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利用纳米孔测序从口腔拭子中检测 DNA 甲基化以研究发育迟缓。

Detection of DNA methylation from buccal swabs using nanopore sequencing to study stunting.

机构信息

PathGen Diagnostik Teknologi, Ir. Soekarno Science and Technology Park, National Research and Innovation Agency Republic of Indonesia, Bogor, Indonesia.

National Research and Innovation Agency (BRIN), Ir. Soekarno Science and Technology Park, Cibinong, Bogor, Indonesia.

出版信息

Epigenetics. 2024 Dec;19(1):2418717. doi: 10.1080/15592294.2024.2418717. Epub 2024 Nov 3.

DOI:10.1080/15592294.2024.2418717
PMID:39491969
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11540103/
Abstract

Stunting is the result of chronic malnutrition due to the lack of micronutrient-based methyl donors required for epigenetic programming during the first 1000 days of life. Methylation studies using bisulfite conversion from blood DNA are invasive and may not be practical for large-scale epidemiological investigation or nutrition intervention programs. Buccal epithelial methylation may reflect early germline methylation. Therefore, buccal cells can serve as convenient sample sources to collect biomarkers associated with the risk of stunting. This study aims to describe the feasibility of nanopore adaptive sampling in detecting DNA methylation from children's buccal DNA. We used adaptive sampling of Oxford Nanopore Technology on barcoded samples to describe differential methylation associated with malnutrition. Overall, the level of 5-methylcytosine (5mC) was lower in stunted children than in normal children. We also found differentially methylated regions at the MIR6724 and RNA45SN1 gene loci on chromosome 21, which was higher in stunted children than in normal children. We described and detected differential DNA methylation in the locus previously not known to be associated with stunting. Interestingly, this locus on chromosome 21 has been implicated in the stunted phenotype of Down syndrome.

摘要

生长迟缓是由于生命最初 1000 天缺乏基于微量营养素的甲基供体而导致的慢性营养不良的结果，这些甲基供体是表观遗传编程所必需的。使用血液 DNA 亚硫酸氢盐转化进行的甲基化研究具有侵入性，对于大规模的流行病学调查或营养干预计划可能不切实际。颊上皮的甲基化可能反映了早期生殖系的甲基化。因此，颊细胞可以作为收集与生长迟缓风险相关的生物标志物的方便样本来源。本研究旨在描述纳米孔自适应采样检测儿童颊部 DNA 甲基化的可行性。我们使用牛津纳米孔技术对带有条形码的样本进行自适应采样，以描述与营养不良相关的差异甲基化。总的来说，生长迟缓儿童的 5-甲基胞嘧啶（5mC）水平低于正常儿童。我们还在第 21 号染色体上的 MIR6724 和 RNA45SN1 基因座发现了差异甲基化区域，生长迟缓儿童的这一区域高于正常儿童。我们描述并检测了以前未知与生长迟缓相关的基因座的差异 DNA 甲基化。有趣的是，21 号染色体上的这个基因座与唐氏综合征的生长迟缓表型有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/25b73d03cd40/KEPI_A_2418717_F0003_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/7ebde3a89233/KEPI_A_2418717_F0001_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/91802cd14c7f/KEPI_A_2418717_F0002_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/25b73d03cd40/KEPI_A_2418717_F0003_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/7ebde3a89233/KEPI_A_2418717_F0001_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/91802cd14c7f/KEPI_A_2418717_F0002_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b672/11540103/25b73d03cd40/KEPI_A_2418717_F0003_OC.jpg

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本文引用的文献

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2
Profiling age and body fluid DNA methylation markers using nanopore adaptive sampling.使用纳米孔自适应采样进行年龄和体液 DNA 甲基化标记物分析。
Forensic Sci Int Genet. 2024 Jul;71:103048. doi: 10.1016/j.fsigen.2024.103048. Epub 2024 Apr 15.
3
Utility of long-read sequencing for All of Us.长读测序在“所有人”研究中的应用。
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4
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Nat Commun. 2024 Jan 2;15(1):1. doi: 10.1038/s41467-023-43650-z.
5
Comparison of high and low stunting reduction groups using IFE-EFE matrix analysis in Central Java Province, Indonesia.印度尼西亚中爪哇省采用IFE-EFE 矩阵分析比较高和低生长迟缓减少组。
Front Public Health. 2023 Nov 17;11:1191473. doi: 10.3389/fpubh.2023.1191473. eCollection 2023.
6
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