ArticleJournal of research in medical sciences : the official journal of Isfahan University of Medical Sciences2017
Heterozygosity analysis of polycystic kidney disease 1 gene microsatellite markers for linkage analysis of autosomal dominant polycystic kidney disease type 1 in the Iranian population.
Article in Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.Clinical kidney journal · 2021Article
- Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2019Article
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5 authors at 1 institution in 1 country.
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Abstract
backgroundAutosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease. Although imaging techniques are a means of accurate diagnosis when the cysts appear in the third or fourth decades of the patient's life, they are of little value for early diagnosis. Genetic tests are required for preimplantation genetic diagnosis, decision-making for kidney donation to an affected relative. Although mutation of the polycystic kidney disease ( MATERIALS AND
methodsIn this study, we assessed the informativeness of the
resultsWe found that the HET and PIC values for the D16S475 marker are 0.92 and 0.91, respectively. These two values are 0.82 and 0.80 for D16S291 and 0.50 and 0.47 for D16S3252, respectively.
conclusionBased on this data, D16S475 and D16S291 are highly and D16S3252 is moderately informative for indirect genetic diagnosis of
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