Department of Critical Care Medicine, the Affiliated Hospital of Putian University, Putian 351100, China.
Department of Clinical lab, Zhenhai Street Community Health Service Center, Licheng District, Putian, 351100, Fujian, China.
Clin Appl Thromb Hemost. 2024 Jan-Dec;30:10760296241275454. doi: 10.1177/10760296241275454.
Hemophilia B (HB) is an inherited bleeding disorder caused by defects in the FⅨ gene, leading to severe coagulation dysfunction. This study designed eight pairs of primers covering eight exons of the FⅨ gene and used PCR and DNA sequencing to detect FⅨ gene mutations in 31 HB patients. Sequencing results were compared with normal sequences using Chromas software on Blast to identify mutation sites. Findings revealed the CpG dinucleotide region as a mutation hotspot and the 192nd nucleotide (FⅨ192) as a dinucleotide polymorphism site in the Chinese population. Pathogenic mutations included point mutations, deletions, insertions, and mutations affecting amino acids or splicing sites. For cases with only polymorphic sites, further exon sequencing is needed. This study adds new mutation data to the global HB database, supports research on racial differences in FⅨ gene mutations, and contributes to domestic HB statistics. The results aid in understanding the FⅨ gene's role in coagulation, elucidating HB pathogenesis, and providing a basis for future gene therapy.
乙型血友病（HB）是一种遗传性出血性疾病，由 FⅨ 基因缺陷引起，导致严重的凝血功能障碍。本研究设计了 8 对引物，涵盖 FⅨ 基因的 8 个外显子，采用 PCR 和 DNA 测序技术检测 31 例 HB 患者的 FⅨ 基因突变。使用 Chromas 软件在 Blast 上对测序结果与正常序列进行比较，以确定突变位点。结果发现 CpG 二核苷酸区域是突变热点，192 号核苷酸（FⅨ192）是中国人群中的二核苷酸多态性位点。致病性突变包括点突变、缺失、插入以及影响氨基酸或剪接位点的突变。对于仅有多态性位点的病例，需要进一步进行外显子测序。本研究为全球 HB 数据库增添了新的突变数据，支持 FⅨ 基因突变的种族差异研究，并为国内 HB 统计做出贡献。研究结果有助于了解 FⅨ 基因在凝血中的作用，阐明 HB 的发病机制，并为未来的基因治疗提供依据。
