scholarly journals Improved Molecular Diagnosis of Hereditary Hemochromatosis Using a DNA Enzyme Immunoassay

2000 ◽  
Vol 46 (5) ◽  
pp. 711-712 ◽  
Author(s):  
Maria Raffaella Biasin ◽  
Tosca Bertin ◽  
Giuseppe Sardeo ◽  
Paolo Fabris ◽  
Enzo Venza ◽  
...  
Keyword(s):  
Enzyme Immunoassay ◽  
Molecular Diagnosis ◽  
Hereditary Hemochromatosis ◽  
Dna Enzyme Immunoassay

PCR of DNA from dried blood spots on filter paper coupled to a simple DNA enzyme immunoassay for rapid detection of HIV-1

1996 ◽  
Vol 52 (4) ◽  
pp. 308-309
Author(s):  
B. Schweiger ◽  
C. Kücherer ◽  
C. Fleischer ◽  
H. v. Spreckelsen ◽  
P. Zablocki-Kaiser ◽  
...  
Keyword(s):  
Enzyme Immunoassay ◽  
Filter Paper ◽  
Rapid Detection ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Dna Enzyme Immunoassay ◽  
Hiv 1

scholarly journals Comparison of DNA Enzyme Immunoassay and Line Probe Assays (Inno-LiPA HCV I and II) for Hepatitis C Virus Genotyping

1998 ◽  
Vol 36 (5) ◽  
pp. 1461-1463 ◽  
Author(s):  
S. Le Pogam ◽  
F. Dubois ◽  
R. Christen ◽  
C. Raby ◽  
A. Cavicchini ◽  
...  
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Enzyme Immunoassay ◽  
Untranslated Regions ◽  
Line Probe Assay ◽  
The Core ◽  
Probe Assay ◽  
Dna Enzyme Immunoassay

Two methods for genotyping hepatitis C virus (DNA enzyme immunoassay [DEIA] and line probe assay [Inno-LiPA HCV I and II]) were compared on 120 samples and of these 87% were assigned to the same subtype by both assays. There were 15 subtyping discrepancies which involved 5% of type 1 isolates and 90% of type 2 isolates. Amplified products from the core and 5′ untranslated regions (UTR) were sequenced to resolve conflicts. Type 1 discordant samples had a guanosine at position −99 in the 5′ UTR, a characteristic of genotype 1b, and a core region typical of subtype 1a. The eight isolates classified as 2a/2c by LiPA and as subtype 2c by DEIA belonged to type 2.

HCV Viremia in Hemodialysis Patients: Detection by a DNA Enzyme Immunoassay for Amplified HCV Sequences

Renal Failure ◽  
1995 ◽  
Vol 17 (5) ◽  
pp. 565-573
Author(s):  
Roberto Boero ◽  
Guido Martina ◽  
Paolo Bosio ◽  
Sophie Devos ◽  
Paola Bertolo ◽  
...  
Keyword(s):  
Enzyme Immunoassay ◽  
Hemodialysis Patients ◽  
Dna Enzyme Immunoassay

Typing of hepatitis C virus isolates by DNA enzyme immunoassay

1994 ◽  
Vol 48 (1) ◽  
pp. 81-91 ◽  
Author(s):  
Sergei Viazov ◽  
Andree Zibert ◽  
Kandiah Ramakrishnan ◽  
Anders Widell ◽  
Ada Cavicchini ◽  
...  
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Enzyme Immunoassay ◽  
Dna Enzyme Immunoassay ◽  
Virus Isolates

scholarly journals New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1980
Author(s):  
Gonzalo Hernández ◽  
Xenia Ferrer-Cortès ◽  
Veronica Venturi ◽  
Melina Musri ◽  
Martin Floor Pilquil ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Iron Metabolism ◽  
Hereditary Hemochromatosis ◽  
Genetic Data ◽  
Common Type ◽  
Iron Deposition ◽  
Nonsense Mutations ◽  
Clinical Complications ◽  
Specialized Center ◽  
New Mutations

Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.

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