DNA microsatellite analysis in families autosomal dominant polycystic kidney disease [ADPKD]: the first Polish study

• Autorzy: Binczak-Kuleta A , Rozanski J , Domanski L , Myslak M , Ciechanowski K , Ciechanowicz A
• Języki publikacji: EN

Abstrakty

EN

Background: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal disorders with genetic heterogeneity. Mutations of two known genes are responsible for this disease: PKD1 at 16p 13.3 and PKD2 at 4q21-23. A majority of cases (85%) are caused by mutations in PKD1. Because direct mutation screening remains complex, we describe here the application of an efficient approach to studies based on highly informative dinucleotide and tetranucleotide repeats flanking genes PKD1 and PKD2. Methods: For this study a series of microsatellites closely linked to locus PKD1 (D16S291, D16S663, D16S665, D16S283, Dl6S407, D16S475) and to locus PKD2 (D4S1563, D4S2929, D4S414, D4S1534, D4S423) were selected. Short (81-242 bp) DNA fragments containing the tandem repeats were amplified by polymerase chain reaction (PCR). The number of repeat units of microsatelite markers was determined by fluorescent capillary electrophoresis. Results: DNA microsatellite analysis was performed in 25 Polish ADPKD families and established the type of disease (21 families PKDl-type, 1 family PKD2-type). Conclusions: While a disease-causing mutation in the PKD1 and PKD2 genes cannot be identified, DNA microsatellite analysis provided an early diagnosis and may be considered in ADPKD families.

Słowa kluczowe

EN

human disease; autosomal dominant polycystic kidney disease; PKD1 gene; diagnosis; PKD2 gene; mutation; DNA microsatellite analysis; genetic disease

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2006
• Tom: 47
• Numer: 4
• Opis fizyczny: p.383-389,fig.,ref.

Twórcy

autor

Binczak-Kuleta A

• Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstancow Wlkp.72, 70-111 Szczecin, Poland

autor

Rozanski J

• Department of Internal Medicine, Nephrology and Transplantology, Pomeranian Medical University, Szczecin, Poland

autor

Domanski L

• Department of Internal Medicine, Nephrology and Transplantology, Pomeranian Medical University, Szczecin, Poland

autor

Myslak M

• Department of Internal Medicine, Nephrology and Transplantology, Pomeranian Medical University, Szczecin, Poland

autor

Ciechanowski K

• Department of Internal Medicine, Nephrology and Transplantology, Pomeranian Medical University, Szczecin, Poland

autor

Ciechanowicz A

• Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstancow Wlkp.72, 70-111 Szczecin, Poland

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