在家族性高胆固醇血症中扩大基因测试 - - 一个中心的经验
Emily E Brown1, Kathleen Byrne1, Erin D Michos1
1Division of Cardiology, School of Medicine, Johns Hopkins University, 600 N. Wolfe St Blalock 572, Baltimore, MD 21287, United States.
针对家族性高胆固醇血症 (FH) 的扩大基因测试在罕见情况下确定了致病变体. 这种方法产生了低但显著的积极结果率,为精选的患者提供了答案.
科学领域:
- 遗传学 遗传学 是一个
- 心血管医学 心血管医学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 家族性高胆固醇血症 (FH) 是一种遗传性疾病,其特征是高的LDL胆固醇水平.
- 基因检测对于诊断FH和识别受影响的家庭成员至关重要.
- 在特定情况下,扩展基因测试可能会提供额外的诊断产量.
研究的目的:
- 评估ABCG5,ABCG8,LIPA和APOE中致病变异的扩展基因测试的诊断产量.
- 评估这种测试在临床怀疑家族高胆固醇血症的个体中的有用性.
主要方法:
- 来自高级脂质疾病诊所 (2015-2023) 的患者的回顾性审查.
- 对家族性高胆固醇血症的基因检测结果的分析,包括对细胞胆固醇血症,APOE和LIPA的扩展面板.
- 测试基因中的致病变异的产量计算.
主要成果:
- 607名患者接受了FH遗传测试;263人进行了扩展测试.
- 在ABCG5和APOE中观察到致病变体的0.7%的低总产量.
- 积极的结果是不确定的意义的变体的两倍.
结论:
- 扩展的基因检测可以在罕见情况下为FH患者识别致病变体.
- 这种方法提供了低但有价值的诊断答案的可能性,不确定变异的风险最小.
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