Study On Susceptibility Genes Of Non-syndromic Familial Aortic Dissection

Objective:To screen the susceptibility genes of non-syndromic familial aortic dissection by exome sequencing in the nuclear family of non-syndromic familial aortic dissection.Methods:The blood and case information of non-syndrome family patients and their family members diagnosed as "aortic dissection" in our hospital from October 2008 to July 2020 were screened and collected.Through the experimental steps of DNA extraction,quality detection,library construction,library detection,computer sequencing and bioinformatics analysis of blood samples.The susceptibility genes of non-syndromic familial aortic dissection were further summarized according to biological function,mutation frequency and other factors.Results:The blood and clinical information of 56 members from 4 families were screened and collected.Through sequencing analysis,we found 4 mutational site in 3 mutant genes most associated with non-syndromic familial aortic dissection.COL3A1 gene mutation c.2753G>A(p.G918E),ACTA2 gene mutation c.460G>A(p.v154M),FBN1 gene mutation c.5678A>G(p.N1893S),COL3A1 gene mutation c.1979G>T(p.G660V).Based on a comprehensive analysis of all patients,we found 69 common mutational site in 9 common mutant genes,of which ZNF806 had the highest mutation frequency(36%).Conclusion:Non-syndromic familial aortic dissection has familial aggregation and heredity.Gene sequencing of these nuclear families is the key to screening susceptibility genes and studying the pathogenic mechanism of aortic dissection.