High Resolution Melt analysis for mutation screening in PKD1 and PKD2
نویسندگان
چکیده
منابع مشابه
High Resolution Melt analysis for mutation screening in PKD1 and PKD2
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder. It is characterized by focal development and progressive enlargement of renal cysts leading to end-stage renal disease. PKD1 and PKD2 have been implicated in ADPKD pathogenesis but genetic features and the size of PKD1 make genetic diagnosis tedious. METHODS We aim to prove that high...
متن کاملHigh Resolution Melt analysis for mutation screening in PKD1 and PKD2. Running title: Mutation Screening in ADPKD with HRM Subject of manuscript: Hereditary and genetic diseases
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CONTEXT Real-time polymerase chain reaction technologies have replaced many of the more labor-intense methods in the molecular diagnostics laboratory. Similarly, melt curve analysis can provide a rapid means of mutation screening. OBJECTIVE To determine if real-time polymerase chain reaction and melt curve analysis using the SmartCycler II could be used as a screening tool for 3 common mutati...
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High-resolution melt analysis (HRMA) is a cheap and reliable post-polymerase chain reaction (PCR) cancer mutation screening technique, which is fast gaining clinical relevance. The HRMA capabilities of the LightScanner (Idaho Technology) have been severally studied. However, the ABI 7500 HRM has not been tested against the purpose-built HRM instrument such as the LightScanner. DNA from formalin...
متن کاملPkd1 and Pkd2 Are Required for Normal Placental Development
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of inherited renal failure that results from mutations in PKD1 and PKD2. The disorder is characterized by focal cyst formation that involves somatic mutation of the wild type allele in a large fraction of cysts. Consistent with a two-hit mechanism, mice that are homozygous for inactivating mutations of either Pkd1...
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ژورنال
عنوان ژورنال: BMC Nephrology
سال: 2011
ISSN: 1471-2369
DOI: 10.1186/1471-2369-12-57