The invention provides a mutant gene. The mutant gene is characterized in that the mutant gene is obtained through at least one mutation type of the following eight types comprising c. 4987T>G, c. 3617G>A, c. 5032T>G, c. 4087G>A, c. 4588C>T, c. 2861G>T, c. 718C>T and c. 4460A>G based on a human FBN1 gene. The invention further provides application of a related reagent used for detecting the mutation sites of the c. 4987T>G, the c. 3617G>A, the c. 5032T>G, the c. 4087G>A, the c. 4588C>T, the c. 2861G>T, c. 718C>T and/or the c. 4460A>G of the human FBN1 gene in preparation of a screening reagentfor the Marfan syndrome. The mutation of the sites of the c. 4987T>G, the c. 3617G>A, the c. 5032T>G, the c. 4087G>A, the c. 4588C>T, the c. 2861G>T, c. 718C>T and/or the c. 4460A>G of the human FBN1gene is applied to preparation of the auxiliary diagnostic kit for the Marfan syndrome, and the screening purpose can be achieved.