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Pregled bibliografske jedinice broj: 170669

Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients


Zrinski Topić, Renata; Gornik, Olga; Flögel, Mirna; Sertić, Jadranka; Stavljenić Rukavina, Ana
Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients // Periodicum biologorum, 106 (2004), 3; 295-299 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 170669 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients

Autori
Zrinski Topić, Renata ; Gornik, Olga ; Flögel, Mirna ; Sertić, Jadranka ; Stavljenić Rukavina, Ana

Izvornik
Periodicum biologorum (0031-5362) 106 (2004), 3; 295-299

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
hypercholesterolemia ; low density lipoprotein receptor ; mutations ; single-strand conformation polymorphism

Sažetak
Mutations in the LDL-receptor gene cause a marked elevation of plasma cholesterol, in particular of the LDL subfraction, and the clinical phenotype of familial hypercholesterolemia. Mutation analysis was performed in 127 hypercholesterolemic patients from Zagreb. The promoter region and all 18 exons of the LDL-receptor gene were screened using single-strand conformation polymorphism method. The molecular defects detected were then characterized by direct sequencing. Nucleotide changes were detected in 9.4% patients with hypercholesterolemia. About five different mutations in the low-density lipoprotein receptor gene were identified in 12 patients. Four missense mutations (C6W, C127R, D200G and S265T) were located in ligand binding domain and one (G457R) was located in the epidermal growth factor precursor homology domain. One of these mutations, C127R (FH Zagreb), has not been described before in any other population. Five genetic polymorphisms (C6C, A370T, R450R, N570N and V632V) were detected in other. Knowledge of genetic basis of hypercholesterolemia may contribute to designing a specific diagnostic analysis scheme. Therefore, for molecular diagnosis of familial hypercholesterolemia in Croatia, the whole low density lipoprotein receptor gene of each patient must be screened for new and recurrent mutations.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
0108247
0006611

Ustanove:
Medicinski fakultet, Zagreb,
Sveučilište Libertas

Citiraj ovu publikaciju

Zrinski Topić, Renata; Gornik, Olga; Flögel, Mirna; Sertić, Jadranka; Stavljenić Rukavina, Ana
Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients // Periodicum biologorum, 106 (2004), 3; 295-299 (međunarodna recenzija, članak, znanstveni)
Zrinski Topić, R., Gornik, O., Flögel, M., Sertić, J. & Stavljenić Rukavina, A. (2004) Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients. Periodicum biologorum, 106 (3), 295-299.
@article{article, year = {2004}, pages = {295-299}, keywords = {hypercholesterolemia, low density lipoprotein receptor, mutations, single-strand conformation polymorphism}, journal = {Periodicum biologorum}, volume = {106}, number = {3}, issn = {0031-5362}, title = {Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients}, keyword = {hypercholesterolemia, low density lipoprotein receptor, mutations, single-strand conformation polymorphism} }
@article{article, year = {2004}, pages = {295-299}, keywords = {hypercholesterolemia, low density lipoprotein receptor, mutations, single-strand conformation polymorphism}, journal = {Periodicum biologorum}, volume = {106}, number = {3}, issn = {0031-5362}, title = {Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients}, keyword = {hypercholesterolemia, low density lipoprotein receptor, mutations, single-strand conformation polymorphism} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus





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