Ancestral mutations may cause a significant proportion of GCK-MODY

Result code in 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>

Alternative codes found

RIV/00216208:11130/12:8248

Result on the web

<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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Result language

angličtina

Original language name

Ancestral mutations may cause a significant proportion of GCK-MODY

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

<a href="/en/project/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>

Continuities

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

Publication year

2012

Confidentiality

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

Name of the periodical

Pediatric Diabetes

ISSN

1399-543X

e-ISSN

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Volume of the periodical

13

Issue of the periodical within the volume

6

Country of publishing house

DK - DENMARK

Number of pages

10

Pages from-to

489-498

UT code for WoS article

000308127500013

EID of the result in the Scopus database

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