Data/hora: 11/06/2024 09:01:52

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region	
Autores: 	Liu,Yongzhi; Ao,Liying; Ding,Haitao; Zhang,Dongli.	
Data: 	2016-12-01	
Ano: 	2016	
Palavras-chave: 	Sensorineural hearing loss; GJB2; SLC26A4; GJB3; Mitochondrial DNA; Inner Mongolia.	
Resumo: 	Abstract 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.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400567	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2015-0218	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.39 n.4 2016	
Fonte: 	info:eu-repo/semantics/openAccess