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  • Preiskave gena AIRE pri bolnikih z avtoimunskim poliglandularnim sindromom tipa 1 (APS-1) : [magistrsko delo]
    Trebušak Podkrajšek, Katarina
    Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessivedisease. It is characterized by presence of two out of three major clinical symptomsČ hypoparathyroidism, Addisonćs ... disease and mucocutaneous candidiasis. Several other enocrine or nonendocrine disorders may be present. The aethiology of APS-1 is associated with mutations in the AIRE (autoimmune regulator) gene encoding a protein that contains motifs suggesting a role as atranscriptional regulator. Mutational analyses of the AIRE gene was performedin nine APS patients from eight families, their parents and healthy siblings using direct sequencing and restriction fragment length polymorphism.The aim of this study was to establish the genetic diagnosis of the APS-1 patients, to determine whether healthy brothers and sisters of the patients will develop APS-1 and to determine phenotype-genotype correlation inAPS-1 patients. Six out of nine analysed patients were homozygous for the mutation R257X that is most frequent in the Finnish population. Their parents and four analysed siblings of two patients were heterozygous for R257X. Since siblings were heterozygous, they will most probably not develop APS-1. One patient was found to be compound heterozygous for the R257X and a duplication of 23 bp in exon 1 (30-52dup23bp). This duplication is a novel mutation and changes the reading frame causing premature truncation at the beginning of thecoding region. Two out of nine analysed patients did not have a mutation inthe coding region and the intonexon boundaries. Therefore their diagnosis was not confirmed. Mutations may exist in promotor region or in intron regionsthat were not analysed. (Abstract truncated at 2000 characters).
    Vrsta gradiva - magistrsko delo
    Založništvo in izdelava - Ljubljana : [K. Trebušak], 2001
    Jezik - slovenski
    COBISS.SI-ID - 2368020

Knjižnica Signatura – lokacija, inventarna št. ... Status izvoda
MF, Centralna medicinska knjižnica, Ljubljana magistrske naloge
TREBUŠAK Katarina Preiskave
IN: 020020387 		prosto - na dom, čas izposoje: 1 mes.
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