Study on the Mutation of FⅨ Gene in 31 Patients with Type B Hemophilia.

IF 2.3 4区 医学 Q2 HEMATOLOGY
Danjuan Liu, Rongjie Guo, Min Chen, Bingbing Shi, Junting Weng, Zhifang Fu
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Abstract

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.

关于 31 例 B 型血友病患者 FⅨ 基因突变的研究
血友病 B(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。本研究设计了八对引物,覆盖 FⅨ 基因的八个外显子,并使用 PCR 和 DNA 测序技术检测了 31 名 HB 患者的 FⅨ 基因突变。利用 Blast 上的 Chromas 软件将测序结果与正常序列进行比较,以确定突变位点。结果显示,在中国人群中,CpG二核苷酸区是突变热点,第192个核苷酸(FⅨ192)是二核苷酸多态性位点。致病突变包括点突变、缺失、插入以及影响氨基酸或剪接位点的突变。对于只有多态位点的病例,需要进一步进行外显子测序。这项研究为全球乙型肝炎数据库增添了新的突变数据,支持了对FⅨ基因突变的种族差异的研究,并为国内乙型肝炎的统计工作做出了贡献。研究结果有助于理解FⅨ基因在凝血过程中的作用,阐明HB的发病机制,并为未来的基因治疗提供依据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
4.40
自引率
3.40%
发文量
150
审稿时长
2 months
期刊介绍: CATH is a peer-reviewed bi-monthly journal that addresses the practical clinical and laboratory issues involved in managing bleeding and clotting disorders, especially those related to thrombosis, hemostasis, and vascular disorders. CATH covers clinical trials, studies on etiology, pathophysiology, diagnosis and treatment of thrombohemorrhagic disorders.
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