Investigation of single nucleotide variations in exon ۳ of AURKC gene in aneuploid aborted fetuses

Background and Aim: Aneuploidy is one of the most common cause of spontaneous miscarriage. Although aneuploidy is associated with advanced maternal age, it is frequent in young women. Aurora kinas c (AURK C) protein is a chromosomal passenger protein that forms complexes with inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function. The aim of this study was to evaluate the probably role of c.۱۴۵delc and c.۱۸۴C>T variants, with pathogenic and uncertain significance, respectively, and the entire exon ۳ of the AURKC gene in aneuploidy of aborted fetuses.Methods: Fifty fetuses of the mothers younger than ۳۶ years samples with approved aneuploidy using quantitative fluorescence polymerase chain reaction (QF-PCR) and/or array comparative genomic hybridization (aCGH) were include. Exon ۳ of the AURKC was studied using the Sanger sequencing for the Single Nucleotide Variant (SNV) detection, certainly rs۳۹۷۵۱۵۶۱۹ and rs۸۸۶۰۵۴۶۴۵ as SNVs related to the aforementioned variants. The sequencing results were analyzed by finch TV software.Results: No heterozygous and homozygous c.۱۴۵delc and c.۱۸۴C>T variants were observed in the samples. No other SNV was detectable in the exon ۳ of AURKC.Conclusion: Since the allele frequencies of the variants of interest, c.۱۴۵delc and c.۱۸۴C>T of the AURKC gene were zero in ۵۰ studied samples, they would not be prioritized for screening of the SNVs that are clinically important in parents with history of miscarriage due to aneuploidy.

Keywords:

Miscarriage , Aneuploidy , AURKC gene , Single Nucleotide Variant (SNV)