• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

关于磨牙-切牙矿化不全(MIH)患儿和非MIH患儿中釉质形成相关基因变异(及相互作用基因)以及人类白细胞抗原等位基因(DQ2和DQ8)分布的数据集。

Dataset on amelogenesis-related genes variants ( and interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH).

作者信息

Hočevar Luka, Kovač Jernej, Podkrajšek Katarina Trebušak, Battelino Saba, Pavlič Alenka

机构信息

Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, Hrvatski trg 6, Ljubljana 1000, Slovenia.

University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, Ljubljana, Slovenia.

出版信息

Data Brief. 2020 Aug 25;32:106224. doi: 10.1016/j.dib.2020.106224. eCollection 2020 Oct.

DOI:10.1016/j.dib.2020.106224
PMID:32944598
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7481823/
Abstract

All children, who were born in 2004 and had undergone surgical treatment for recurrent acute tonsillitis and/or acute otitis media at the ear, nose and throat clinic (ENT) between 2004 and 2010, were called on dental examination and blood sampling. Out of 441 invitees, 113 children and their parents/legal guardians agreed to participate. The following data from this group of subjects are presented: the presence of clinical signs of molar-incisor hypomineralisation (MIH), the distribution of human leukocyte antigen (HLA) alleles DQ2 and DQ8 and eight single nucleotide polymorphisms (SNPs) located in amelogenesis-related genes (rs3796704 in the gene, rs546778141 in the gene, rs2106416 in the gene, rs7660807 and rs35286445 in the gene, rs4870723 in the gene, rs2245803 in the gene, and rs3828054 in the  gene). Data on clinical signs of MIH were collected in accordance with the recommendation and on the proposed MIH clinical data recording sheet [1], and with appropriate preliminary training and calibration. Data on HLA DQ2 and DQ8 haplotypes and on SNPs of amelogenesis-related genes were obtained using DNA isolated from blood samples taken from subjects. The HLA DQ2 and DQ8 alleles were determined using the EliGene® Coeliac RT Kits (90,048-RT; Elisabeth Pharmacon spol. s.r.o., Brno-Židenice, Czech Republic) on a 7500 Fast RT-PCR System (Applied Biosystems, Waltham, MA, USA). The distributions of SNPs in the amelogenesis-related genes were determined using high resolution melting (HRM) using the Type-IT HRM Master Mix (Qiagen), TaqMan genotyping assays (ID: C__25766207_10; Thermo Fisher Scientific, Waltham, MA, USA) with the TaqMan Universal Master Mix II, or Sanger sequencing using sequencing master mix BigDye® Terminator v3.1 (Applied Biosystems) and ABI 3500 Genetic Analyser (Applied Biosystems). L. Hočevar, J. Kovač, K. Trebušak Podkrajšek, S. Battelino, A. Pavlič, 2020. The possible influence of genetic aetiological factors on molar-incisor hypomineralisation, Arch. Oral. Biol. 118, 104848. https://doi.org/10.1016/j.archoralbio.2020.104848.

摘要

所有在2004年出生、于2004年至2010年间在耳鼻喉科诊所(ENT)因复发性急性扁桃体炎和/或急性中耳炎接受过手术治疗的儿童,均被邀请进行牙科检查和血液采样。在441名被邀请者中,113名儿童及其父母/法定监护人同意参与。呈现了该组受试者的以下数据:磨牙-切牙矿化不全(MIH)的临床体征、人类白细胞抗原(HLA)等位基因DQ2和DQ8的分布以及位于釉质形成相关基因中的八个单核苷酸多态性(SNP)(基因中的rs3796704、基因中的rs546778141、基因中的rs2106416、基因中的rs7660807和rs35286445、基因中的rs4870723、基因中的rs2245803以及基因中的rs3828054)。MIH临床体征的数据是根据建议并在拟议的MIH临床数据记录表[1]上收集的,并经过适当的初步培训和校准。HLA DQ2和DQ8单倍型以及釉质形成相关基因SNP的数据是使用从受试者采集的血液样本中分离的DNA获得的。使用EliGene®乳糜泻RT试剂盒(90,048-RT;Elisabeth Pharmacon spol. s.r.o.,布尔诺-日德尼采,捷克共和国)在7500 Fast RT-PCR系统(美国应用生物系统公司,沃尔瑟姆,马萨诸塞州)上测定HLA DQ2和DQ8等位基因。使用Type-IT HRM Master Mix(Qiagen)通过高分辨率熔解(HRM)、使用TaqMan通用PCR预混液II的TaqMan基因分型分析(ID:C__25766207_10;美国赛默飞世尔科技公司,沃尔瑟姆,马萨诸塞州)或使用测序预混液BigDye® Terminator v3.1(应用生物系统公司)和ABI 3500遗传分析仪(应用生物系统公司)进行Sanger测序来测定釉质形成相关基因中SNP的分布。L. Hočevar、J. Kovač、K. Trebušak Podkrajšek、S. Battelino、A. Pavlič,2020年。遗传病因学因素对磨牙-切牙矿化不全的可能影响,《口腔生物学杂志》,第118卷,104848页。https://doi.org/10.1016/j.archoralbio.2020.104848 。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/c86f85ece560/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/81854d0db1f6/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/248595a27b90/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/c86f85ece560/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/81854d0db1f6/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/248595a27b90/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/986a/7481823/c86f85ece560/gr3.jpg

相似文献

1
Dataset on amelogenesis-related genes variants ( and interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH).关于磨牙-切牙矿化不全(MIH)患儿和非MIH患儿中釉质形成相关基因变异(及相互作用基因)以及人类白细胞抗原等位基因(DQ2和DQ8)分布的数据集。
Data Brief. 2020 Aug 25;32:106224. doi: 10.1016/j.dib.2020.106224. eCollection 2020 Oct.
2
The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.遗传病因因素对磨牙-切牙釉质发育不全的可能影响。
Arch Oral Biol. 2020 Oct;118:104848. doi: 10.1016/j.archoralbio.2020.104848. Epub 2020 Aug 7.
3
Genes Regulating Immune Response and Amelogenesis Interact in Increasing the Susceptibility to Molar-Incisor Hypomineralization.调节免疫反应和釉质发生的基因相互作用增加了磨牙-切牙釉质发育不全的易感性。
Caries Res. 2019;53(2):217-227. doi: 10.1159/000491644. Epub 2018 Aug 21.
4
Family-Based Genetic Association for Molar-Incisor Hypomineralization.基于家庭的磨牙-切牙矿化不全基因关联研究
Caries Res. 2016;50(3):310-8. doi: 10.1159/000445726. Epub 2016 May 14.
5
Genes expressed in dental enamel development are associated with molar-incisor hypomineralization.牙釉质发育过程中表达的基因与磨牙-切牙矿化不全有关。
Arch Oral Biol. 2013 Oct;58(10):1434-42. doi: 10.1016/j.archoralbio.2013.05.005. Epub 2013 Jun 19.
6
Hypomineralised second primary molars: prevalence, defect characteristics and possible association with Molar Incisor Hypomineralisation in Indian children.矿化不足的第二乳磨牙:印度儿童中的患病率、缺损特征及与磨牙切牙矿化不足的可能关联
Eur Arch Paediatr Dent. 2015 Dec;16(6):441-7. doi: 10.1007/s40368-015-0190-z. Epub 2015 Jun 20.
7
Association between genetic factors and molar-incisor hypomineralisation or hypomineralised second primary molar: A systematic review.遗传因素与磨牙-切牙釉质发育不全或第二恒磨牙釉质发育不全的相关性:系统评价。
Arch Oral Biol. 2023 Aug;152:105716. doi: 10.1016/j.archoralbio.2023.105716. Epub 2023 May 7.
8
Interactions with the aquaporin 5 gene increase the susceptibility to molar-incisor hypomineralization.与水通道蛋白 5 基因的相互作用增加了患磨牙-切牙矿化不全的易感性。
Arch Oral Biol. 2020 Mar;111:104637. doi: 10.1016/j.archoralbio.2019.104637. Epub 2019 Dec 23.
9
Identification by whole-exome sequencing of new single-nucleotide polymorphisms associated with molar-incisor hypomineralisation among the Lebanese population.通过全外显子组测序鉴定与黎巴嫩人群中磨牙-切牙釉质发育不全相关的新单核苷酸多态性。
Eur Arch Paediatr Dent. 2022 Dec;23(6):919-928. doi: 10.1007/s40368-022-00738-2. Epub 2022 Aug 20.
10
Five-minute Apgar score ≤ 5 and Molar Incisor Hypomineralisation (MIH) - a case control study.5分钟阿氏评分≤5与乳磨牙釉质发育不全(MIH)——一项病例对照研究
BMC Oral Health. 2016 Jul 22;17(1):25. doi: 10.1186/s12903-016-0253-5.

引用本文的文献

1
Frequencies of enamel hypomineralisation in permanent and primary molars in a medieval and early-modern-age population (7th - 17th c.) in Sains-en-Gohelle (Pas de Calais, France).法国加来海峡省桑恩昂戈埃勒中世纪和近代早期(公元7世纪至17世纪)人群中恒牙和乳牙磨牙釉质矿化不全的发生率
Sci Rep. 2025 Feb 17;15(1):5704. doi: 10.1038/s41598-025-87589-1.

本文引用的文献

1
The possible influence of genetic aetiological factors on molar-incisor hypomineralisation.遗传病因因素对磨牙-切牙釉质发育不全的可能影响。
Arch Oral Biol. 2020 Oct;118:104848. doi: 10.1016/j.archoralbio.2020.104848. Epub 2020 Aug 7.
2
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets.STRING v11:具有增强覆盖范围的蛋白质-蛋白质相互作用网络,支持在全基因组实验数据集的功能发现。
Nucleic Acids Res. 2019 Jan 8;47(D1):D607-D613. doi: 10.1093/nar/gky1131.
3
CADD: predicting the deleteriousness of variants throughout the human genome.
CADD:预测整个人类基因组中变异的有害性。
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. doi: 10.1093/nar/gky1016.
4
A practical method for use in epidemiological studies on enamel hypomineralisation.一种用于牙釉质矿化不足流行病学研究的实用方法。
Eur Arch Paediatr Dent. 2015 Jun;16(3):235-46. doi: 10.1007/s40368-015-0178-8. Epub 2015 Apr 28.
5
A general framework for estimating the relative pathogenicity of human genetic variants.一种用于估计人类遗传变异相对致病性的通用框架。
Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2.
6
Genes expressed in dental enamel development are associated with molar-incisor hypomineralization.牙釉质发育过程中表达的基因与磨牙-切牙矿化不全有关。
Arch Oral Biol. 2013 Oct;58(10):1434-42. doi: 10.1016/j.archoralbio.2013.05.005. Epub 2013 Jun 19.
7
ScreenClust: Advanced statistical software for supervised and unsupervised high resolution melting (HRM) analysis.ScreenClust:用于监督和无监督高分辨率熔解(HRM)分析的高级统计软件。
Methods. 2010 Apr;50(4):S10-4. doi: 10.1016/j.ymeth.2010.02.006. Epub 2010 Feb 8.
8
Judgement criteria for molar incisor hypomineralisation (MIH) in epidemiologic studies: a summary of the European meeting on MIH held in Athens, 2003.流行病学研究中磨牙切牙矿化不全(MIH)的判断标准:2003年在雅典举行的欧洲MIH会议总结
Eur J Paediatr Dent. 2003 Sep;4(3):110-3.
9
STRING: a web-server to retrieve and display the repeatedly occurring neighbourhood of a gene.STRING:一个用于检索和显示基因反复出现的相邻区域的网络服务器。
Nucleic Acids Res. 2000 Sep 15;28(18):3442-4. doi: 10.1093/nar/28.18.3442.