E. Gaber, G. A. E. Fath, Mohamed Farouk Mohamed Khalil, G. H. E. Nady
{"title":"埃及常染色体隐性聋患者连接蛋白26 (35delg)突变的筛选及其与智商的关系","authors":"E. Gaber, G. A. E. Fath, Mohamed Farouk Mohamed Khalil, G. H. E. Nady","doi":"10.21608/EJGC.2018.9506","DOIUrl":null,"url":null,"abstract":"Deafness is one of the most common and widespread congenital sensory disorder. Mutation in the connexin 26 (35delG) is considered the most frequent cause of the autosomal recessive nonsyndrome deafness (ARNSD). This study aimed to determine the prevalence of the Cx26 (35delG) mutation in the Egyptian population. To achieve this goal 120 patients were evaluated for this mutation. The Cx26 (35delG) was screened using amplified refractory mutation system analysis (ARMS) analysis. The Cx26 (35delG) mutation was found in the 29.2% and 50% in the patients as homozygous and compound heterozygous, respectively. These results were significantly very high in comparison with the control. The frequency of the mutant allele was 54.2% in this population. These findings revealed the presence of the studied mutation in the Egyptian population.","PeriodicalId":31811,"journal":{"name":"Egyptian Journal of Genetics and Cytology","volume":"46 1","pages":"101-109"},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"SCREENING OF THE CONNEXIN 26 (35DELG) MUTATION IN EGYPTIAN PATIENTS WITH AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS AND ITS RELATION TO THE PATIENTS' IQ\",\"authors\":\"E. Gaber, G. A. E. Fath, Mohamed Farouk Mohamed Khalil, G. H. E. Nady\",\"doi\":\"10.21608/EJGC.2018.9506\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Deafness is one of the most common and widespread congenital sensory disorder. Mutation in the connexin 26 (35delG) is considered the most frequent cause of the autosomal recessive nonsyndrome deafness (ARNSD). This study aimed to determine the prevalence of the Cx26 (35delG) mutation in the Egyptian population. To achieve this goal 120 patients were evaluated for this mutation. The Cx26 (35delG) was screened using amplified refractory mutation system analysis (ARMS) analysis. The Cx26 (35delG) mutation was found in the 29.2% and 50% in the patients as homozygous and compound heterozygous, respectively. These results were significantly very high in comparison with the control. The frequency of the mutant allele was 54.2% in this population. These findings revealed the presence of the studied mutation in the Egyptian population.\",\"PeriodicalId\":31811,\"journal\":{\"name\":\"Egyptian Journal of Genetics and Cytology\",\"volume\":\"46 1\",\"pages\":\"101-109\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Journal of Genetics and Cytology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21608/EJGC.2018.9506\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Journal of Genetics and Cytology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21608/EJGC.2018.9506","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
SCREENING OF THE CONNEXIN 26 (35DELG) MUTATION IN EGYPTIAN PATIENTS WITH AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS AND ITS RELATION TO THE PATIENTS' IQ
Deafness is one of the most common and widespread congenital sensory disorder. Mutation in the connexin 26 (35delG) is considered the most frequent cause of the autosomal recessive nonsyndrome deafness (ARNSD). This study aimed to determine the prevalence of the Cx26 (35delG) mutation in the Egyptian population. To achieve this goal 120 patients were evaluated for this mutation. The Cx26 (35delG) was screened using amplified refractory mutation system analysis (ARMS) analysis. The Cx26 (35delG) mutation was found in the 29.2% and 50% in the patients as homozygous and compound heterozygous, respectively. These results were significantly very high in comparison with the control. The frequency of the mutant allele was 54.2% in this population. These findings revealed the presence of the studied mutation in the Egyptian population.