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Figure 2 | BMC Medical Genetics

Figure 2

From: Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia

Figure 2

Detection of mutation Q12X in the LDL receptor gene by means of Mae I restriction enzyme test. Transition c.97 C>T in exon 2 of the LDL receptor gene leads to appearance of the new Mae I restriction site (CTAG) in the patients with the mutation. Mae I restriction enzyme test enables to confirm the presence of mutation Q12X identified by DNA sequencing in the proband (12-1) and in her son (12-2) and to exclude presence of the mutation in other relatives of the proband, including daughter (12-4) and grandchildren (12-3 and 12-5). Lengths of DNA restriction fragment are given at the left in bp and *total blood serum cholesterol figures of the patients – at the bottom of the gel in mg/dl.

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BMC Medical Genetics

ISSN: 1471-2350

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