Efficient detection of mutations in Wilson disease by manifold sequencing

Genomics
E WaldenströmU Landegren

Abstract

We have applied a solid support for parallel handling and direct loading of sequencing reactions--manifold sequencing--to analyze the coding sequence for the deficient copper transporting P-type ATPase in 24 families with Wilson disease. At least 100 different amplification reactions could be handled in parallel, with a minimal turnaround time of 12 h from isolated genomic DNA to identification of the mutations. Sixteen different mutations were found, accounting for 92% of the mutant genes. Ten of these mutations have not been previously described. Eleven were observed only in single families. Mutation His1069Gln, previously identified as the most prevalent mutation in Northern Europe, was found in one-third of the Northern European chromosomes in our material. Four patients were homozygous for this mutation, and three were homozygous for Thr977Met. The method allowed us to establish the diagnosis of Wilson disease in 24 h in a patient with acute hepatic failure.

Citations

Apr 23, 2005·Annals of Human Genetics·G V Z DedoussisH Schmidt
Oct 24, 2007·Genetic Testing·Maria Barbara LeporiGeorgios Loudianos
Aug 22, 2003·Nucleic Acids Research·Johan BanérMats Nilsson
Jan 4, 1998·Journal of Gastroenterology and Hepatology·D W Cox
Jan 5, 2002·Clinical Chemistry and Laboratory Medicine : CCLM·H Witt, O Landt
Aug 14, 2008·World Journal of Gastroenterology : WJG·S SanthoshG M Chandy
Aug 20, 2003·QJM : Monthly Journal of the Association of Physicians·J M WalsheK Westermark
Nov 21, 1997·Chest·P Manian
Nov 3, 2010·European Journal of Medical Genetics·Benjaporn PanichareonThawornchai Limjindaporn
Sep 28, 2007·Parkinsonism & Related Disorders·Alexandre Aluizio Costa MachadoEgberto Reis Barbosa
Nov 4, 2004·American Journal of Medical Genetics. Part a·Eleni PanagiotakakiEmmanuel Kanavakis
May 16, 2006·Biochemical and Biophysical Research Communications·Lei WanFuu-Jen Tsai
Jan 3, 2009·Journal of Hepatology·Emanuele NicastroRaffaele Iorio
Jun 10, 1998·Biochemical and Biophysical Research Communications·M La FarinaI Albanese
Jan 22, 2013·European Journal of Medical Genetics·Ozlenen Simsek PapurOrhan Terzioglu
Dec 5, 1998·American Journal of Human Genetics·J R Forbes, D W Cox
Mar 13, 2001·Molecular Genetics and Metabolism·P ButlerP K Mistry
Sep 30, 1999·Human Mutation·D CurtisS Tanner
May 8, 2001·European Journal of Gastroenterology & Hepatology·R PalssonS Olafsson
Aug 11, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·John M Walshe
Aug 8, 2007·Human Mutation·Susan M Kenney, Diane W Cox
May 21, 2010·Journal of Clinical Gastroenterology·Kassem BaradaJulnar Usta
Oct 8, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Graznya GromadzkaAnna Członkowska
Jun 4, 2008·Upsala Journal of Medical Sciences·Kamilla PortalaKerstin Westermark
May 31, 2019·Human Gene Therapy·Lili LiuShangang Li
Oct 5, 2001·European Psychiatry : the Journal of the Association of European Psychiatrists·K PortalaL von Knorring
Oct 3, 2002·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Sambit SenRajiv Jalan
Jul 11, 2012·Scandinavian Journal of Gastroenterology·Karl Sigvard OlssonRoger Williams
Mar 3, 1998·Human Mutation·H KalinskyB Bonne-Tamir
Apr 29, 2016·World Journal of Gastroenterology : WJG·Gursimran ChandhokHartmut Hj Schmidt
May 17, 2008·Journal of Human Genetics·Tawhida Y AbdelghaffarHartmut Schmidt
Aug 27, 2019·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Thomas Damgaard SandahlPeter Ott

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Hepatology : Official Journal of the American Association for the Study of Liver Diseases
L García-VillarrealA Tugores
Therapeutische Umschau. Revue thérapeutique
P GüntherA Wagner
European Journal of Haematology
Sigvard Olsson, Ruma Raha-Chowdhury
© 2021 Meta ULC. All rights reserved