Identification of 4.1R HE mutations.

(A) Identification of the genomic mutations by restriction digestion. In 4.1R Fier, the deletion neither creates nor abolishes a restriction site. (A1 + Ct) and (B1 + Ct) correspond to mixtures of patient and control DNAs. The restriction map is indicated at the bottom. Ct indicates control DNAs; and Mk, size markers. All sizes are in base pairs. (B) Reticulocyte 4.1R mRNA analysis. DdeI restriction digestion of RT-PCR product in 4.1R Fier revealed a single band that corresponds to the normal allele. In 4.1R Coimbra, RT-PCR amplification yielded 2 additional bands, CO.1 and CO.2, in the affected family members.