Figure 1.

Southern blot analysis of RCCX module in two representative patients and their respective parents. A: Schematic of a typical RCCX bimodule allele. Dashed boxes denote pseudogenes; short vertical lines, TaqI restriction sites; numbers, fragment sizes (in kb). B and C: TaqI and PshAI Southern blots. Enzyme digested fragments with size (in kb) correspond to target gene(s). D: Densitometric ratios were measured in Southern blots. The ratios indicate gene dosages, which can be used to infer gene arrangement. Columns 1 and 1F represent patient 1 and the father, respectively; columns 2, 2M, and 2F represent patient 2, the mother, and the father, respectively.