Αναζήτηση σημειακών μεταλλάξεων στο γονίδιο του B/E LDL υποδοχέα και στο γονίδιο της ApoB σε μέλη οικογένειας με υπερχοληστερολαιμία

Abstract

The aim of this study was to investigate the genetical causes of hypercholesterolaimia in a family with clinical and laboratory finding indicating familial disorder. To achieve that we examined 22 members of the family in which cases of familial hypercholesterolaimia had been diagnosed. For this purpose we checked the gene of the LDL receptor for point mutations in exons 2,4,9 and 11 which have been observed in the Greek population, and the gene of apoB 100 for the point mutation R3500Q. The results showed that this specific family did not have the above mutations and in order to find the cause of their hypercholesterolaimia we should further investigate their genome for other mutations.