Naslov
Molecular-genetic analysis of beta myosin heavy chain gene (MYH7) in Croatian patients with hypertrophic cardiomyopathy

Autori
Jelušić, Marija ; Malčić, Ivan ; Jurak, I ; Miličić, D ; Pavelić, Krešimir ; Gall-Trošelj, Koraljka

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

Izvornik
5th Congress of the Croatian Cardiac Society, book of abstract / - , 2004

Skup
5th Congress of the Croatian Cardiac Society

Mjesto i datum
Opatija, Hrvatska, 16.05.2004. - 19.05.2004

Vrsta sudjelovanja
Ostalo

Vrsta recenzije
Domaća recenzija

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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA