【摘要】 非综合征型唇腭裂的发病机制尚不明确,目前倾向于认为其属于遗传因素和环境因素共同作用的多基因遗传疾病。通过采用微阵列比较基因组杂交技术、全基因组关联研究、下一代测序、动物模型等遗传学策略,越来越多的候选基因及位点得以发现,为全面理解颌面部发育机制及唇腭裂发病病因提供了新的手段。本文就其中一些主要的遗传学方法及候选基因、位点和信号通路的研究进展作一综述。更多还原

【Abstract】 Nonsydromic cleft lip with or without cleft palate(NSCL/P) is considered to be multifactorial disease, which is affected by heredity and environment together. However, the etiology has not yet been elucidated. By using genetic methods such as micro-array comparative genomic hybridization, genome-wide association studies, next generation DNA sequencing and animal models, several candidate genes and locus had been found, which provided a way for comprehensive understanding of maxillofacial development mechanism and etiology of cleft lip and palate. In this review,we mainly focused on the research progress on genetic approaches, candidate gene/loci and signal pathways involved in NSCL/P.更多还原