In this paper, the gene mutation detection in the research group and the control group collected through the investigation and combined with clinical analysis, the following conclusions are drawn: several popular genes PAX9, MSX1, EDA, AXIN2, etc. Missing teeth and related diseases (cleft lip and palate, ectodermal hypoplasia, colorectal tumorigenesis, etc.)have research significance. The gene discussed is AXIN2; the disease is cleft lip.