Deletion of

I gene in the i member of pedigree C. (A) Pedigree drawing. A sample from C-5 was unavailable in the current study; however, she had been shown to have common I phenotype previously.27 The parents were first cousins. (B) RT-PCR for I cDNA. The expected size of the RT-PCR product ofI cDNA is 1361 bp. Lane M shows the molecular mass standards of the 100-bp ladder. (C) PCR amplifications for the 3 exon regions of the I gene. PCR amplifications for the DNA segments, including I exon 1 (1118 bp), I exon 2 (189 bp), and I exon 3 (321 bp), and C2GnT-M gene (1459 bp), which served as control, were performed separately, and then the 4 products from each person's sample were analyzed in the same lane.