Investigation of single nucleotide variations in exon ۶ of AURKC gene in aneuploid aborted fetuses of women younger than ۳۶ years

Background and Aim: Aneuploidy is one of the main causes of miscarriage. Although fetal aneuploidy is associated with maternal age, it is incident in young women. Molecular factors related to aneuploidy are almost known but aneuploidy itself supposed as the reason of miscarriage without consideration to its molecular origin. The AURKC is an essential protein kinase in the cell cycle that plays a checkpoint role in the metaphase of the cell in the proper cleavage of chromosomes and its dysfunction may decrease the accuracy of chromosome segregation, resulting in abnormal cell division.Methods: fifty two DNA samples from aborted fetuses with aneuploidy, according to QF-PCR and/or array CGH results, were obtained from women under the age of ۳۶ to remove the maternal age effect as a contributing factor to aneuploidy and make more confidence on probably contribution of molecular factors in observed aneuploidy. We investigated the effect of single nucleotide variants in the exon ۶ of AURKC gene certainly the only reported pathogenic variant in AURKC, rs۱۲۱۹۰۸۶۵۴, by using of PCR and Sanger sequencing and analyzed the results by finchTV software.Results: No heterozygote or homozygote sample was found related to rs۱۲۱۹۰۸۶۵۴ in the ۵۲ studied samples. No other variant was detected in exon ۶ of the AURKC gene Conclusion: Due to this fact that the target variation was not observed in ۵۲ studied samples, this variant (rs۱۲۱۹۰۸۶۵۴) is not a priority for probably future screening of aneuploidy origin in parents with miscarriage history due to aneuploidy.

کلیدواژه ها:

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