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Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population 期刊论文

编号：

199D1D9ADE69C82078CCEB240EFE07FC
作者：

Qiu, Shuang#^[1,2]Qiu, Yingjia^[3];Li, Yong^[1];Zhu, Xiaojuan^[4];Liu, Yunkai^[5,6,7];Qiao, Yichun^[1];Cheng, Yi(程熠)*^[5,6,7]Liu, Yawen(刘雅文)*^[1]
语种：

英文
期刊：

BMC PSYCHIATRY ISSN：1471-244X 2023 年 23 卷 1 期 ; FEB 7
收录：
关键词：

Autism spectrum disorder Copy number variations MicroRNAs Array-based comparative genomic hybridization
摘要：

BackgroundAutism spectrum disorder (ASD) is a common neurodevelopmental disorder, with an increasing prevalence worldwide. Copy number variation (CNV), as one of genetic factors, is involved in ASD etiology. However, there exist substantial differences in terms of location and frequency of some CNVs in the general Asian population. Whole-genome studies of CNVs in Northeast Han Chinese samples are still lacking, necessitating our ongoing work to investigate the characteristics of CNVs in a Northeast Han Chinese population with clinically diagnosed ASD. MethodsWe performed a genome-wide CNVs screening in Northeast Han Chinese individuals with ASD using array-based comparative genomic hybridization. ResultsWe found that 22 kinds of CNVs (6 deletions and 16 duplications) were potentially pathogenic. These CNVs were distributed in chromosome 1p36.33, 1p36.31, 1q42.13, 2p23.1-p22.3, 5p15.33, 5p15.33-p15.2, 7p22.3, 7p22.3-p22.2, 7q22.1-q22.2, 10q23.2-q23.31, 10q26.2-q26.3, 11p15.5, 11q25, 12p12.1-p11.23, 14q11.2, 15q13.3, 16p13.3, 16q21, 22q13.31-q13.33, and Xq12-q13.1. Additionally, we found 20 potential pathogenic genes of ASD in our population, including eight protein coding genes (six duplications [DRD4, HRAS, OPHN1, SHANK3, SLC6A3, and TSC2] and two deletions [CHRNA7 and PTEN]) and 12 microRNAs-coding genes (ten duplications [MIR202, MIR210, MIR3178, MIR339, MIR4516, MIR4717, MIR483, MIR675, MIR6821, and MIR940] and two deletions [MIR107 and MIR558]). ConclusionWe identified CNVs and genes implicated in ASD risks, conferring perception to further reveal ASD etiology.
推荐引用方式
GB/T 7714：

Qiu Shuang,Qiu Yingjia,Li Yong, et al. Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population [J].BMC PSYCHIATRY,2023,23(1).
APA：

Qiu Shuang,Qiu Yingjia,Li Yong,Zhu Xiaojuan,&Liu Yawen.(2023).Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population .BMC PSYCHIATRY,23(1).
MLA：

Qiu Shuang, et al. "Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population" .BMC PSYCHIATRY 23,1(2023).
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