Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia
Autor: | Amel Elgaaied Ben Ammar, Wijden Elborji, Emna Gouider, Asma Jlizi, Kaouther Zahra, Rim Sassi, Balkis Meddeb, Moez Zorgan, Hejer Elmahmoudi, Fatma Ben-lakhal |
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Jazyk: | angličtina |
Rok vydání: | 2012 |
Předmět: |
Male
Factor VII Deficiency DNA Mutational Analysis medicine.disease_cause Exon chemistry.chemical_compound Polymorphism (computer science) Coding region Promoter Regions Genetic Genetics Mutation Factor VII General Medicine Exons Middle Aged F7 gene Phenotype Blood Coagulation Factors Epistaxis Female Mutations lcsh:RB1-214 Adult Metrorrhagia Histology Tunisia Adolescent Contusions Biology Polymorphism Single Nucleotide Pathology and Forensic Medicine Young Adult medicine lcsh:Pathology Humans Genetic Predisposition to Disease FVII deficiency Gene Blood Coagulation Menorrhagia Coagulants Research Introns chemistry Polymorphisms |
Zdroj: | Diagnostic Pathology, Vol 7, Iss 1, p 92 (2012) Diagnostic Pathology |
ISSN: | 1746-1596 |
Popis: | Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia. Mutation detection was performed by sequencing the whole F7 gene coding region, exon-intron boundaries and about 400 bp of the promoter region. We identified 5 mutations in five unrelated families; the novel p.F328Y mutation and the reported mutations: p.R304Q, p.M298I, IVS1aG > A and p.G-39G. For the remaining 5 patients we didn’t identified any mutations using PCR/Sequencing protocol. In conclusion, this study represents the first comprehensive molecular series of FVII deficiency affected patients in Tunisia from the North. We will try in the future to continue the molecular study for Tunisian patients from Center and South provinces in order to have a complete idea about the FVII deficiency mutational profile in our country. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085 |
Databáze: | OpenAIRE |
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