Evidence map›Paper›PMID 17132904›Full record

ArticleJournal of applied genetics2006

DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study.

Agnieszka Binczak-Kuleta, Jacek Rozanski, Leszek Domanski, Marek Myslak, Kazimierz Ciechanowski, Andrzej Ciechanowicz

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Article in Journal of applied genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
–field-weighted citation impact, top 86% of its field
1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 7 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Agnieszka Binczak-KuletaPomeranian Medical University, Department of Laboratory Diagnostics & Molecular Medicine, Szczecin, Poland. binia@sci.pam.szczecin.pl
Jacek Rozanski
Leszek Domanski
Marek Myslak
Kazimierz Ciechanowski
Andrzej Ciechanowicz
Pomeranian Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutosomal 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.

methodsFor 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.

resultsDNA microsatellite analysis was performed in 25 Polish ADPKD families and established the type of disease (21 families PKD1-type, 1 family PKD2-type).

conclusionsWhile 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.

Indexed as

Microsatellite RepeatsAdolescentAdultAgedChildChild, PreschoolDNA Mutational AnalysisFemaleHumansMaleMiddle AgedPedigreePolandPolycystic Kidney, Autosomal Dominant

Identifiers

PMID17132904
OpenAlexW2081018136

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