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Pregled bibliografske jedinice broj: 172618

Zbornik radova

Autori: Jelušić, Marija; Malčić, Ivan; Jurak, I; Miličić, D; Pavelić, Krešimir; Gall-Trošelj, Koraljka
Naslov: Molecular-genetic analysis of beta myosin heavy chain gene (MYH7) in Croatian patients with hypertrophic cardiomyopathy
Izvornik: 5th Congress of the Croatian Cardiac Society, book of abstract
Skup: 5th Congress of the Croatian Cardiac Society
Mjesto i datum: Opatija, Hrvatska, 16-19.05.2004.
Ključne riječi: hypertrophic cardiomyopathy; beta-myosin heavy chain gene; mutation
Sažetak:
Hypertrophic cardiomiopathy (HCM) is a genetically and clinically heterogeneous myocardial disease that is, in most of cases, familial and transmitted in a dominant fashion. More than 150 different mutations in 10 genes have been described. The most frequently affected gene, MYH 7, codes beta-myosin heavy chain and was analysed in two groups of patients. The first (I) group consisted of 6 patients (3 females and 3 males, median age at the time of diagnosis 10.8 years) with positive family history. The second (II) group also consisted of 6 patients (2 females and 4 males, median age at the time of diagnosis 9.6 years) with no positive family history. Mutation analysis was carried out for exons 8, 9, 13, 15, 16, 19, 20 and 23 on DNA extracted from the whole blood samples. Fourty mutations have been analysed in these regions (37 substitutions, 2 deletions and 1 insertion). The methods used in this study were mutation specific restriction enzyme assays and DNA sequencing. No mutation has been found. On the basis of these results we can conclude that, in Croatian population, mutations in MYH 7 do not contribute to HCM frequentely.
Vrsta sudjelovanja: Ostalo
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Domaća recenzija
Projekt / tema: 0108173
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
Kliničke medicinske znanosti



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