先天缺牙属于牙齿发育异常中牙的数目异常,在临床中是较为常见的疾病,不仅影响患者的咀嚼功能,而且影响其发音、容貌和心理健康。目前遗传连锁和分子生物学研究使得部分综合征性和非综合征性牙缺失的基因突变得以定位。尽管作用机制尚未明了,但现已知涉及的重要突变因子有很多,本文就近年来与综合征性和非综合征性牙缺失相关的基因研究作一综述。 Inborn teeth lack of teeth abnormalities in the number of abnormal teeth, is a more common clinical disease, not only affect the patient’s masticatory function, but also affect their pronunciation, appearance and mental health. Genetic linkage and molecular biology studies have led to the identification of mutations in some of the syndromes and nonsyndromic teeth. Although the mechanism of action is not yet clear, but now there are many important mutation factors that are known to be involved. In this paper, we review the recent studies on the gene related to the syndrome of non-syndromic and non-syndromic teeth.