Gross structure of RH30 locus in the amorph Rhnull family as determined by Sph I RFLPs. (Left) Southern blot analysis of 4 members from the Rhnull family. Lane 1, D-positive; lane 2, D-negative; and lanes 3 through 6, family members II-2, II-3, III-1, and III-2, respectively. Genomic DNAs were digested with Sph I and the polymorphic regions spanning exons 4-7 are shown. Note that RhD gene bands (8.9 and 1.2 kb) are missing in II-2, II-3, and III-2, whereas the RH50 locus is grossly normal in all members (gels not shown). Size marker (in kilobases) of λ phage DNA cleaved by HindIII is indicated. (Right) Family pedigree transmitting a putative amorph Rhnull disease gene. I-1, I-2 (deceased), II-1, and II-4 were not available for molecular analyses. II-2 (propositus) and II-3 are Rhnullhomozygotes, whereas their children, III-1 and III-2, are heterozygotes. The genotype of each member was deduced from RFLP analysis and phenotyping. The amorph copy of RhCe gene on RhD deletion background is denoted by a crossed box with a vertical line.
