PCR analysis of the macroglycopeptide region of the GPIBA gene in 5 members of the PT-VWD family. (A) Schematic of macroglycopeptide region amplified in the PCR showing the position of the 27-bp deletion relative to the VNTR region (1 copy D allele). (B) Gel electrophoresis of PCR products from amplification of the macroglycopeptide region. A 100-bp ladder (200, 300, 400, 500, and 600 bp) is shown in lane 1. C1 is a normal control, homozygous for VNTR D allele (single 320-bp band). C2 is a normal control, homozygous for VNTR C allele (single 359-bp band). P, M, and D are the propositus, mother, and daughter, respectively, each with 2 bands representing the normal C allele (359 bp) and the C allele with the accompanying 27-bp deletion (332 bp). S and H refer to the healthy son and healthy husband, respectively, both of whom are homozygous for VNTR C allele and show a single 359-bp band.