Background: Spontaneous abortion is a common disease in obstetrics and reproduction.
Objective: This study aimed to screen candidate pathogenic genes for spontaneous abortion using
Methods: Genomic DNA was extracted from abortion tissues of spontaneous abortion patients and
sequenced using the Illumina HiSeq2500 high-throughput sequencing platform. Whole exome sequencing
was performed to select harmful mutations, including SNP and insertion and deletion
sites, associated with spontaneous abortion. Gene Ontology (GO) and Kyoto Encyclopedia of
Genes and Genomes (KEGG) pathway enrichment analyses and gene fusion analyses were performed.
MUC3A and PDE4DIP were two novel mutation genes that were screened and verified by
PCR in abortion tissues of patients.
Results: A total of 83,633 SNPs and 13,635 Indel mutations were detected, of which 29172 SNPs
and 3093 Indels were screened as harmful mutations. The 7 GO-BP, 4 GO-CC, 9 GO-MF progress,
and 3 KEGG pathways were enriched in GO and KEGG pathway analyses. A total of 746 gene fusion
mutations were obtained, involving 492 genes. MUC3A and PDE4DIP were used for PCR verification
because of their high number of mutation sites in all samples.
Conclusion: There are extensive SNPs and Indel mutations in the genome of spontaneous abortion
tissues, and the effect of these gene mutations on spontaneous abortion needs further experimental