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患有非综合征性口唇裂患者的MSX1基因多态:来自中喀拉拉州的第三级护理中心的病例控制研究

Arun Jyothish¹, Alex George², Puthucode V Narayanan³

¹School of Biotechnology, National Institute of Technology Calicut, Calicut, Kerala, India.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

|November 16, 2023

概括

MSX1基因的遗传变异,特别是c.799和c.458的遗传变异,与患非综合征裂口唇 (NSCLP) 的风险增加有关. 这些MSX1基因多态性被确定为研究人口中的显著风险因素.

科学领域:

遗传学遗传学是一个
发展生物学发展生物学
口腔和牙面部外科手术

背景情况:

非综合征性唇裂 (NSCLP) 是一种常见的先天性异常,具有复杂的病因.
众所周知,遗传因素在NSCLP的发展中起着重要作用.

研究的目的:

调查MSX1基因多态化与NSCLP风险之间的关联.
确定可能导致NSCLP发展的特定MSX1基因变异.

主要方法:

采用病例控制研究设计,对100个NSCLP病例和100个对照进行了研究.
用限制片段长度多态化 (RFLP) 进行基因型鉴定.
用SISA和SNPstats网络工具分析了等位基因和基因型频率.

主要成果:

在c.799 (G>T) 和c.458 (C>A) 的NSCLP和MSX1基因多态之间发现了显著的关联.
鉴定出c.799 GT和c.458 CA基因型以及c.799 T和c.458 A等位基因为主要的风险因素.
c.799和c.458的异合体基因型在NSCLP女性中显示出更强的关联.

结论:

在c.799 G>T和c.458 C>A的MSX1基因变异是NSCLP的潜在遗传风险因素.
这些发现表明,这些MSX1多态对NSCLP有特定的贡献.
建议对更大的队列进行进一步研究,以验证这些结果.

关键词:

在MSX1中,MSX1是在NSCLP中,它是NSCLP.RFLP和风险分析面部或脸部的裂.

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