Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17008284http://www.w3.org/2000/01/rdf-schema#comment"

Aims

A recently identified polymorphism in factor V gene (His1299Arg; also named HR2) has been reported to be a possible risk factor for the development of venous thromboembolism (VTE), with a high prevalence of 9.5-15.2% in patients of different ethnic groups in different parts of the world. The aim of this study is to assess the prevalence of HR2 haplotype in Lebanon.

Methods

We randomly selected 125 samples from unrelated donors logged into our HLA registry; these represent healthy Lebanese individuals originating from different provinces and religious communities of the country. Their DNA was extracted using the Pel-Freez extraction kit and stored at -80 degrees C for later use. The CVD StripAssay was used for PCR and reverse hybridisation. It screens for several gene mutations including factor V H1299R.

Results

A total of 125 controls were studied: 72 males and 53 females with a median age 42 years. Thirteen (10.4%) had the HR2 haplotype; 11 (8.8%) were heterozygous (R1/R2), and two (1.6%) were homozygous (R2/R2), with an allelic frequency of 0.06.

Conclusions

Our study is the first report from Lebanon that describes the prevalence of HR2 haplotype and the frequency of its alleles. We are reporting a high prevalence of the HR2 in our population (10.4%). The hypothesis that A4070G polymorphism might contribute to the expression of a thrombotic phenotype deserves to be tested in our population through larger studies."xsd:string
http://purl.uniprot.org/citations/17008284http://purl.org/dc/terms/identifier"doi:10.1080/00313020600922934"xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/author"Mahfouz R.A."xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/author"Otrock Z.K."xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/author"Sabbagh A.S."xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/author"Zaatari G.S."xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/name"Pathology"xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/pages"442-444"xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/title"Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population."xsd:string
http://purl.uniprot.org/citations/17008284http://purl.uniprot.org/core/volume"38"xsd:string
http://purl.uniprot.org/citations/17008284http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17008284
http://purl.uniprot.org/citations/17008284http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/17008284
http://purl.uniprot.org/uniprot/#_Q1L610-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_A0A4V1DVZ0-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_A0A4P8D7E0-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_A0A4P8D7E7-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_B4DU26-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_C8C1T0-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_C8C1T1-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_Q15430-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_F6MG31-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_Q2HZZ0-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
http://purl.uniprot.org/uniprot/#_Q2HZZ1-mappedCitation-17008284http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17008284
▶