Naslov
PCR-RFLP genotyping of two beta-fibrinogen gene polymorphisms

Autori
Begonja, Antonija ; Topić, Elizabeta ; Šimundić, Ana-Maria ; Štefanović, Mario

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

Izvornik
1st Croatian Congress of Molecular Life Sciences, Book of abstracts / Dumić, Jerka et al. - Zagreb : Farmaceutsko-biokemijski fakultet Sveučilišta u Zagrebu, 2002

Skup
1st Croatian Congress of Molecular Life Sciences with international particpation

Mjesto i datum
Opatija, Hrvatska, 09.06.2002. - 13.06.2002

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
PCR-RFLP; beta-fibrinogen gene polymorphisms

Sažetak
Functional sequence changes in promoter of a gene may have a direct effect on the rate of transcriptional and thus on plasma levels of the protein. Several common polymorphisms in the beta-fibrinogen gene have been identified that affect fibrinogen concentrations. Since elevated plasma fibrinogen is independent risk factor for peripheral arterial disease, these polymorphisms are of practical interest. We determined the allele distribution of two sequence variations, a G/A at position -455 and a C/T at position -148 of the beta-fibrinogen gene promoter. Genotyping was performed on whole blood DNA of 50 subjects by PCR-RFLP (Thomas et al., 1996). A fragment of 1.3 kb was amplified framing a portion of the beta fibrinogen gene from -1178 bp from the start of the transcription to +122 bp. PCR products were digested with the restriction enzymes Hae III (-455 G/A) and Hind III (-148 C/T). Genotype of each sample was determined by electrophoresis of the cleavage products on the Precast ClearoseŽ BG gels. Study results showed that same 25 (50%) individuals were homozygous for G (-455) and C (-148) alleles, 24 (48%) were heterozygous for both alleles (G/A and C/T) and 1 (2%) was homozygous for A (-455) and T (-148) alleles. Frequencies were 74 % for G and C alleles and 26 % for A and T alleles. In conclusion, distribution of allele and genotype frequencies was same for both polymorphisms. These results showed that -455 G/A polymorphism is in complete allelic association with -148 C/T polymorphism. Our findings were consistent with so far studied Caucasian populations.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA