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Updated: Mar 7, 2026

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A Rapid In Vivo Bioassay for Developmentally Active Enhancers
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HOXD12 是一种新型的综合多动症候选基因
Hammal Khan1, Muhammad Bilal2, Thashi Bharadwaj3
1Department of Biosciences, COMSATS University, Islamabad, Pakistan; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Bone
|March 5, 2026
概括
一种罕见的四肢形症 - - 综合形症 (Synpolydactyly) 与巴基斯坦一家的新型HOXD12基因变异有关. 这一发现扩大了对这种复杂的先天性疾病的遗传理解.
科学领域:
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
- 整形外科 整形外科 整形外科
背景情况:
- 综合多动性是一种罕见的四肢形,结合了综合多动性和多动性.
- 它通常遵循一种自体主导遗传模式,具有可变的透率.
- 已知的遗传原因包括HOXD13,FBLN1,GLI3和TTC30B的变异.
研究的目的:
- 为了调查巴基斯坦一家人以前未曾报告过的一种协同多肢症的遗传基础.
- 为了确定负责观察到的肢体形的特定基因突变.
主要方法:
- 临床检查一家三代人患有综合多动的家庭.
- 来自受影响和未受影响的家庭成员的DNA样本的整体外基因组测序.
- 分离分析以确认鉴定变异与表型的关联.
主要成果:
- 在HOXD12基因中发现了一种新的误解变异 (NM_021193.4:c.512A>G, p.
- 这种HOXD12变异在所有受影响的家庭成员中与同聚性菌表型分离.
- 这家人出现了严重的手部联动动和前轴联动多动,但缺乏足部联动动.
结论:
- 一种HOXD12基因变异被认为是这种特定的综合多样性呈现的原因.
- 这项研究是首次报告HOXD12参与协同多动的病因,扩大其在肢体发育中的已知作用.
- 这些发现有助于理解肢体形的遗传异质性.
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