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Gorji, Raziyeh, Borjian-Boroujeni, Parnaz, Bazrgar, Masood. (1404). Pathogenic variants of BUB1 and BUBR1 genes are not prioritized in screening tests of couples with aborted aneuploid fetuses. , 14(2), 143-147. doi: 10.22099/mbrc.2024.51170.2037
Raziyeh Gorji; Parnaz Borjian-Boroujeni; Masood Bazrgar. "Pathogenic variants of BUB1 and BUBR1 genes are not prioritized in screening tests of couples with aborted aneuploid fetuses". , 14, 2, 1404, 143-147. doi: 10.22099/mbrc.2024.51170.2037
Gorji, Raziyeh, Borjian-Boroujeni, Parnaz, Bazrgar, Masood. (1404). 'Pathogenic variants of BUB1 and BUBR1 genes are not prioritized in screening tests of couples with aborted aneuploid fetuses', , 14(2), pp. 143-147. doi: 10.22099/mbrc.2024.51170.2037
Gorji, Raziyeh, Borjian-Boroujeni, Parnaz, Bazrgar, Masood. Pathogenic variants of BUB1 and BUBR1 genes are not prioritized in screening tests of couples with aborted aneuploid fetuses. , 1404; 14(2): 143-147. doi: 10.22099/mbrc.2024.51170.2037

Pathogenic variants of BUB1 and BUBR1 genes are not prioritized in screening tests of couples with aborted aneuploid fetuses

Molecular Biology Research Communications
دوره 14، شماره 2، 2025، صفحه 143-147    اصل مقاله (270.99 K)
نوع مقاله: Short communication
شناسه دیجیتال (DOI): 10.22099/mbrc.2024.51170.2037
نویسندگان
Raziyeh Gorji1؛ Parnaz Borjian-Boroujeni2؛ Masood Bazrgar* 2
1Department of Molecular Genetics, Faculty of Basic Sciences and advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran
2Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
چکیده
Chromosome aberrations certainly aneuploidie are the cause of the majority of spontaneous abortions in humans. BUB1 (budding uninhibited by benzimidazole 1) and BUBR1 (BUB1 mitotic checkpoint serine/threonine kinase B) are two key proteins mediating spindle-checkpoint activation that play a role in the inhibition of the anaphase-promoting complex/ cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. This study aimed to evaluate the probable roles of BUB1 and BUBR1 pathogenic variants in abortion of the fetuses with aneuploidy. Fifty aborted fetuses with approved aneuploidy using array comparative genomic hybridization (aCGH) were included. BUB1 and BUBR1 genes were studied using the Sanger sequencing for the single nucleotide variant (SNV) detection, certainly rs121909055 and rs28989185 as the pathogenic target variants. The sequencing results were analyzed by finch TV software.Neither homozygous nor heterozygous variant of the targeted SNVs was observed in the samples. No other SNV was detectable in the analyzed parts of the BUB1 and BUBR1 genes in all samples. Since the allele frequencies of the variants of interest were zero in 50 studied samples, these SNVs would not be prioritized for screening in the parents with a history of miscarriage due to aneuploidy.
کلیدواژه‌ها
Aneuploidy؛ Spontaneous abortion؛ BUB1؛ BUBR1
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