查看“CHD2”的源代码

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            <strong>CHD2</strong>（<strong>Chromodomain Helicase DNA Binding Protein 2</strong>）是 SNF2 类 ATP 依赖性染色质重塑家族的核心成员。它通过识别特定的组蛋白修饰并改变核小体位置，在神经元分化、脑发育时序控制及 DNA 损伤修复中发挥关键作用。<strong>CHD2</strong> 基因的单倍体不足（Haploinsufficiency）是导致早发性癫痫性脑病、智力发育障碍及自闭症谱系障碍的重要表观遗传因素。在 2026 年的精准医疗体系中，CHD2 突变的早期识别已成为改善难治性癫痫预后的重要临床手段。
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            <div style="font-size: 1.2em; font-weight: bold; letter-spacing: 1.2px;">CHD2</div>
            <div style="font-size: 0.7em; opacity: 0.85; margin-top: 4px;">Gene: Chromodomain Helicase 2 (点击展开)</div>
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                <div style="font-size: 0.8em; color: #64748b; margin-top: 12px; font-weight: 600;">染色质重塑因子 / SNF2家族</div>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0; width: 40%;">基因符号</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">CHD2</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">染色体位置</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">15q26.1</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">Entrez Gene</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">1106</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">UniProt ID</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">O14647</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">HGNC ID</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">1917</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">氨基酸数</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">1828 aa</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">分子量</th>
                    <td style="padding: 8px 12px; border-bottom: 1px solid #e2e8f0;">~211 kDa</td>
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                    <th style="text-align: left; padding: 8px 12px; background-color: #f1f5f9; color: #475569;">突变类型</th>
                    <td style="padding: 8px 12px; color: #b91c1c;">de novo LoF</td>
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    <h2 style="background: #f1f5f9; color: #0f172a; padding: 10px 18px; border-radius: 0 6px 6px 0; font-size: 1.25em; margin-top: 40px; border-left: 6px solid #0f172a; font-weight: bold;">分子机制：表观遗传的动态调控</h2>
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        CHD2 通过其特有的双色结构域（Tandem Chromodomains）识别组蛋白修饰标记，利用 ATP 水解产生的能量驱动核小体滑移，从而开放受抑的基因组区域。
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        <li style="margin-bottom: 12px;"><strong>神经发育开关：</strong> CHD2 在皮层发育的关键窗口期激活神经前体细胞的特定转录程序，其缺失会导致 GABA 能抑制性神经元发育受阻。</li>
        <li style="margin-bottom: 12px;"><strong>DNA 损伤响应：</strong> CHD2 能够迅速募集至双链断裂位点，重塑受损区域的染色质构象，为修复蛋白提供物理可及性。</li>
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    <h2 style="background: #f1f5f9; color: #0f172a; padding: 10px 18px; border-radius: 0 6px 6px 0; font-size: 1.25em; margin-top: 40px; border-left: 6px solid #0f172a; font-weight: bold;">临床图谱：CHD2 相关神经发育障碍</h2>
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                <th style="padding: 12px; border: 1px solid #cbd5e1; color: #0f172a; width: 25%;">主要表型</th>
                <th style="padding: 12px; border: 1px solid #cbd5e1; color: #475569;">特征描述</th>
                <th style="padding: 12px; border: 1px solid #cbd5e1; color: #1e40af;">2026年精准医学共识</th>
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                <td style="padding: 10px; border: 1px solid #cbd5e1; font-weight: 600;">癫痫脑病</td>
                <td style="padding: 10px; border: 1px solid #cbd5e1;">典型 Lennox-Gastaut 综合征表现；具有高度光敏性。</td>
                <td style="padding: 10px; border: 1px solid #cbd5e1;">早期基因确诊可避免不当使用钠通道阻滞剂。</td>
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                <td style="padding: 10px; border: 1px solid #cbd5e1; font-weight: 600;">智力与行为</td>
                <td style="padding: 10px; border: 1px solid #cbd5e1;">重度智力障碍；共患自闭症（ASD）比例极高。</td>
                <td style="padding: 10px; border: 1px solid #cbd5e1;">建议多学科介入，评估行为干预与睡眠管理。</td>
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        <h3 style="margin-top: 0; color: #0f172a; font-size: 1.15em; margin-bottom: 20px; border-bottom: 2px solid #3b82f6; display: inline-block; padding-bottom: 5px;">关键相关概念</h3>
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            <div style="color: #334155;"><strong style="color: #1e40af;">[[染色质重塑]]</strong>：通过消耗 ATP 改变 DNA 与组蛋白结合状态，从而精确调控基因表达的过程。</div>
            <div style="color: #334155;"><strong style="color: #1e40af;">[[单倍体不足]]</strong>：一种遗传机制，指由于一个等位基因的功能丧失，导致蛋白总量无法满足正常生理需求。</div>
            <div style="color: #334155;"><strong style="color: #1e40af;">[[组蛋白密码]]</strong>：组蛋白末端的生化修饰组合，CHD2 通过色结构域识别并“阅读”这些信号。</div>
            <div style="color: #334155;"><strong style="color: #1e40af;">[[GABA神经元]]</strong>：中枢神经系统主要的抑制性神经元，其功能障碍是 CHD2 相关癫痫的核心诱因。</div>
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        <span style="color: #0f172a; font-weight: bold; font-size: 1.05em; display: inline-block; margin-bottom: 12px;">学术参考文献与权威点评</span>
        
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            [1] <strong>Carvill SF, et al. (2013).</strong> <em>Targeted capture and sequencing reveals genetic causes for diffuse encephalopathy.</em> <strong>Nature Genetics</strong>. 45(7):825-830.<br>
            <span style="color: #475569;">点评：该里程碑研究首次确立了 CHD2 突变作为早发性癫痫核心致病基因的地位。</span>
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            [2] <strong>Suls A, et al. (2013).</strong> <em>De novo loss-of-function mutations in CHD2 cause a spectrum of severe epilepsies.</em> <strong>Am J Hum Genet</strong>. 93(5):967-975.<br>
            <span style="color: #475569;">点评：系统阐述了 CHD2 缺陷导致的表型谱，为临床诊断提供了重要的表型参考标准。</span>
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            CHD2 (Chromodomain Helicase 2) · 知识图谱
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                <td style="width: 85px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 10px 12px; text-align: right; vertical-align: middle; white-space: nowrap;">相关分子</td>
                <td style="padding: 10px 15px; color: #334155;">[[H3K4me]] (修饰识别) • [[CTCF]] • [[ASH1L]] • [[CHD1/7/8]] (家族成员)</td>
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                <td style="width: 85px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 10px 12px; text-align: right; vertical-align: middle; white-space: nowrap;">关键疾病</td>
                <td style="padding: 10px 15px; color: #334155;">[[Lennox-Gastaut综合征]] • [[Jeavons综合征]] • [[自闭症]] (ASD) • [[发育性癫痫性脑病]]</td>
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                <td style="width: 85px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 10px 12px; text-align: right; vertical-align: middle; white-space: nowrap;">生物机制</td>
                <td style="padding: 10px 15px; color: #334155;">[[染色质重塑]] • [[核小体滑移]] • [[DNA损伤修复]] • [[神经发生]]</td>
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                <td style="width: 85px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 10px 12px; text-align: right; vertical-align: middle; white-space: nowrap;">研究工具</td>
                <td style="padding: 10px 15px; color: #334155;">[[WES]] (全外显子测序) • [[癫痫基因Panel]] • [[ASO疗法]] (实验性) • [[丙戊酸]] (对症药物)</td>
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