在阿拉伯人口腔裂的遗传关联
Lateefa Alkharafi1, Saud Alhasawi2, Hisham Burezq1
1Cleft and Craniofacial Unit, Ministry of Health, Safat, Kuwait.
概括
两种特定的单核酸多态 (SNP) 的遗传变异与非综合征裂纹唇带或没有 palates (NCLP) 的增加易感性有关. 这一发现支持对口腔裂的基因测试.
科学领域:
- 遗传学 遗传学 是一个
- 口腔和牙面部外科手术
- 公共卫生 公共卫生
背景情况:
- 非综合症 带有或没有的裂唇 (NCLP) 是一种常见的先天性异常,具有复杂的病因.
- 以前的全基因组关联研究 (GWAS) 已经确定了与NCLP相关的几个单核酸多态 (SNP).
研究的目的:
- 调查NCLP与14个先前与该疾病相关的特定SNP之间的遗传关联.
- 分析这些SNP在阿拉伯人口中的患病率.
主要方法:
- 一项前性病例控制研究,涉及164名NCLP患者和491名对照.
- 从全血中提取基因组DNA,然后使用实时PCR进行基因型鉴定.
- 使用后勤回归和Benjaminini-Hochberg纠正错误发现率的统计分析.
主要成果:
- 两个SNP,LOC102724968 (rs13041247) 和PVT1 (rs987525),显示出与NCLP的统计学上显著的关联.
- 对这两种SNP的NCLP病例和对照病例之间,等位基因频率有显著差异,表明敏感性增加.
结论:
- 特定的遗传变异与研究人口中口腔裂的发生有关.
- 建议为阿拉伯族裔开发一个定制的下一代测序 (NGS) 面板.
- 建议扩大国家预孕基因载体查,包括面异常.
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