Fig. 4

DNA sequencing results and the pedigree chart of the patient (proband) and family members. Shown here are sequencing histograms of the wild-type (a) and low-density lipoprotein receptor (LDLR) mutation DNA. Nucleotide CC at position 126 of exon 2 in the wild-type (arrow in a) had mutated to homozygous state nucleotide AA (arrow in b) and heterozygous state nucleotide CA (arrow in c). Based on the DNA sequencing results, a pedigree chart was established (d). Unfilled circle indicates a healthy female; gray square indicate a heterozygote male; gray circles indicate heterozygote females; black square indicates homozygous male; black circles indicate heterozygote females. The black arrow indicates the proband