基因诊断的革命:遗传病检测的创新技术

IF 1 Q4 GENETICS & HEREDITY
Shradha Devi Dwivedi, Sachin Dev Yadav, Divya Sahu, Deependra Singh, Manju Rawat Singh
{"title":"基因诊断的革命:遗传病检测的创新技术","authors":"Shradha Devi Dwivedi,&nbsp;Sachin Dev Yadav,&nbsp;Divya Sahu,&nbsp;Deependra Singh,&nbsp;Manju Rawat Singh","doi":"10.1016/j.genrep.2024.101963","DOIUrl":null,"url":null,"abstract":"<div><p>Genetic inheritance refers to the process by which traits and characteristics are passed from one generation to the next through the transmission of genetic information. This information is stored in the form of DNA (deoxyribonucleic acid), which is organized into structures called genes. Genetic hereditary disorders can be broadly classified into four categories on the basis of mode of inheritance and location of genes or chromosomes, they are: x-linked dominant, x-linked recessive, autosomal dominant and autosomal recessive. A specific diagnostic method is necessary for the diagnosis of inherited disorders. For instance, ARMPCR (amplification refractory mutation system polymerase chain reaction) is used to identify sickle cell anaemia, Breast cancer by crisper technology, and HIV (human immunodeficiency virus) can be detected by sandwich ELISA (enzyme linked immunosorbent assay) test. Mutation on FMR1 alleles in Fragile-X syndrome can be determined by TP-PCR (Triplet Repeat Primed-Polymerase Chain Reaction). Alteration on FBN1 gene in Marfan syndrome can be identified by a FISH (fluorescence in situ hybridization) test. All these tests are highly specific in nature, which depend upon genomic sequences, temperature, blood count and many more. To get a deeper comprehension of hereditary problems, we have expanded on a numerous methods and diagnostic criteria in this study. This study discusses many techniques for quickly and precisely identifying genetically inherited disorders.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection\",\"authors\":\"Shradha Devi Dwivedi,&nbsp;Sachin Dev Yadav,&nbsp;Divya Sahu,&nbsp;Deependra Singh,&nbsp;Manju Rawat Singh\",\"doi\":\"10.1016/j.genrep.2024.101963\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Genetic inheritance refers to the process by which traits and characteristics are passed from one generation to the next through the transmission of genetic information. This information is stored in the form of DNA (deoxyribonucleic acid), which is organized into structures called genes. Genetic hereditary disorders can be broadly classified into four categories on the basis of mode of inheritance and location of genes or chromosomes, they are: x-linked dominant, x-linked recessive, autosomal dominant and autosomal recessive. A specific diagnostic method is necessary for the diagnosis of inherited disorders. For instance, ARMPCR (amplification refractory mutation system polymerase chain reaction) is used to identify sickle cell anaemia, Breast cancer by crisper technology, and HIV (human immunodeficiency virus) can be detected by sandwich ELISA (enzyme linked immunosorbent assay) test. Mutation on FMR1 alleles in Fragile-X syndrome can be determined by TP-PCR (Triplet Repeat Primed-Polymerase Chain Reaction). Alteration on FBN1 gene in Marfan syndrome can be identified by a FISH (fluorescence in situ hybridization) test. All these tests are highly specific in nature, which depend upon genomic sequences, temperature, blood count and many more. To get a deeper comprehension of hereditary problems, we have expanded on a numerous methods and diagnostic criteria in this study. This study discusses many techniques for quickly and precisely identifying genetically inherited disorders.</p></div>\",\"PeriodicalId\":12673,\"journal\":{\"name\":\"Gene Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-06-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2452014424000864\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2452014424000864","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

遗传指的是性状和特征通过遗传信息的传递代代相传的过程。这些信息以 DNA(脱氧核糖核酸)的形式储存,被组织成称为基因的结构。根据遗传方式和基因或染色体的位置,遗传性疾病大致可分为四类,它们是X连锁显性遗传病、X连锁隐性遗传病、常染色体显性遗传病和常染色体隐性遗传病。遗传性疾病的诊断需要特定的诊断方法。例如,ARMPCR(扩增难治性突变系统聚合酶链反应)可用于鉴别镰状细胞性贫血,乳腺癌可通过crisper技术检测,HIV(人类免疫缺陷病毒)可通过夹心ELISA(酶联免疫吸附试验)检测。通过 TP-PCR(三重重复引物聚合酶链反应)可确定脆性-X 综合征中 FMR1 等位基因的突变。马凡综合征的 FBN1 基因变异可通过 FISH(荧光原位杂交)检测确定。所有这些检测都具有高度特异性,取决于基因组序列、体温、血细胞计数等因素。为了更深入地了解遗传性问题,我们在本研究中扩展了许多方法和诊断标准。本研究讨论了许多快速、准确识别遗传性疾病的技术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection

Genetic inheritance refers to the process by which traits and characteristics are passed from one generation to the next through the transmission of genetic information. This information is stored in the form of DNA (deoxyribonucleic acid), which is organized into structures called genes. Genetic hereditary disorders can be broadly classified into four categories on the basis of mode of inheritance and location of genes or chromosomes, they are: x-linked dominant, x-linked recessive, autosomal dominant and autosomal recessive. A specific diagnostic method is necessary for the diagnosis of inherited disorders. For instance, ARMPCR (amplification refractory mutation system polymerase chain reaction) is used to identify sickle cell anaemia, Breast cancer by crisper technology, and HIV (human immunodeficiency virus) can be detected by sandwich ELISA (enzyme linked immunosorbent assay) test. Mutation on FMR1 alleles in Fragile-X syndrome can be determined by TP-PCR (Triplet Repeat Primed-Polymerase Chain Reaction). Alteration on FBN1 gene in Marfan syndrome can be identified by a FISH (fluorescence in situ hybridization) test. All these tests are highly specific in nature, which depend upon genomic sequences, temperature, blood count and many more. To get a deeper comprehension of hereditary problems, we have expanded on a numerous methods and diagnostic criteria in this study. This study discusses many techniques for quickly and precisely identifying genetically inherited disorders.

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
Gene Reports
Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍: Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.
×
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
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
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 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信