Author/Editor     Vouk, Katja
Title     Analiza vezanega dedovanja in iskanje mutacij pri slovenskih družinah z avtosomno-dominantno policistično boleznijo ledvic (ADPKD)
Type     monografija
Place     Ljubljana
Publisher     Medicinska fakulteta
Publication year     2001
Volume     str. 110
Language     slo
Abstract     Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic 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 (ESI/D) 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, CW3 in 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 3'unduplicated region, as well as in exons 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.
Descriptors     KIDNEY, POLYCYSTIC, AUTOSOMAL DOMINANT
DNA MUTATIONAL ANALYSIS
FAMILY
LINKAGE (GENETICS)
RECOMBINATION, GENETIC
GENETIC MARKERS
POLYMORPHISM (GENETICS)
POLYMERASE CHAIN REACTION
MUTATION
ALLELES
EXONS
POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL