| 王梦莹,刘冬静,黄辉,李文咏,周仁,朱洪平,周治波,吴涛.非综合征型唇腭裂二代测序研究进展[J].中华流行病学杂志,2018,39(3):387-390 |
| 非综合征型唇腭裂二代测序研究进展 |
| Progress in next-generation sequencing research of non-syndromic oral clefts |
| 收稿日期:2017-07-23 出版日期:2018-03-21 |
| DOI：10.3760/cma.j.issn.0254-6450.2018.03.026 |
| 中文关键词: 非综合征型唇腭裂 遗传易感因素 二代测序研究 |
| 英文关键词: Non-syndromic oral clefts Genetic risk factors Next-generation sequencing research |
| 基金项目:国家自然科学基金（81102178，81573225）；北京市自然科学基金（7172115） |
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| 中文摘要: |
| 非综合征型唇腭裂（NSOC）是一种常见的出生缺陷。中国活产儿NSOC患病率为1.13/1 000活产儿～1.30/1 000活产儿，高于其他种族人群。NSOC是受基因和环境因素共同作用的复杂疾病，虽然全基因组关联研究发现了NSOC的多个遗传致病位点，但目前发现的遗传位点只能解释NSOC一小部分遗传度，未被解释的遗传度可能来自罕见遗传变异、拷贝数变异以及交互作用等。二代测序研究为进一步探索NSOC遗传危险因素提供了新的方法和思路，本文将对NSOC二代测序研究进行综述。 |
| 英文摘要: |
| Non-syndromic oral clefts (NSOC) are among the most common birth defects. The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China, which is higher than those in other major ethnic groups. The etiology of NSOC is complex and heterogeneous, which involves both genetic and environmental risk factors. Although genome-wide association studies have identified a number of risk loci, these loci can only account for a small proportion of the heritability of NSOC. The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC. This paper summaries the progress in the next-generation sequencing research of NSOC. |
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