Figure 1.

(A) Sequence data from PCR products of normal control genomic DNA (top) and SGD patient DNA (bottom). Sequencing was performed on three separate PCRs from the SGD patient and three normal controls. Color coding of nucleotides on sequence scan is red, T; green, A; black, G; blue, C. Underlined nucleotides, 5-bp deletion. Arrowhead, location of deletion in the SGD patient sequence. Schematic drawing of C/EBPε locus shows three exons; two alternative promoters, Pα and Pβ; translational start codons; and bZIP region. (B) Schematic drawing of the three human C/EBPε protein isoforms. Second drawing (from top) shows the C/EBPε³²-SGD isoform with predicted missense region and premature termination codon occurring after the arrowhead. (C) PCR products after liquid hybridization of DNA region containing 5-bp deletion. Lanes 1 and 2, normal controls. Lane 4, patient DNA. Lane 3, PCR products from normal control DNA mixed equimolar with patient DNA. Arrowheads indicate normal allele (top) and SGD allele (bottom). Over 30 normal controls were tested.