SCREENING OF THE CONNEXIN 26 (35DELG) MUTATION IN EGYPTIAN PATIENTS WITH AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS AND ITS RELATION TO THE PATIENTS' IQ
| Autor: | Ghada H. El Nady, G. Abo El Fath, Elham Gaber, Mohamed Farouk Mohamed Khalil |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Genetics
education.field_of_study Mutant allele Population Connexin Biology medicine.disease Compound heterozygosity 03 medical and health sciences 0302 clinical medicine 35delg mutation 030220 oncology & carcinogenesis Mutation (genetic algorithm) otorhinolaryngologic diseases medicine Nonsyndromic deafness 030223 otorhinolaryngology education |
| Zdroj: | Egyptian Journal of Genetics and Cytology. 46:101-109 |
| ISSN: | 0046-161X |
| DOI: | 10.21608/ejgc.2018.9506 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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