Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency.
作者： Piotr K. Janicki , Sonia Vaida , Hamid A. B. AL-Mondhiry
DOI: 10.1155/2013/941684
关键词: Missense mutation 、 Gene 、 Genetics 、 Sanger sequencing 、 Proband 、 Hereditary Factor V Deficiency 、 DNA sequencing 、 Medicine 、 Coding region 、 Factor V Deficiency
摘要: The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents newborn child) by next generation sequencing (NGS) of entire F5 gene locus. Five mutations coding sequence F5, including three missense single-nucleotide variants (R2102H, R513K, D107H) two synonymous (A135A , S184S), were identified confirmed Sanger proband (homozygote for all detected mutations), parents, child (all heterozygotic carriers mutations). Each was previously associated with separate phenotypes, (R2102H), thrombosis (R513K) frequent miscarriages (D107H). In addition, at least 75 additional (including six novels) untranslated region F5.
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