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Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region
Provedor de dados: 74
Autores: Liu,Yongzhi; Ao,Liying; Ding,Haitao; Zhang,Dongli.
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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Sensorineural hearing loss; GJB2; SLC26A4; GJB3; Mitochondrial DNA; Inner Mongolia.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400567