title: Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.
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.
authors.affiliation: Department of Otolaryngology, Inner Mongolia People's Hospital, Hohhot, China.
authors.forename: Yongzhi
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Otolaryngology, Inner Mongolia People's Hospital, Hohhot, China.
authors.forename: Liying
authors.initials: L
authors.lastname: Ao
authors.affiliation: Department of Laboratory Medicine, Inner Mongolia People's Hospital, Hohhot, China.
authors.forename: Haitao
authors.initials: H
authors.lastname: Ding
authors.affiliation: Department of Otolaryngology, the 4th Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
authors.forename: Dongli
authors.initials: D
authors.lastname: Zhang