Αναζήτηση σημειακών μεταλλάξεων στο γονίδιο του B/E LDL υποδοχέα και στο γονίδιο της ApoB σε μέλη οικογένειας με υπερχοληστερολαιμία
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Autore
Στακιάς, ΝικόλαοςSupervisor name
Κουκούλης, Γεώργιος
Data
2002Language
el
Access
free
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.
Academic publisher
Πανεπιστήμιο Θεσσαλίας. Πρόγραμμα Σπουδών Επιλογής. Τμήμα Ιατρικής Βιοχημείας.