Gorji Raziyeh, Borjian-Boroujeni Parnaz, Bazrgar Masood
Department of Molecular Genetics, Faculty of Basic Sciences and advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran.
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Mol Biol Res Commun. 2025;14(2):143-147. doi: 10.22099/mbrc.2024.51170.2037.
Chromosome aberrations certainly aneuploidie are the cause of the majority of spontaneous abortions in humans. (budding uninhibited by benzimidazole 1) and (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 and pathogenic variants in abortion of the fetuses with aneuploidy. Fifty aborted fetuses with approved aneuploidy using array comparative genomic hybridization (aCGH) were included. and 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 and 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.
染色体畸变尤其是非整倍体是人类大多数自然流产的原因。（芽殖不受苯并咪唑1抑制）和（BUB1有丝分裂检查点丝氨酸/苏氨酸激酶B）是介导纺锤体检查点激活的两种关键蛋白质，它们在抑制后期促进复合物/细胞周期体（APC/C）、延迟后期开始以及确保正确的染色体分离中发挥作用。本研究旨在评估和的致病变体在非整倍体胎儿流产中的可能作用。纳入了50例经阵列比较基因组杂交（aCGH）确诊为非整倍体的流产胎儿。使用桑格测序法研究和基因以检测单核苷酸变体（SNV），确定rs121909055和rs28989185为致病目标变体。测序结果用finch TV软件进行分析。在样本中未观察到靶向SNV的纯合或杂合变体。在所有样本的和基因分析部分未检测到其他SNV。由于在50个研究样本中感兴趣变体的等位基因频率为零，因此在有非整倍体流产史的父母中，这些SNV不会被优先用于筛查。
