Your browser doesn't support javascript.
loading
Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.
Negahdari, Samira; Zamani, Mina; Seifi, Tahereh; Sedighzadeh, Sahar; Mazaheri, Neda; Zeighami, Jawaher; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; Keikhaei, Bijan; Radpour, Ramin; Shariati, Gholamreza; Galehdari, Hamid.
Afiliação
  • Negahdari S; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Zamani M; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Seifi T; Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Sedighzadeh S; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Mazaheri N; Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Zeighami J; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Sedaghat A; Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Saberi A; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Hamid M; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Keikhaei B; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Radpour R; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur Universityof medical Sciences, Ahvaz, Iran.
  • Shariati G; Narges Genetics Diagnostic Laboratory, Ahvaz, Iran.
  • Galehdari H; Department of Genetics, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran.
Int J Prev Med ; 11: 117, 2020.
Article em En | MEDLINE | ID: mdl-33088445
BACKGROUND: Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints. METHODS: Among families who were referred to Narges Genetic and PND Laboratory in 2015-2017, five families with a history of blood diseases were analyzed using the whole exome sequencing (WES) method. RESULTS: We detected two novel mutations (c.190-2A>G and c.2840C>G) in the FANCA gene, c. 1429dupA mutation in the FANCC gene, and c.1392A>G mutation in the ITGA2B gene. The prediction of variant pathogenicity has been done using bioinformatics tools such as Mutation taster PhD-SNP and polyphen2 and were confirmed by Sanger sequencing. CONCLUSIONS: WES could be as a precise tool for identifying the pathologic variants in affected patient and heterozygous carriers among families. This highly successful technique will remain at the forefront of platelet and blood genomic research.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Int J Prev Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irã

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Int J Prev Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irã