Pregled bibliografske jedinice broj: 71769
Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population
Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population // Abstracts of the 3rd Croatian Congress of Pharmacology with international participation ; u: Periodicum Biologorum. Supplement 103 (2001) (S) / Vitale, Branko (ur.).
Zagreb: Hrvatsko prirodoslovno društvo, 2001. str. 101-101 (poster, domaća recenzija, sažetak, znanstveni)
CROSBI ID: 71769 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population
Autori
Bokulić, Zvonimir ; Štefulj, Jasminka ; Jernej, Branimir
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Abstracts of the 3rd Croatian Congress of Pharmacology with international participation ; u: Periodicum Biologorum. Supplement 103 (2001) (S)
/ Vitale, Branko - Zagreb : Hrvatsko prirodoslovno društvo, 2001, 101-101
Skup
Croatian Congress of Pharmacology with international participation (3 ; 2001)
Mjesto i datum
Zagreb, Hrvatska, 18.09.2001. - 21.09.2001
Vrsta sudjelovanja
Poster
Vrsta recenzije
Domaća recenzija
Ključne riječi
tryptophan hydroxylase; gene; polymorphism
Sažetak
Up to now 13 polymorphic sites have been detected in the human gene encoding tryptophan hydroxylase (TPH). Recently, results of analysis of human TPH haplotypes were published, indicating the association of -1067G 218C haplotype with some aberrant bahaviors e.g. suicidal behavior. Our aim was to describe allele frequencies and genotype distribution of these two polymorphic sites in healthy Croatian population as a reference for our future pathophysiological studies. A-1067G polymorphic site (variants A or G) is located in promoter region of TPH gene. Knowing that this site is in complete linkage disequillibrium with C-1606T polymorphic site, we decided to investigate the later one by the use of single strand conformational polymorphism (SSCP), a method introduced earlier in our laboratory. DNA extracted from peripheral blood leukocytes served as a template for polymerase chain reaction (PCR) across polymorphic site. PCR products were denaturated and visualised after silver staining of gradient polyacrylamid gel. Change of a single base results in different conformation of single stranded DNA and different electrophoretic mobility (allele C moving faster than allele T through the gel). A218C polymorphic site is located in intron 7 of TPH gene. This polymorphic site was identified by standard restriction fragment lenght polymorphism (RFLP) metholology by using Bfa endonucease and 1.6 % agarose gel. The results obtained on 60 healthy persons demonstrated that allele frequencies and genotype distributions of two investigated polymorphic sites in the TPH gene do not differ markedly from the indo-european population.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
