Genetic Frequencies Related to Severe or Profound Sensorineural Hearing Loss in Inner Mongolia Autonomous Region

Overview

Journal Genet Mol Biol

Specialty Genetics

Date 2016 Oct 12

PMID 27727359

Citations 6

Authors

Yongzhi Liu

Liying Ao

Haitao Ding

Dongli Zhang

Affiliations

Soon will be listed here.

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.

Citing Articles

Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.

Li Y, Ma H, Wang Q, Liu D, Wang W, Li S BMC Med Genomics. 2024; 17(1):55.

PMID: 38378613 PMC: 10877886. DOI: 10.1186/s12920-024-01829-3.

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).

Danilchenko V, Zytsar M, Maslova E, Orishchenko K, Posukh O Genes (Basel). 2023; 14(4).

PMID: 37107686 PMC: 10137394. DOI: 10.3390/genes14040928.

High Rates of Three Common Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Zytsar M, Bady-Khoo M, Danilchenko V, Maslova E, Barashkov N, Morozov I Genes (Basel). 2020; 11(7).

PMID: 32708339 PMC: 7397271. DOI: 10.3390/genes11070833.

Unique Mutational Spectrum of the Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).

Posukh O, Zytsar M, Bady-Khoo M, Danilchenko V, Maslova E, Barashkov N Genes (Basel). 2019; 10(6).

PMID: 31195736 PMC: 6627114. DOI: 10.3390/genes10060429.

Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.

Erdenechuluun J, Lin Y, Ganbat K, Bataakhuu D, Makhbal Z, Tsai C PLoS One. 2018; 13(12):e0209797.

PMID: 30576380 PMC: 6303056. DOI: 10.1371/journal.pone.0209797.

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