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Submicroscopic chromosomal imbalances contribute to early abortion

机译:亚颌骨染色体失衡有助于早期堕胎

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Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find out whether submicroscopic chromosomal imbalances contribute to early abortion. A total of 78 chorionic villus specimens from early spontaneous abortion patients with no obvious abnormality are collected after miccroassay analysis (the case group). At the same time, 60 chorionic villus specimens from induced abortion patients with no obvious abnormality are selected as the control group. The submicroscopic structures of chromosomes from two groups are analyzed using an array-based comparative genomic hybridization (aCGH). In the case group, 15 specimens show submicroscopic chromosomal abnormalities including 14 micro-deletion/micro-duplication in chromosomes 2, 4, 5, 6, 7, 8, 9, 12, 15, 16, 18, and 22, and 1 uniparental disomy (UPD) in chromosome 19. Moreover, no pathogenic copy number variations are found in the control group. The results between these two groups exhibit significantly statistical difference. Submicroscopic chromosomal imbalances may be one of the main reasons for early abortion.
机译:染色体异常是与流产相关的遗传机制之一。然而,早期堕胎在早期毛细血管染色体失衡的作用仍不清楚。本研究旨在了解亚型染色体失衡是否有助于早期流产。在云发索分析分析(案例组)后,共收集来自早期自发流产患者的78个绒毛膜绒毛标本。与此同时,来自诱导堕胎患者没有明显异常的60个绒毛膜绒毛标本被选择为对照组。使用基于阵列的比较基因组杂交(ACGH)分析来自两组的染色体的亚微观结构。在案例组中,15个样本显示亚微观染色体异常,包括染色体2,4,5,6,7,8,9,12,15,16,18和22和1分钟的微缺失/微重复染色体19中的疾病(UPD)19。此外,对照组没有发现致病拷贝数变异。这两组之间的结果表现出显着的统计差异。亚型染色体不平衡可能是早期堕胎的主要原因之一。

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