Genetická epidemiologie MODY v České republice: nové mutace genech HNF-4alfa GCK a HNF-1alfa pro MODY

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F03%3A00000832" target="_blank" >RIV/00023001:_____/03:00000832 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alfa GCK and HNF-1alfa

Popis výsledku v původním jazyce

Aims/hypothesis. The aim of this study was to examine the prevalence and nature of mutations in HNF4f/MODY1, GCK/MODY2 and HNF-1f/MODY3 genes in Czech subjects with clinical diagnosis of MODY. Methods. We studied 61 unrelated index probands of Czech origin (28 males, 33 females) with a clinical diagnosis of MODY and 202 family members. The mean age of probands was 22.7-12.0 years (range, 6-62) and the mean age at the first recognition of hyperglycaemia was 14.7-6.0 years (range, 1-25). The promotor andcoding regions inclusive intron exon boundaries of the HNF-4f, GCK and HNF-1f genes were examined by PCR-dHPLC (HNF-1f and GCK) and direct sequencing. Results. We identified 20 different mutations in the HNF-4f, GCK and HNF-1f in 29 families (48% of allfamilies studied), giving a relative prevalence of 5% of MODY1, 31% of MODY2 and 11.5% of MODY3 among the Czech kindred with MODY. Three of 3, 10 of 11 and 1 of 6 of the mutations identified in HNF-4f, GCK and HNF-1f respectively, were ne

Název v anglickém jazyce

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alfa GCK and HNF-1alfa

Popis výsledku anglicky

Aims/hypothesis. The aim of this study was to examine the prevalence and nature of mutations in HNF4f/MODY1, GCK/MODY2 and HNF-1f/MODY3 genes in Czech subjects with clinical diagnosis of MODY. Methods. We studied 61 unrelated index probands of Czech origin (28 males, 33 females) with a clinical diagnosis of MODY and 202 family members. The mean age of probands was 22.7-12.0 years (range, 6-62) and the mean age at the first recognition of hyperglycaemia was 14.7-6.0 years (range, 1-25). The promotor andcoding regions inclusive intron exon boundaries of the HNF-4f, GCK and HNF-1f genes were examined by PCR-dHPLC (HNF-1f and GCK) and direct sequencing. Results. We identified 20 different mutations in the HNF-4f, GCK and HNF-1f in 29 families (48% of allfamilies studied), giving a relative prevalence of 5% of MODY1, 31% of MODY2 and 11.5% of MODY3 among the Czech kindred with MODY. Three of 3, 10 of 11 and 1 of 6 of the mutations identified in HNF-4f, GCK and HNF-1f respectively, were ne

Druh

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

CEP obor

FB - Endokrinologie, diabetologie, metabolismus, výživa

OECD FORD obor

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Projekt

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Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2003

Kód důvěrnosti údajů

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

Název periodika

Diabetologia

ISSN

0012-186X

e-ISSN

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Svazek periodika

46

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

5

Strana od-do

291-295

Kód UT WoS článku

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EID výsledku v databázi Scopus

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