Suppr超能文献

人类 8 号染色体短臂上的拷贝数变异的基因组特征。

Genomic profile of copy number variants on the short arm of human chromosome 8.

机构信息

Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.

出版信息

Eur J Hum Genet. 2010 Oct;18(10):1114-20. doi: 10.1038/ejhg.2010.66. Epub 2010 May 12.

Abstract

We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CNVs) on the short arm of chromosome 8 (8p), representing approximately 1% of the patients analyzed. Two patients with 8p terminal deletion associated with interstitial inverted duplication (inv dup del(8p)) had different mechanisms leading to the formation of a dicentric intermediate during meiosis. Three probands carried an identical ∼5.0 Mb interstitial duplication of chromosome 8p23.1. Four possible hotspots within 8p were observed at nucleotide coordinates of ∼10.45, 24.32-24.82, 32.19-32.77, and 38.94-39.72 Mb involving the formation of recurrent genomic rearrangements. Other CNVs with deletion- or duplication-specific start or stop coordinates on the 8p provide useful information for exploring the basic mechanisms of complex structural rearrangements in the human genome.

摘要

我们通过高分辨率基于微阵列的比较基因组杂交技术对 966 名患有各种发育障碍的儿科患者进行了评估,发现 10 名患者 8 号染色体短臂(8p)上存在致病性拷贝数变异(CNV),占分析患者的约 1%。两名 8p 末端缺失伴中间倒位重复(inv dup del(8p))的患者存在不同的机制,导致减数分裂过程中形成双中心中间体。三个先证者携带 8p23.1 区相同的约 5.0 Mb 片段的重复。在核苷酸坐标约 10.45、24.32-24.82、32.19-32.77 和 38.94-39.72 Mb 处观察到 8p 内四个可能的热点,涉及反复基因组重排的形成。8p 上具有缺失或重复特异性起始或终止坐标的其他 CNV 为探索人类基因组中复杂结构重排的基本机制提供了有用信息。

相似文献

1
Genomic profile of copy number variants on the short arm of human chromosome 8.
Eur J Hum Genet. 2010 Oct;18(10):1114-20. doi: 10.1038/ejhg.2010.66. Epub 2010 May 12.
5
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
Am J Hum Genet. 2001 Apr;68(4):874-83. doi: 10.1086/319506. Epub 2001 Feb 26.
6
Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).
Am J Med Genet A. 2010 Nov;152A(11):2827-31. doi: 10.1002/ajmg.a.33669.
10
Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman.
Mol Genet Genomic Med. 2019 Sep;7(9):e868. doi: 10.1002/mgg3.868. Epub 2019 Jul 17.

引用本文的文献

2
Characterization of Expression-Based Gene Clusters Gives Insights into Variation in Patient Response to Cancer Therapies.
Cancer Inform. 2024 Sep 4;23:11769351241271560. doi: 10.1177/11769351241271560. eCollection 2024.
3
Characterization of speech and language phenotype in the 8p23.1 syndrome.
Eur Child Adolesc Psychiatry. 2024 Oct;33(10):3671-3678. doi: 10.1007/s00787-024-02448-0. Epub 2024 Apr 26.
4
An asymptomatic male individual carrying a 5.72 Mb deletion in 8p23.2‑p23.3: A case report.
Exp Ther Med. 2024 Apr 3;27(6):241. doi: 10.3892/etm.2024.12529. eCollection 2024 Jun.
5
Fusion Cell Markers in Circulating Tumor Cells from Patients with High-Grade Ovarian Serous Carcinoma.
Int J Mol Sci. 2022 Nov 24;23(23):14687. doi: 10.3390/ijms232314687.
6
Mechanisms of structural chromosomal rearrangement formation.
Mol Cytogenet. 2022 Jun 14;15(1):23. doi: 10.1186/s13039-022-00600-6.
8
Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.
BMC Med Genomics. 2021 Mar 23;14(1):88. doi: 10.1186/s12920-021-00940-z.
9
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.
Clin Case Rep. 2020 Nov 12;9(1):314-321. doi: 10.1002/ccr3.3523. eCollection 2021 Jan.
10
8p 11 Microduplication Is Associated with Neonatal Stridor.
Mol Syndromol. 2019 Jan;9(6):324-327. doi: 10.1159/000494796. Epub 2018 Nov 20.

本文引用的文献

3
Inverted duplications deletions: underdiagnosed rearrangements??
Clin Genet. 2009 Jun;75(6):505-13. doi: 10.1111/j.1399-0004.2009.01187.x.
6
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.
J Med Genet. 2009 Oct;46(10):694-702. doi: 10.1136/jmg.2008.065052. Epub 2009 Mar 16.
7
A microhomology-mediated break-induced replication model for the origin of human copy number variation.
PLoS Genet. 2009 Jan;5(1):e1000327. doi: 10.1371/journal.pgen.1000327. Epub 2009 Jan 30.
8
Unusual 8p inverted duplication deletion with telomere capture from 8q.
Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17.
9
Mechanisms for human genomic rearrangements.
Pathogenetics. 2008 Nov 3;1(1):4. doi: 10.1186/1755-8417-1-4.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验