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首页> 外文期刊>Case Reports in Genetics >Targeted Next-Generation Resequencing ofF5Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency
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Targeted Next-Generation Resequencing ofF5Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

机译：F5基因的靶向的下一代重测序可识别严重遗传性因子V缺乏症的新型多重变异模式

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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 and newborn child) by next generation sequencing (NGS) of the entireF5gene locus. Five mutations in the coding sequence ofF5, including three missense single-nucleotide variants (R2102H, R513K, D107H) and two synonymous variants (A135A , S184S), were identified and confirmed by the Sanger sequencing in the investigated proband (homozygote for all detected mutations), her parents, and her newborn child (all heterozygotic carriers for identified mutations). Each of the three missense variants was previously associated with separate phenotypes, including Factor V deficiency (R2102H), thrombosis (R513K) and frequent miscarriages (D107H). In addition, at least 75 additional single-nucleotide variants (including six novels) were identified in untranslated region ofF5.
机译：本研究通过整个F5基因位点的下一代测序（NGS）研究了26岁的哥伦比亚（南美）女性及其直系亲属（父母和新生儿）严重V因子缺乏的遗传缺陷。 F5编码序列中的五个突变，包括三个错义单核苷酸变体（R2102H，R513K，D107H）和两个同义变体（A135A，S184S），已通过先证者的Sanger测序进行了鉴定并得到证实（所有检测到的突变均为纯合子） ），她的父母和她的新生婴儿（所有已识别突变的杂合子）。这三个错义变体中的每一个先前都与单独的表型相关，包括因子V缺乏症（R2102H），血栓形成（R513K）和频繁流产（D107H）。另外，在F5的非翻译区中鉴定出至少75个另外的单核苷酸变体（包括六个新奇）。

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