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Pregled bibliografske jedinice broj: 71769

Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population


Bokulić, Zvonimir; Štefulj, Jasminka; Jernej, Branimir
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)


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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.-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



POVEZANOST RADA


Projekti:
00980002

Ustanove:
Institut "Ruđer Bošković", Zagreb


Citiraj ovu publikaciju:

Bokulić, Zvonimir; Štefulj, Jasminka; Jernej, Branimir
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)
Bokulić, Z., Štefulj, J. & Jernej, B. (2001) Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population. U: Vitale, B. (ur.)Abstracts of the 3rd Croatian Congress of Pharmacology with international participation ; u: Periodicum Biologorum. Supplement 103 (2001) (S).
@article{article, author = {Bokuli\'{c}, Zvonimir and \v{S}tefulj, Jasminka and Jernej, Branimir}, editor = {Vitale, B.}, year = {2001}, pages = {101-101}, keywords = {tryptophan hydroxylase, gene, polymorphism}, title = {Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population}, keyword = {tryptophan hydroxylase, gene, polymorphism}, publisher = {Hrvatsko prirodoslovno dru\v{s}tvo}, publisherplace = {Zagreb, Hrvatska} }
@article{article, author = {Bokuli\'{c}, Zvonimir and \v{S}tefulj, Jasminka and Jernej, Branimir}, editor = {Vitale, B.}, year = {2001}, pages = {101-101}, keywords = {tryptophan hydroxylase, gene, polymorphism}, title = {Tryptophan hydroxylase gene: the investigation of polymorphisms in healthy population}, keyword = {tryptophan hydroxylase, gene, polymorphism}, publisher = {Hrvatsko prirodoslovno dru\v{s}tvo}, publisherplace = {Zagreb, Hrvatska} }




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