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find Keyword "全外显子测序" 2 results
  • 特发性震颤的遗传学研究进展

    特发性震颤(essential tremor,ET)是最常见的成年起病的神经系统变性疾病之一。ET 分为家族性和散发性 2 种,约一半以上患者存在家族史,遗传因素可能发挥着重要作用。目前,大量研究致力于寻找 ET 发病的风险位点及致病基因。进行 ET 遗传学分析有助于进一步研究其病理生理机制,因此文章从该病的单基因遗传模式及复杂疾病遗传模式 2 个方面对 ET 的遗传学进展进行了阐述。

    Release date:2017-05-18 01:09 Export PDF Favorites Scan
  • Pathogenic gene screening in a family with juvenile open-angle glaucoma

    Objective To identify genes associated with juvenile open-angle glaucoma (JOAG) by screening for gene mutation loci and clinical phenotype analysis in a JOAG family. Methods In January 2021, an ophthalmic examination was performed on members of a family with JOAG. Whole-exome sequencing was done on the proband to look for pathogenic genes. Family members were validated using Sanger sequencing, and a long-term follow-up was conducted. Results Three generations of the family comprised eight individuals, including three patients with JOAG. All patients carried a missense mutation in the MYOC gene c.1130C>G (p.Thr377Arg), which showed autosomal dominant inheritance. Other unaffected family members were not found to have the mutation. Conclusion The c.1130C>G (p.Thr377Arg) mutation in the MYOC gene may be responsible for the pathogenesis of this JOAG family.

    Release date:2024-12-27 02:33 Export PDF Favorites Scan
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