DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study.
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 16p13.3 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, D16S407, 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 PKD1-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.
Binczak-Kuleta
Agnieszka
A
Pomeranian Medical University, Department of Laboratory Diagnostics & Molecular Medicine, Szczecin, Poland. binia@sci.pam.szczecin.pl
Rozanski
Jacek
J
Domanski
Leszek
L
Myslak
Marek
M
Ciechanowski
Kazimierz
K
Ciechanowicz
Andrzej
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D011044:Poland; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*