Fig. 2.

Segregation of LPL mutations in index family. Pedigree structure and DNA sequence electropherogram tracings of the LPL gene in the vicinity of codons 215 and 240 for each family member are shown. Three letter nucleotide sequences, single letter amino acid codes, and codon numbers corresponding to amino acid residues are indicated. Asterisks show heterozygosity at the specific amino acid position: the father is a simple heterozygote for the p.Q240H mutation, the mother is a simple heterozygote for the p.G215E mutation and the proband is a compound heterozygote for both mutations