| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000401308 |
| ISSN: | 1415-4757 |
| Autors: | Liu, Yongzhi1 Ao, Liying1 Ding, Haitao2 Zhang, Dongli3 |
| Institucions: | 1Inner Mongolia People's Hospital, Department of Otolaryngology, China. 2Hohhot, China. 3the Hohhot, China, Hohhot. China 2Inner Mongolia People's Hospital, Department of Laboratory Medicine, Hohhot. China 3Inner Mongolia Medical University, 4th Affiliated Hospital, Hohhot. China |
| Any: | 2016 |
| Període: | Dic |
| Volum: | 39 |
| Número: | 4 |
| Paginació: | 567-572 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Experimental, aplicado |
| Resumen en inglés | The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients. Pathogenic mutations were detected in 168 patients: 114 were homozygotes and 54 were compound heterozygotes. The 114 patients were carriers of only one mutated allele. The frequency of GJB2 variants in Han Chinese (21.0%) was higher than that in Mongolians (16.7%), but not significantly different. On the other hand, the frequency of SLC26A4 variants in Han Chinese (14.8%) was lower than that in Mongolians (19.4%), but also not significantly different. The frequency of patients with pathogenic mutations was different in Ulanqab (21.4%), Xilingol (40.0%), Chifeng (40.0%), Hulunbeier (30.0%), Hohhot (26.3%), and in Baotou (0%). In conclusion, the frequency of mutated alleles in deafness-related genes did not differ between Han Chinese and Mongolians. However, differences in the distribution of common deafness-related mutations were found among the investigated areas of Inner Mongolia |
| Disciplines | Medicina |
| Paraules clau: | Genética, Otología, Sordera, Mutaciones, Frecuencia génica |
| Keyword: | Medicine, Genetics, Otology, Deafness, Mutations, Gene frequency |
| Text complet: | Texto completo (Ver HTML) |
