Fig. 2.
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.69 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).

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).

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