Genetické příčiny MODY (Maturity-Onset Diabetes of the Young)- sledování prevalence mutací "MODY" genů v české populaci diabetiků a kontrol

• Main Author: Lukášová, Petra
• Other Authors: Bendlová, Běla
• Format: Doctoral Thesis
• Language: Czech
• Published: 2007
• Online Access: http://www.nusl.cz/ntk/nusl-373574

I I a I I I I I I I I I I I I I I I I I 6. CONCLUSTONS Theaimsof ourstudywereperformed. Twelvefamilieswithunrecognizedtypeof MODYwerecotlected. Quite largecohortsof DM2patients,direct offspringof DM2patients,gestational diabeticsandsufficienttylargegroupof controlsubjectswerecompleted.Attthe probands underwenta detaitedanthropometricand biochemicalcharacterisation.Datawere filled in anelectronicdatabase. TheDNAbankwasestablishedandcompleted. For GCK gene we adopted screeningmethodsSSCP for all exons specific for B-celts(1a-10)andTGGEfor exons1a-7andwe confirmedtheirhighsensitivityandthe 100%concordanceof both methods.Resultswere consequentlyconfirmedby direct sequencingin bothdirections. We founda novelheterozygousmissensemutationV33Aand a previoustypubtished mutationE40Kin exon2 of GCK genein two differnentCzechMODYfamilies.However, ourstudydid not providethe evidenceof GCK geneas a risk genein the pathogenesis of diabetesmellitustype2 or of the gestationaldiabetesin Czechpopulationbecausewe identifiedontyone intronicmutationin a gestationaldiabeticand no differencesin the frequenciesof GCKpolymorphismsbetweenCzechdiabeticandnondiabeticpopulations. We assessedthe frequencyof commonvariant-30G>Ain B-promoterof GCK gene. Atthoughwe did not detect the higherfrequencyof minor attele A in diabetic in...