微型中的基因型-表型关联:系统性审查
Siti Isya Wahdini1, Fina Idamatussilmi1, Rachmaniar Pramanasari2
1Plastic Reconstructive and Aesthetic Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada /Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Orphanet journal of rare diseases
|April 9, 2024
概括
这一系统性审查确定了像TCOF1和GSC这样的关键基因,这些基因参与了微的发展和相关的头异常. 研究结果揭示了基因型-表型关联,突出了这种先天性耳部形的遗传基础.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 微小耳朵是一种先天性耳朵形,病因不明,尽管遗传学起着重要作用.
- 本综述侧重于识别与微病相关的基因和头部/部异常.
研究的目的:
- 系统地审查和识别与微发展相关的基因.
- 为了确定微病患者常见的头部和部异常.
- 探索微型中的基因型-表型关联.
主要方法:
- 在七个数据库中进行了系统的文献搜索,寻找微型的遗传和表型变量.
- 出版物被选,根据包含/排除标准进行选择,并使用JBI批判性评估工具对质量进行评估.
- 分析了来自40篇有表型数据 (1459名患者) 和30篇有遗传数据的论文的数据.
主要成果:
- 外耳道形是最常见的表型;耳朵,精神和口腔区域最常受到影响的头部和部异常.
- 面显微症综合征是最常见的相关综合征.
- 发现的关键基因包括TCOF1,SIX2,综合征性微病中的HSPA9,以及非综合征性微病中的GSC,FANCB,HOXA2,MARS1,CDT1.
结论:
- 已确定涉及微菌的基因包括TCOF1,SIX2,HSPA9,GSC,FANCB,HOXA2,MARS1和CDT1. 这几种基因.
- 发现了微小的基因型-表型关联.
- 需要进一步的综合数据研究,以充分阐明微的遗传和表型景观.
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