Naslov
Detection of LDL-receptor gene mutation causing familial hypercholesterolemia in Croatia

Autori
Zrinski Topić, Renata ; Ferenčak, Goran ; Sučić, Mate ; Stavljenić-Rukavina, Ana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Clin Chem Lab Med / - , 2001, S318-S318

Skup
14th Ifcc-FESCC European congress of clinical chemistry and laboratory medicine

Mjesto i datum
Prag, Češka Republika, 26.05.2001. - 31.05.2001

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
familial hypercholesterolemia ; LDL-receptor

Sažetak
Familial hypercholesterolemia (FH) is a monogenic, autosomal dominant disease caused by functional mutation in the low density lipoprotein (LDL) receptor gene. This work presents a part of systematic study of molecular basis of hypercholesterolemia in Croatia. The study included 420 hypercholesterolemic subjects with total cholesterol and LDl-cholesterol values of more than 6, 7 mmol/L and more than 4, 9 mmol/L, respectively, and an equal number of healthy controls. The presence of molecular changes in exon 4 of the LDL-receptor gene was examined by the single strand conformation polymorphism (PCR-SSCP) method and direct automated sequencing and was confirmed by restriction fragment length polymorphism (PCR-RFLP) method. Mutation C127R was identified in one patient and has not been reported previously. It caused conformational changes of the ligand binding domain of the LDL-receptor and was dimished receptor activity, too. Mutation D200G was identified in two patients and was previously described as FH-Padova. In addition to clinical application, results of this study contribute to establishment of the gene map of risk factors for atherosclerosis in Croatia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA