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泰国A型血友病患者的F8变体及其基因型-表型相关性:全国性的多中心研究

Chayanit Trirut¹, Darintr Sosothikul^2,3, Rungnapa Ittiwut^1,4

¹Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Journal of clinical pathology

|July 9, 2024

概括

泰国血友病A患者F8基因的基因分析揭示了与疾病严重程度和抑制剂风险相关的特定变异. 反向转移PCR和WES确定了常见和新型F8突变,有助于表型预测.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
血液学血液学血液学

背景情况:

血友病A (HA) 是一种由因子VIII (FVIII) 缺乏引起的遗传出血疾病.
F8基因突变对于预测FVIII抑制剂的发展和HA表型至关重要.
包括泰国在内的东南亚人口的F8基因变异数据有限.

研究的目的:

为了研究泰国血友病A.患者的F8基因变异.
为了将F8基因变异与HA表型和FVIII抑制剂发展相关联.
提供关于东南亚队列F8基因变异的数据.

主要方法:

从七个治疗中心招募124名泰国HA患者 (2022-2023年).
逆转移聚合酶连锁反应 (IS-PCR) 对于F8-intron 22 (Inv22) 和intron 1 (Inv1) 的反转.
对于没有Inv22/Inv1.1的患者,整体外基因组测序 (WES).

主要成果:

在91.9%的患者中发现了致病性F8变异.
在v22 (30.6%),误解 (23.4%),无意义 (16.9%) 和小插入/删除 (16.1%) 突变是常见的.
在Inv22中,小插入/删除和无意义突变与严重的HA显著相关.
影响轻链的无意义变体增加了FVIII抑制剂的风险.
发现了12种新的F8变种.

结论:

IS-PCR和WES在评估HA中的F8基因变异方面是有效的.
泰国严重的HA在很大程度上是由Inv22驱动的,小插入/删除和无意义的突变.
误解变异更频繁地与非严重的HA表型相关.

关键词:

遗传性疾病,先天性疾病血友病A型血友病A型血友病血液静止血液静止血液静止

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