Molecular similarity of multifactorial and Mendelian diseases

Брагина, Е.Ю., Назаренко, М.С., Пузырёв, В.П.
{"title":"Molecular similarity of multifactorial and Mendelian diseases","authors":"Брагина, Е.Ю., Назаренко, М.С., Пузырёв, В.П.","doi":"10.25557/2073-7998.2022.07.30-32","DOIUrl":null,"url":null,"abstract":"В работе изучена генетическая связь 22 многофакторных и 6 менделевских болезней, основываясь на данных, экстрагированных из курируемой базы DisGenNet. Для анализа рассчитан коэффициент генетической «общности» между болезнями, а также использованы методы кластеризации и приоритизации. В результате установлена выраженная общая наследственная компонента многофакторных болезней разных патогенетических групп. Неполные знания о вкладе генов-модификаторов в развитие менделевских заболеваний, как и многофакторных болезней, существенно лимитируют оценку их молекулярного сходства.\n The genetic relationship of 22 multifactorial and 6 Mendelian diseases based on data extracted from the curated DisGenNet database were studied. The coefficient of genetic «commonality» between diseases was calculated and as well as methods of clustering and prioritization were used. As a result, a pronounced common hereditary component of multifactorial diseases of various pathogenetic groups was established. The assessment of molecular similarity between Mendelian and multifactorial diseases is significantly limits due to incomplete knowledge about the contribution of genes.","PeriodicalId":443256,"journal":{"name":"Nauchno-prakticheskii zhurnal «Medicinskaia genetika","volume":"34 1 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nauchno-prakticheskii zhurnal «Medicinskaia genetika","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25557/2073-7998.2022.07.30-32","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

В работе изучена генетическая связь 22 многофакторных и 6 менделевских болезней, основываясь на данных, экстрагированных из курируемой базы DisGenNet. Для анализа рассчитан коэффициент генетической «общности» между болезнями, а также использованы методы кластеризации и приоритизации. В результате установлена выраженная общая наследственная компонента многофакторных болезней разных патогенетических групп. Неполные знания о вкладе генов-модификаторов в развитие менделевских заболеваний, как и многофакторных болезней, существенно лимитируют оценку их молекулярного сходства. The genetic relationship of 22 multifactorial and 6 Mendelian diseases based on data extracted from the curated DisGenNet database were studied. The coefficient of genetic «commonality» between diseases was calculated and as well as methods of clustering and prioritization were used. As a result, a pronounced common hereditary component of multifactorial diseases of various pathogenetic groups was established. The assessment of molecular similarity between Mendelian and multifactorial diseases is significantly limits due to incomplete knowledge about the contribution of genes.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
多因子和孟德尔疾病的分子相似性
根据从DisGenNet控制数据库中提取的数据,研究了22种多因子和6种门德尔松疾病的遗传联系。它计算了疾病之间的遗传“共性”系数,并使用了集群和优化方法。结果是确定了不同病原体多相疾病的共同遗传成分。不完全了解修改基因对门捷尔疾病的影响,就像多方面疾病一样,大大限制了它们的分子相似性。22个多工厂基因相关性和6个孟德尔离散数据从工作室扭曲的分裂数据库。基因“共同”的分裂被称为“共同”,并被称为“共同”。作为一个result,作为一个早期社区遗产公司,多工厂病原体发育障碍是一个耻辱。《莫莱莱的简单技能》和《多工厂的分歧》是《基因的融合》的签名。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Study of a rare variant of the CFTR c.1329_1350del gene in a homozygous state in a child with cystic fibrosis using functional tests Study of the influence of androgen receptor gene CAG polymorphism and the parental origin of the additional X chromosome on clinical and laboratory parameters in adolescents with Klinefelter syndrome Experience with exon 45 skipping therapy in patients with Duchenne muscular dystrophy Association of H19 polymorphism with breast cancer risk: a meta-analysis Adaptive reactions of human embryo lung fibroblasts (HELF) to a fullerene derivative modified with 3-benzothienylalanine residues
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1