Ancestral mutations may cause a significant proportion of GCK-MODY

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8248" target="_blank" >RIV/00064203:_____/12:8248 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/12:8248

Výsledek na webu

<a href="http://dx.doi.org/10.1111/j.1399-5448.2011.00845.x" target="_blank" >http://dx.doi.org/10.1111/j.1399-5448.2011.00845.x</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Ancestral mutations may cause a significant proportion of GCK-MODY

Popis výsledku v původním jazyce

Background Although the literature indicates that ancestral mutations in the glucokinase (GCK) gene are rare, we have detected a high frequency of four prevalent mutations that together are responsible for over one third of the GCK mutations in our CzechNational Register of monogenic diabetes. Therefore, we studied their potential ancestral origin in our and neighbouring Polish populations. Methods We analysed the lineage of four mutations in the GCK gene p.Glu40Lys (21 apparently unrelated families),p.Leu315His (15 families), p.Gly318Arg (26 families), and p.Val33Ala (10 families) using genotypes of 16 single nucleotide polymorphisms that span a 14 Mb region around the gene. Haplotypes were reconstructed using Phase and Haploview programmes, and their age was estimated using dmle+. Results We found strong evidence that supports ancestral origin of three of the four mutations: the p.Glu40Lys mutation was associated with an 11-marker long conserved haplotype, the p.Leu315His mutation

Název v anglickém jazyce

Ancestral mutations may cause a significant proportion of GCK-MODY

Popis výsledku anglicky

Background Although the literature indicates that ancestral mutations in the glucokinase (GCK) gene are rare, we have detected a high frequency of four prevalent mutations that together are responsible for over one third of the GCK mutations in our CzechNational Register of monogenic diabetes. Therefore, we studied their potential ancestral origin in our and neighbouring Polish populations. Methods We analysed the lineage of four mutations in the GCK gene p.Glu40Lys (21 apparently unrelated families),p.Leu315His (15 families), p.Gly318Arg (26 families), and p.Val33Ala (10 families) using genotypes of 16 single nucleotide polymorphisms that span a 14 Mb region around the gene. Haplotypes were reconstructed using Phase and Haploview programmes, and their age was estimated using dmle+. Results We found strong evidence that supports ancestral origin of three of the four mutations: the p.Glu40Lys mutation was associated with an 11-marker long conserved haplotype, the p.Leu315His mutation

Druh

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

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11402" target="_blank" >NT11402: Vyšetřování genů způsobujících monogenní diabetes ve skupině českých pacientů s diabetem a hodnocení vlivu nalezené mutace na klinický stav pacientů, jejich léčbu a kvalitu života</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Pediatric Diabetes

ISSN

1399-543X

e-ISSN

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Svazek periodika

13

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

DK - Dánské království

Počet stran výsledku

10

Strana od-do

489-498

Kód UT WoS článku

000308127500013

EID výsledku v databázi Scopus

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