Qing-Qing Jiang, Juan-Juan Zhu, Shu-Ling Fan, Ya-Ping Hou, Xie-Ying Hu, Jie Shi, Lei Wu, Ying Luo
{"title":"在中国基层医院建立并应用反向点印迹法检测 13 种听力损失基因突变。","authors":"Qing-Qing Jiang, Juan-Juan Zhu, Shu-Ling Fan, Ya-Ping Hou, Xie-Ying Hu, Jie Shi, Lei Wu, Ying Luo","doi":"10.2478/abm-2024-0003","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hearing loss is a common sensorineural dysfunction with a high incidence in China. Although genetic factors are important causes of hearing loss, hearing-related gene detection has not been widely adopted in China.</p><p><strong>Objective: </strong>Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.</p><p><strong>Methods: </strong>A reverse dot blot assay combined with a flow-through hybridization technique was developed for the simultaneous detection of 13 hotspot mutations of 4 hearing loss-related genes including <i>GJB2, GJB3, SLC26A4,</i> and the mitochondrial gene <i>MT-RNR1</i>. This method involved PCR amplification systems and a hybridization platform.</p><p><strong>Results: </strong>The technique can detect 13 hotspot mutations of 4 hearing loss-related genes. And a total of 213 blood samples were used to evaluate the availability of this method.</p><p><strong>Discussion: </strong>Our reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify hotspot mutations of 4 hearing loss-related genes in a Chinese population.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953844/pdf/","citationCount":"0","resultStr":"{\"title\":\"Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.\",\"authors\":\"Qing-Qing Jiang, Juan-Juan Zhu, Shu-Ling Fan, Ya-Ping Hou, Xie-Ying Hu, Jie Shi, Lei Wu, Ying Luo\",\"doi\":\"10.2478/abm-2024-0003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hearing loss is a common sensorineural dysfunction with a high incidence in China. Although genetic factors are important causes of hearing loss, hearing-related gene detection has not been widely adopted in China.</p><p><strong>Objective: </strong>Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.</p><p><strong>Methods: </strong>A reverse dot blot assay combined with a flow-through hybridization technique was developed for the simultaneous detection of 13 hotspot mutations of 4 hearing loss-related genes including <i>GJB2, GJB3, SLC26A4,</i> and the mitochondrial gene <i>MT-RNR1</i>. This method involved PCR amplification systems and a hybridization platform.</p><p><strong>Results: </strong>The technique can detect 13 hotspot mutations of 4 hearing loss-related genes. And a total of 213 blood samples were used to evaluate the availability of this method.</p><p><strong>Discussion: </strong>Our reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify hotspot mutations of 4 hearing loss-related genes in a Chinese population.</p>\",\"PeriodicalId\":8501,\"journal\":{\"name\":\"Asian Biomedicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2024-03-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10953844/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Asian Biomedicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2478/abm-2024-0003\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asian Biomedicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/abm-2024-0003","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.
Background: Hearing loss is a common sensorineural dysfunction with a high incidence in China. Although genetic factors are important causes of hearing loss, hearing-related gene detection has not been widely adopted in China.
Objective: Establishing a rapid and efficient method to simultaneously detect hotspot hearing loss gene mutations.
Methods: A reverse dot blot assay combined with a flow-through hybridization technique was developed for the simultaneous detection of 13 hotspot mutations of 4 hearing loss-related genes including GJB2, GJB3, SLC26A4, and the mitochondrial gene MT-RNR1. This method involved PCR amplification systems and a hybridization platform.
Results: The technique can detect 13 hotspot mutations of 4 hearing loss-related genes. And a total of 213 blood samples were used to evaluate the availability of this method.
Discussion: Our reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify hotspot mutations of 4 hearing loss-related genes in a Chinese population.
期刊介绍：
Asian Biomedicine: Research, Reviews and News (ISSN 1905-7415 print; 1875-855X online) is published in one volume (of 6 bimonthly issues) a year since 2007. [...]Asian Biomedicine is an international, general medical and biomedical journal that aims to publish original peer-reviewed contributions dealing with various topics in the biomedical and health sciences from basic experimental to clinical aspects. The work and authorship must be strongly affiliated with a country in Asia, or with specific importance and relevance to the Asian region. The Journal will publish reviews, original experimental studies, observational studies, technical and clinical (case) reports, practice guidelines, historical perspectives of Asian biomedicine, clinicopathological conferences, and commentaries
Asian biomedicine is intended for a broad and international audience, primarily those in the health professions including researchers, physician practitioners, basic medical scientists, dentists, educators, administrators, those in the assistive professions, such as nurses, and the many types of allied health professionals in research and health care delivery systems including those in training.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
