非综合征性唇腭裂遗传学研究进展
Human genetic factors in nonsyndromic cleft lipand palate: An update
非综合征性唇腭裂表现为上唇和口腔腭部不完全裂开,是发生在儿童中最常见的出生缺陷,呈现多种表型,不伴有身体其他部位异常。目前被认为是多基因遗传病,是由基因和环境因子的相互作用引起的。以往研究报道了大量唇腭裂相关基因,包括转录调节因子、生长因子、细胞信号传导和解毒代谢等。本文就以往连锁和关联研究中的多个遗传位点和候选基因进行综述。尽管以往观察和报道取得令人瞩目的进展,大量候选基因和遗传变异在非综合征性唇腭裂的作用还有待进一步探索。?????
Nonsyndromic cleft lip and/or palate (NSCLP) is a malformation characterized by an incomplete separation between nasal and oral cavities without any associated anomalies, which is one of the most common malformations among live births. Genetic studies have demonstrated that NSCLP is largely attributed to the interactions of the environment and multiple genes, each potentially having certain effects. Numerous genes have been reported in studies demonstrating associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factors, growth factors, cell signaling and detoxification metabolisms. This review compiles the evidence that supports linkage and associations to the various genetic loci and candidate genes. Whereas significant progress has been made in the field of cleft lip and palate genetics in the past decade, the role of the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype remain to be determined.?????
焦晓辉、宋涛、史金娜
口腔科学遗传学
唇腭裂非综合征性唇腭裂遗传?
cleftNonsyndromic cleftGenetic
焦晓辉,宋涛,史金娜.非综合征性唇腭裂遗传学研究进展[EB/OL].(2016-10-27)[2025-08-23].http://www.paper.edu.cn/releasepaper/content/201610-191.点此复制
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