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Figure 3 | BMC Medical Genetics

Figure 3

From: Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

Figure 3

Assay to detect the exon 7 – 8 deletion. The pedigree illustrates the five individuals available (ID03, ID01, ID04, ID07 and ID08). Symbols with two black triangles represent individuals with hyperlipidemia and coronary artery disease (CAD), while open symbols represent individuals with normal lipid values and no CAD symptoms. The index patient ID01 is marked with an arrow. The left lane of the gel is a size marker, while the following lanes are the result of the duplex PCR of the individual above. In the normal individuals ID03 and ID08, only one fragment of 1.1 kb is amplified, indicating homozygosity for the normal allele. In the affected individiuals ID01, ID04 and ID07 two fragments of 1.6 and 1.1 kb is amplified, indicating heterozygosity for the mutation represented by the 1.6 kb fragment.

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BMC Medical Genetics

ISSN: 1471-2350

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