cluster on chromosome one. Black bars below the gene loci indicate proximal and distal regions of paralogy.

(B) CGH array data showing the deletion of FCGR3B and surrounding area. Probe design based on NCBI assembly version 35 (hg17).

(C) Pulsed field gel electrophoresis and Southern blotting with FCGR2 and FCGR3 probes of PmeI digested genomic DNA from individuals with different FCRGR3B copy number. Copy number refers to the number of FCGR3B containing haplotyptes. In two-copy individuals with FCGR3B present on both chromosomes, a band of size 267 kb is detected representing the FCGR3B containing haplotype. The presence of a smaller-size band (182 kb) in individuals with one or both copies of FCGR3B missing, which is not detected in two-copy individuals, indicates the loss of an ∼85 kb region of genomic DNA on FCGR3B-deleted haplotypes.