The Novel Mutations of Unexplained Abortion Were Analyzed at the Nucleotide Level and Classified According to Gene Function

Background Abortion is a major problem affecting women's normal reproductive life. Non-whole chromosomes account for about 50% of abortions. In around 50% of cases, the etiology remains unknown. The present analysis was aimed to screen the mutations at the nucleotide level and detected new genetic origins of human diseases. Results 72 abortion tissues (with abnormal chromosome reason excluded) were recruited and whole-genome low coverage mate-pair sequencing (WGL-MPS) was performed on each tissue. And used 100 healthy human data as a background control to find specific relevant genes and mutations with stringent bioinformatics analysis. We merged 72 abortion samples after sequencing. 28 sequence mutations in 25 genes potentially associated with unexplained abortion were identified in abortion. These 25 genes were divided into six classifications, including fetal development, cell cycle, genital correlation, kidneys, nerve, and other know functions. The mutation frequency of these sites was greater than 20% compared with the reference sequence in merged abortion data. The frequency of mutations in the samples of the control group at these sites was less than 1%. Furthermore, we verified by 10 unexplained abortion tissues, seven of which had above mutations sites on these 25 genes.Conclusions We identified 28 mutations in 25 genes mutation that may be associated with unexplained abortion, and some were associated with embryonic development. In conclusion, the results of the present study provide a good research direction for unexplained abortions.

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