[基于多PCR向测序技术的儿童自闭症谱系障碍相关的遗传多态的分子诊断]
1Children's Hospital Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University/Department of Rehabilitation Medicine, Huangshi Maternity and Children's Health Hospital, Huangshi 435000, China Children's Hospital Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University/Huangshi Maternity and Children's Health Hospital, Huangshi Key Laboratory of Birth Defects Prevention, Huangshi 435099, China.
概括
一种新的多重PCR向测序方法识别了与儿童自闭症谱系障碍 (ASD) 相关的特定基因突变 (RELN和AUTS2). 这项技术显示出作为诊断生物标志物用于早期ASD识别的潜力.
科学领域:
- 遗传学 遗传学 是一个
- 生物标志物 生物标志物
- 儿科医学 儿科医学
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,具有重要的遗传成分.
- 确定可靠的ASD遗传生物标志物对于早期诊断和干预至关重要.
研究的目的:
- 建立多重PCR向测序技术,用于检测自闭症相关基因中的单核酸多态 (SNP) 位点.
- 为了评估这项技术的诊断价值,我们确定了SNP位点作为儿童ASD的生物标志物.
主要方法:
- 文献审查确定了357个候选风险基因和603个与ASD相关的突变部位.
- 使用MFEprimer软件设计的多重PCR初始化库.
- 对105名患有自闭症儿童和71名健康对照进行了向基因测序,随后进行了桑格测序验证.
主要成果:
- 多重PCR向测序在患有自闭症儿童和健康对照儿童 (P<0.01) 之间发现了RELN (rs12666897) 和AUTS2 (rs3735260) 突变频率的显著差异.
- 对于RELN (rs12666897) 的突变频率在ASD病例中为40.00%,对照组为18.31%;对于AUTS2 (rs3735260),它们在ASD病例中为20.95%,对照组为5.63%.
- 桑格测序证实了多重PCR结果,表明高精度.
结论:
- 开发的多重PCR定向高通量测序技术有效地选了ASD儿童的遗传变异.
- 特定的候选基因多态位点,如RELN (rs12666897) 和AUTS2 (rs3735260),与儿童的自闭症风险密切相关.
- 这些已识别的SNP位点有可能成为用于ASD识别的新型诊断生物标志物.
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