蛋白质血栓G20210A突变在北印度患有血栓栓塞事件的患者中罕见但并不缺席
Priti Satyarthi1, Debadrita Ray1, Vasant Kumar1
1Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
概括
前激素基因G20210A突变 (PGM) 在北印度患者中罕见,发生血栓栓塞事件,在0.41%的病例中发现. 尽管它很稀缺,但PGM仍然存在.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 血栓形成研究研究
背景情况:
- 长期以来,人们一直认为印度没有前素基因G20210A突变 (PGM).
- 最近的报道表明,在少数印度患者中存在PGM,需要进行流行率评估.
- 血栓栓塞栓事件,包括深静脉血栓症 (DVT) 和脑静脉鼻血栓症 (CVT),是严重的健康问题.
研究的目的:
- 为了确定发生血栓栓塞事件的北印度患者中原血栓基因G20210A突变 (PGM) 的患病率.
- 评估与其他遗传性和获得性血栓友爱症标志物结合PGM的频率.
主要方法:
- 研究了一组来自北印度的509名患有血栓栓塞事件 (DVT,CVT/CSVT) 的患者.
- 血栓友工作包括对蛋白C,蛋白S,抗血栓,狼抗凝剂,抗ACA和抗ß2GP1抗体的测试.
- 聚合酶链反应-限制片段长度多态 (PCR-RFLP) 用于检测PGM和V因子莱登 (FVL) 突变.
主要成果:
- 在509名患者中,42名 (8.2%) 患有遗传性血栓性病,11名 (2.1%) 患有获得性血栓性病.
- 因子V莱登 (FVL) 突变是最常见的遗传缺陷,在31名 (6%) 患者中发现.
- 仅在2名患者 (0.41%) 中检测到前原蛋白基因G20210A突变 (PGM),这证实了它在这个人群中的罕见性.
结论:
- 在北印度患者中,PGM的患病率较低 (为0.41%),包括DVT,中风和CVT.
- 尽管很罕见,但PGM的存在强调了它与血栓塞栓性疾病的潜在关联.
- 北印度人常规PGM测试的临床实用性仍然值得怀疑,因为其流行率很低.
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