The cause of discoid meniscus: a genomic exploring research

Abstract

Abstract Background: Discoid meniscus is a congenital structural variation of the meniscus. But, its pathogenesis is still unknown. This study aims to find the related genes of this disease through genomics and bioinformatics methods. Methods and Material: In this study, we recruited 10 patients who were diagnosed with discoid meniscus. DNA were extracted peripheral venous blood from patients respectively, and were broken to fragments about 250-300bp. DNA fragments accepted repairing, connecting, purifying and PCR. The whole exon sequencing performed at these fragments via sequencing platform. The data which output by the platform were dealt with some bioinformatic tools. Last, the genetic and protein damage prediction were put down to variant. Statistical analysis used: Mann-Whitney U test, and the statistical significance is P<0.05, and 95% confidence was calculated. Results: The discrepancy of the counts between male and female group is inconspicuous(P<0.05). Based on bioinformatic analysis, we found 9 pathological gene (AFF1, KCTD1, NRF1, PADI4, FLNB, SYNE1, MYO9A, COL11A2 and COL2A1). Although 10 common variants were founded in this study, 7 variants exert subtle on protein. The most harmful sites belong to AFF1, KCTD1, NRF1, PADI4, FLNB, SYNE1, MYO9A. Conclusions: We screened a total of 9 suspected pathogenic genes. we supposed that the formation of the discoid meniscus is not caused by a single gene mutation.