具有两个拷贝数变异的大队列受试者的性染色体参与频率。

IF 1.7 4区 生物学 Q4 CELL BIOLOGY
Cytogenetic and Genome Research Pub Date : 2022-01-01 Epub Date: 2023-05-18 DOI:10.1159/000531096
Autumn Vara, Janice L Smith, S Shahrukh Hashmi, Victoria F Wagner, Kathryn Gunther, David F Rodriguez-Buritica
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引用次数: 0

摘要

拷贝数变异(CNVs)在临床环境中是一个常见的发现,并有助于遗传变异和疾病。研究已经将多个CNVs的积累描述为一种疾病修饰机制。虽然已经描述了额外的CNV如何在表型中发挥作用,但性染色体以何种方式和在多大程度上参与双CNV情景尚未完全定义。为了描述CNVs的分布,使用DECIPHER数据库对2,273个具有两个CNVs的去识别个体进行了二次数据分析。根据CNVs的大小和特征,将其指定为较大和次要的CNVs。我们发现X染色体是继发性CNVs中最常见的染色体。进一步分析发现,性染色体上的CNVs与常染色体相比,在中位大小(p = 0.013)、致病性组(p <0.001)和变异分类(p = 0.001)。最后,我们鉴定了大CNVs和次生CNVs的染色体组合,并观察到次生CNVs的数量与大CNVs在同一染色体上。本研究的观察结果提供了性染色体CNV参与各种适应症的额外信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants.

Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation and disease. Studies have described the accumulation of multiple CNVs as a disease-modifying mechanism. While it has been described how additional CNVs may play a role in phenotype, in which ways and to what extent sex chromosomes are involved in dual CNV scenario has not been fully defined. To describe the distribution of CNVs, a secondary data analysis using the DECIPHER database on 2,273 de-identified individuals with two CNVs was performed. CNVs were designated larger and secondary based on size and characteristics. We found that the X chromosome was observed to be the most common chromosome involved in secondary CNVs. Further analysis showed CNVs on the sex chromosome have significant differences compared to autosomes when comparing median size (p = 0.013), pathogenicity groups (p < 0.001), and variant classification (p = 0.001). Lastly, we identified chromosome combinations for larger and secondary CNVs and observed the plurality of secondary CNVs fell in the same chromosome as the larger. The observations of this study provide additional information on sex chromosome CNV involvement in a variety of indications.

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来源期刊
Cytogenetic and Genome Research
Cytogenetic and Genome Research 生物-细胞生物学
CiteScore
3.10
自引率
5.90%
发文量
25
审稿时长
1 months
期刊介绍: During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.
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