串联重复扩展:好的,坏的和隐藏的

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI:10.1515/medgen-2021-2097
Christel Depienne
{"title":"串联重复扩展:好的,坏的和隐藏的","authors":"Christel Depienne","doi":"10.1515/medgen-2021-2097","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"33 1","pages":"291-292"},"PeriodicalIF":0.8000,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006271/pdf/","citationCount":"0","resultStr":"{\"title\":\"Tandem repeat expansions: the good, the bad and the hidden.\",\"authors\":\"Christel Depienne\",\"doi\":\"10.1515/medgen-2021-2097\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":48632,\"journal\":{\"name\":\"Medizinische Genetik\",\"volume\":\"33 1\",\"pages\":\"291-292\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2022-01-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006271/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medizinische Genetik\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1515/medgen-2021-2097\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/12/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2021-2097","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/12/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

人类基因组包含超过一百万个串联重复序列[1,2]。根据重复基序的大小,这些高度不稳定和多态的变异在历史上被分为三组。微卫星(或短串联重复序列,STR)对应于典型的2-6至9个核苷酸的重复,是基因非编码区中最常见的重复。微小卫星(10–99 bp重复序列)是一类异质重复元件,也存在于基因的特定部分,但更为罕见,而卫星(≥100 bp重复)仅限于基因缺失区,主要构成异染色质和着丝粒。微卫星和小卫星之间的区别是模糊的,它们共同形成了可变数量的串联重复序列(VNTR)。串联重复序列主要分布在基因组的非编码区,尽管在蛋白质编码基因的一个子集中也可以发现三联体的重复。这
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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
Tandem repeat expansions: the good, the bad and the hidden.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
期刊最新文献
Ausschreibung Humangenetik-Promotionspreis 2024 Liquid biopsy-based early tumor and minimal residual disease detection: New perspectives for cancer predisposition syndromes Akademie Humangenetik The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders Syndromtag 2023 in Aachen vom 22.–23. September
×
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