Hazem Kaheel, Andreas Breß, Mohamed A Hassan, Aftab Ali Shah, Mutaz Amin, Yousuf H Y Bakhit, Marlies Kniper
{"title":"叙利亚非综合征性听力障碍患者GJB2基因(连接蛋白26)c.35delG突变频率","authors":"Hazem Kaheel, Andreas Breß, Mohamed A Hassan, Aftab Ali Shah, Mutaz Amin, Yousuf H Y Bakhit, Marlies Kniper","doi":"10.1155/2017/5836525","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is <i>GJB2</i>. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common <i>GJB2</i> mutations in Syrian patients with profound sensorineural HI.</p><p><strong>Methods: </strong>We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different <i>GJB2</i> mutations.</p><p><strong>Results: </strong>The result revealed that, in <i>GJB2</i> gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%).</p><p><strong>Conclusion: </strong>The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.</p>","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2017 ","pages":"5836525"},"PeriodicalIF":0.0000,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/5836525","citationCount":"6","resultStr":"{\"title\":\"Frequency of c.35delG Mutation in <i>GJB2</i> Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.\",\"authors\":\"Hazem Kaheel, Andreas Breß, Mohamed A Hassan, Aftab Ali Shah, Mutaz Amin, Yousuf H Y Bakhit, Marlies Kniper\",\"doi\":\"10.1155/2017/5836525\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is <i>GJB2</i>. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common <i>GJB2</i> mutations in Syrian patients with profound sensorineural HI.</p><p><strong>Methods: </strong>We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different <i>GJB2</i> mutations.</p><p><strong>Results: </strong>The result revealed that, in <i>GJB2</i> gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%).</p><p><strong>Conclusion: </strong>The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.</p>\",\"PeriodicalId\":37545,\"journal\":{\"name\":\"Genetics Research International\",\"volume\":\"2017 \",\"pages\":\"5836525\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1155/2017/5836525\",\"citationCount\":\"6\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics Research International\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2017/5836525\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2017/12/6 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics Research International","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2017/5836525","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2017/12/6 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.
Background: Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI.
Methods: We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations.
Results: The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%).
Conclusion: The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.
期刊介绍:
Genetics Research International is a peer-reviewed, Open Access journal that publishes original research articles as well as review articles in all areas of genetics and genomics. The journal focuses on articles bearing on heredity, biochemistry, and molecular biology, as well as clinical findings.