Fig. 2.
Haplotype analysis for two families in which no ERGIC-53 mutation was detected. Affected individuals (shaded) in family 16, shown at the left, were determined to differ at five ERGIC-53 intragenic polymorphisms (Table 3). The + indicates the presence of the more common sequence, while the − indicates the presence of the polymorphism or rare sequence variant. Individuals in family 13, shown at the right, were genotyped for four short tandem repeat polymorphisms flanking the ERGIC-53 gene.6 9 Numbers represent basepair length of the PCR products generated with primers flanking the repeat sequence. Both parents and the affected individuals were also typed for six intragenic polymorphisms (Table 3).