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  • Analiza vezanega dedovanja in iskanje mutacij pri slovenskih družinah z avtosomno-dominantno policistično boleznijo ledvic (ADPKD) : [doktorsko delo]
    Vouk, Katja
    Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commongenetic disorders in man, with an incidence of 1 in 1000. It is characterised by progressive renal cystic disease ... typically leading to end-stage renal disease (ESIžD) in the sixth decade. ADFKD exhibits locus heterogeneity: there are at least two ADPKD loci responsible for the disease. Cloning of the PKD1 and PKD2 genes has allowed direct study of the genetic basis of ADPKD. In order to perform mutation screening, the gene involved in progression of the disease in a particular family must first be assigned by genetic linkage analysis. Linkage analysis was performed for 19 more or less complete ADPKD families (55 patients and 72 family members). Ultrasound examination and confirmed family history of the disease in the family were required. Linkage to the PKD1 was assessed by the use of four (KGB, AC2.5, CW3in CW2), and linkage to the PKD2 of five microsatelitte polymorphic markers(D4S1534, D4S2929, D4S1542, D4S1563 and D4S423). In 6 families (31.6%) lod scores indicated linkage to the PKD1 and in 2 families (10,5%) to the PKD2. Four families (21,1%) were linked to none of them and in 7 families (36.8 %) linkage to both of the genes was possible. Mutation screening was performed in exons 33-40 and 44-46 of the 3ćunduplicated region, as well as inexons 31-32 and in polmorphic exon 23 of the duplicated part of PKDl. Altogether 36 patients were screened and 4 changes detected: C37837T, G37850A and G38003A in exon 23 and 49114+128C-T in intron 39.(Abstract truncated at 2000 characters)
    Vrsta gradiva - disertacija ; neleposlovje za odrasle
    Založništvo in izdelava - Ljubljana : [K. Vouk], 2001
    Jezik - slovenski
    COBISS.SI-ID - 111441152

Knjižnica Signatura – lokacija, inventarna št. ... Status izvoda
Narodna in univerzitetna knjižnica, Ljubljana GS II 524173 glavno skladišče prosto - za čitalnico
MF, Centralna medicinska knjižnica, Ljubljana doktorske disertacije
VOUK Katja Analiza
IN: 020010172 		prosto - na dom, čas izposoje: 1 mes.
MF, Centralna medicinska knjižnica, Ljubljana doktorske disertacije
VOUK Katja Analiza
IN: 020010171 		prosto - na dom, čas izposoje: 1 mes.
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