A whole genome sequencing result and preliminary analysis of a primary gout pedigree / 中华内分泌代谢杂志

ABSTRACT

Objective@#To screen gene mutation information of gout pedigree through whole genome sequencing and to carry out preliminary analysis.@*Methods@#One typical gout pedigree was selected as the study subjects. The clinical data and the peripheral blood samples were collected and constructed charts of the pedigree. DNAs were extracted from peripheral blood and analyzed by the whole genome sequencing, and by the software analysis and comparison, screening out the pathogenic genes and related mutations. Then the verifications were conducted in the family members and the controls. Bioinformatics software was applied to predict the effect of mutation on gene expression.@*Results@#Based on the sequencing results, advanced informational analysis was performed to screen out the mutations 1040-8 A> G near the 5 ′end near the exon 8 of the PLAA gene. The results showed that all the gout patients in the family had 1040 -8 A> G sites, and none of the mutants were found in the non-gout group and 200 controls; bioinformatics analysis suggested that the mutation could affect PLAA gene expression, but not affecting PLAA mRNA structure.@*Conclusion@#PLAA gene 1040-8 A> G mutation is separated from patients in the gout pedigree, and the newly discovered PLAA gene may act as a gout pathogenic gene.