CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country

Journal of Human Genetics
Fabio R FauczSalmo Raskin

Abstract

The goal of the present study was to provide a complete and updated spectrum of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutations in the Brazilian population combining all available in silico data for patients with CF in Brazil, including founder background and migration flow that consisted of the actual genetic pool of the Brazilian population. Information sources in international databases (PUBMED and SCIELO) were searched. The Brazilian population shows a wide variation in the frequency of CFTR mutations in states Rio Grande do Sul (RS), Santa Catarina (SC), Paraná (PR), São Paulo (SP), Rio de Janeiro (RJ), Minas Gerais (MG), Pará (PA) and Bahia (BA); this variation includes the most common mutation p.F508del. Apparently, this frequency variation is because of the different ethnic compositions. States such as SC and PR have a greater European admixture with almost 90% of CF alleles identified. In other states, such as BA, higher frequency of alleles that are common among African populations is seen. Overall, the CFTR mutational spectrum indicates the presence of European, African and Amerindian ethnic groups in the contemporary Brazilian CF patients. Here, we present an analysis of the CFTR allel...Continue Reading

References

Jun 1, 1992·Nature Genetics·C FérecC Verlingue
Sep 1, 1990·Human Genetics·G NovelliB Dallapiccola
Mar 1, 1988·American Journal of Physical Anthropology·F M SalzanoT T Rieger
Jun 1, 1967·Journal of Medical Genetics·F M Salzano
Nov 1, 1994·Human Immunology·M L Petzl-Erler, H O McDevitt
Jul 1, 1993·American Journal of Medical Genetics·S RaskinR Giugliani
Aug 1, 1995·Journal of Veterinary Pharmacology and Therapeutics·A ShlosbergS Soback
Mar 7, 1998·American Journal of Human Genetics·K J FriedmanG L Feldman
Jan 29, 2000·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·F R FauczM L Petzl-Erler
Jun 30, 2000·American Journal of Human Genetics·J Alves-SilvaV F Prado
Jun 5, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·R A HeimB A Allitto
Aug 9, 2001·The European Respiratory Journal·B WiedemannUNKNOWN German Cystic Fibrosis Quality Assurance Group
Apr 23, 2003·Molecular Genetics and Metabolism·Carla StreitMaria Luiza Saraiva Pereira
Oct 16, 2004·Human Biology·Anna BossiUNKNOWN Assemblea Dei Direttori Dei Centri
Jan 25, 2005·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·F G de AraújoA K C Ribeiro-dos-Santos
Feb 9, 2005·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Marie des GeorgesMireille Claustres
Feb 3, 2007·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Deise Marcela PiovesanPaulo de Tarso Roth Dalcin
Feb 3, 2007·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Bagatin EricsonGermania Araujo Pinheiro
Jun 5, 2007·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Salmo RaskinRanajit Chakraborty
Jun 15, 2007·Revue médicale suisse·Jean-Yves Nau
Dec 15, 2007·Human Biology·Fabiana Maia Moura CostaAngelina Xavier Acosta
Sep 18, 2008·Cadernos de saúde pública·Roberta RodriguesLéa M Z Maciel
Sep 30, 2008·Clinical Reviews in Allergy & Immunology·Jack K Sharp, Michael J Rock
Jan 1, 1997·American Journal of Human Biology : the Official Journal of the Human Biology Council·Francisco M SalzanoMaria L Petzl-Erler

❮ Previous
Next ❯

Citations

Aug 5, 2017·Pediatric Pulmonology·Luisa M NunesLuiz Vicente R F da Silva Filho
May 15, 2013·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Vinícius Buaes Dal'MasoPaulo de Tarso Roth Dalcin
May 14, 2017·BMC Infectious Diseases·Lander BoschLuiz Vicente Ribeiro Ferreira da Silva Filho
Aug 21, 2020·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Luiz Vicente Ribeiro Ferreira da Silva FilhoUNKNOWN Brazilian Cystic Fibrosis Patient Registry Contributors Team
Feb 23, 2021·Disease Markers·Amanda CambraiaGiselda Maria Kalil de Cabello

❮ 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

International Journal of Otolaryngology
Tania SihOtávio Piltcher
Arquivos brasileiros de cardiologia
Gláucia M M de OliveiraCarlos H Klein
© 2022 Meta ULC. All rights reserved