The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A4884" target="_blank" >RIV/00216208:11110/09:4884 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/09:4884

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10

Popis výsledku v původním jazyce

The (TTTTA)(n) repetition from the promoter of the apo(a) gene is supposed to be a relevant candidate for the additional regulation of lipoprotein (a) levels. We scanned the kringle IV types 8-10 of the apo(a) gene for candidate variants that could be atleast partly responsible for the (TTTTA)(n) repetition effect. The selected sample group comprises of 160 unrelated individuals designed to cover a representative amount even of the rare TTTTA(n) allele carriers. The high resolution melting method was used to scan exons of selected kringles for alteration. Linkage disequilibrium and haplotype frequencies were assigned using Arlequine software. Overall eight different sequence variants were detected from which all but two were rare (c.66A-->C; c.74C-->T; c.133G-->A; c.154C-->T;+1G-->A 5'splice site; c.16G-->T; c.61G-->A; c.63C-->T). However the TTTTA(n) repetition was in allelic association with all five tested polymorphic loci (P<0.0023).

Název v anglickém jazyce

The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10

Popis výsledku anglicky

The (TTTTA)(n) repetition from the promoter of the apo(a) gene is supposed to be a relevant candidate for the additional regulation of lipoprotein (a) levels. We scanned the kringle IV types 8-10 of the apo(a) gene for candidate variants that could be atleast partly responsible for the (TTTTA)(n) repetition effect. The selected sample group comprises of 160 unrelated individuals designed to cover a representative amount even of the rare TTTTA(n) allele carriers. The high resolution melting method was used to scan exons of selected kringles for alteration. Linkage disequilibrium and haplotype frequencies were assigned using Arlequine software. Overall eight different sequence variants were detected from which all but two were rare (c.66A-->C; c.74C-->T; c.133G-->A; c.154C-->T;+1G-->A 5'splice site; c.16G-->T; c.61G-->A; c.63C-->T). However the TTTTA(n) repetition was in allelic association with all five tested polymorphic loci (P<0.0023).

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/NR9411" target="_blank" >NR9411: Genetická determinace účinnosti hypolipidemické léčby</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2009

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Clinica chimica acta

ISSN

0009-8981

e-ISSN

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Svazek periodika

405

Číslo periodika v rámci svazku

1-2

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

000267448300007

EID výsledku v databázi Scopus

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