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Novel Method Probe-based Real-Time PCR to Detect 2 Single-Nucleotide Polymorphisms Close to Each Other HFE

Novel Method Probe-based Real-Time PCR to Detect 2 Single-Nucleotide Polymorphisms Close to Each... RESEARCH ARTICLE Novel Method Probe-based Real-Time PCR to Detect 2 Single-Nucleotide Polymorphisms Close to Each Other: HFE Hemochromatosis Gene Model Frederico S. V. Malta, MD, PhD,*w Zilma N. Reis, MD, PhD,* and Antoˆnio C. V. Cabral, MD, PhD* ereditary hemochromatosis (HH) is an autosomal Abstract: Hereditary hemochromatosis is known as the most Hrecessive disorder of iron metabolism and is charac- common genetic disorder among individuals of European ge- terized by iron accumulation. This accumulation may netic background. It is possible to find 2 mutations closely occur in several organs and if not controlled the affected placed in the HFE gene (H63D and S65C) and this proximity person may develop hepatic cirrhosis, cardiomyopathy, can cause errors when genotyped by real-time polymerase chain diabetes, arthritis, hypogonadism, and changes in skin 1–5 reaction (PCR) genotyping assay. The aim of this study was to pigmentation. It is the most common genetic disorder develop a hydrolysis probe-based PCR assay for detection of the among individuals of European genetic background, but 3,6 H63D and S65C mutations without interference from on each it is present all around the world. Males are more se- other. Herein the study involved the standardization of an im- verely affected by http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Applied Immunohistochemistry & Molecular Morphology Wolters Kluwer Health

Novel Method Probe-based Real-Time PCR to Detect 2 Single-Nucleotide Polymorphisms Close to Each Other HFE

Applied Immunohistochemistry & Molecular Morphology , Volume Publish Ahead of Print – Aug 1, 2015

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Copyright
Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
1541-2016
DOI
10.1097/PAI.0000000000000206
pmid
26258758
Publisher site
See Article on Publisher Site

Abstract

RESEARCH ARTICLE Novel Method Probe-based Real-Time PCR to Detect 2 Single-Nucleotide Polymorphisms Close to Each Other: HFE Hemochromatosis Gene Model Frederico S. V. Malta, MD, PhD,*w Zilma N. Reis, MD, PhD,* and Antoˆnio C. V. Cabral, MD, PhD* ereditary hemochromatosis (HH) is an autosomal Abstract: Hereditary hemochromatosis is known as the most Hrecessive disorder of iron metabolism and is charac- common genetic disorder among individuals of European ge- terized by iron accumulation. This accumulation may netic background. It is possible to find 2 mutations closely occur in several organs and if not controlled the affected placed in the HFE gene (H63D and S65C) and this proximity person may develop hepatic cirrhosis, cardiomyopathy, can cause errors when genotyped by real-time polymerase chain diabetes, arthritis, hypogonadism, and changes in skin 1–5 reaction (PCR) genotyping assay. The aim of this study was to pigmentation. It is the most common genetic disorder develop a hydrolysis probe-based PCR assay for detection of the among individuals of European genetic background, but 3,6 H63D and S65C mutations without interference from on each it is present all around the world. Males are more se- other. Herein the study involved the standardization of an im- verely affected by

Journal

Applied Immunohistochemistry & Molecular MorphologyWolters Kluwer Health

Published: Aug 1, 2015

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