A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination
Joint Authors
OGOUMA-AWORET, Ludmilla
RABES, Jean-Pierre
de MAZANCOURT, Philippe
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-12-29
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Hereditary hemochromatosis is an autosomal recessive disorder with incomplete penetrance that results from excess iron absorption and can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma.
The most common form of hereditary hemochromatosis in Western Europe is due to a homozygous mutation (p.(Cys282Tyr) or C282Y), in the HFE gene which encodes hereditary haemochromatosis protein.
In the general European population, the frequency of the homozygous genotype is 0.4%, and this mutation explains up to 95% of hereditary hemochromatosis in France.
We report here an improved PCR and restriction endonuclease assay based on multiplex amplification of HFE exon 4 (for C282Y detection), HFE exon 2 (for H63D detection), FZD1 gene (for digestion controls), and two Short Tandem Repeats (SE33 and FGA) for identity monitoring and contamination tracking.
Fluorescent primers allow capillary electrophoresis, accurate allele tagging, and sensitive contamination detection.
American Psychological Association (APA)
OGOUMA-AWORET, Ludmilla& RABES, Jean-Pierre& de MAZANCOURT, Philippe. 2020. A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination. BioMed Research International،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1138104
Modern Language Association (MLA)
OGOUMA-AWORET, Ludmilla…[et al.]. A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination. BioMed Research International No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1138104
American Medical Association (AMA)
OGOUMA-AWORET, Ludmilla& RABES, Jean-Pierre& de MAZANCOURT, Philippe. A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determination of Contamination. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1138104
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1138104