Simultaneous multi-gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing-impairment in Northwest China

Autor: Jian‑Li Ma, Xiao‑Long Yang, Yu‑Fen Guo, Shi‑Hong Duan
Rok vydání: 2017
Předmět:
Male
0301 basic medicine
Cancer Research
Mutation rate
Deafness
Biochemistry
Connexins
0302 clinical medicine
Medicine
Child
Genetics
Mutation Spectra
medicine.diagnostic_test
Articles
GJB2
Connexin 26
Oncology
Sulfate Transporters
Child
Preschool
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Molecular Medicine
Female
Adult
minority patients
China
medicine.medical_specialty
Adolescent
Genotype
Single-nucleotide polymorphism
DNA
Mitochondrial
Polymorphism
Single Nucleotide
Young Adult
03 medical and health sciences
Asian People
Internal medicine
SLC26A4
otorhinolaryngologic diseases
Humans
SNP
nonsyndromic hearing impairment
Molecular Biology
Allele frequency
Alleles
Genetic testing
business.industry
Membrane Transport Proteins
030104 developmental biology
RNA
Ribosomal
mtDNA12SrRNA
Etiology
business
Zdroj: Molecular Medicine Reports
ISSN: 1791-3004
1791-2997
DOI: 10.3892/mmr.2017.7431
Popis: The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI who attended special education schools in northwest China were enrolled in the present study. Single-nucleotide polymorphisms (SNPs) in three common deafness-related genes, gap junction protein β2 (GJB2), solute carrier family 26 member 4 (SLC26A4) and mitochondrially encoded 12S RNA (mtDNA12SrRNA), were detected using a SNPscan technique. GJB2 mutations were detected in 14.89% of Hui patients, 9.37% of Tibetan patients and 11.83% of Tu patients. The most prevalent GJB2 mutation in the Hui and Tu patients was c.235delC. In the Tibetan patients, the c.109G>A SNP exhibited the highest allele frequency. SLC26A4 mutations were detected in 10.64% of Hui patients, 6.25% of Tibetan patients, and 8.6% of Tu patients. The most common SLC26A4 mutation was c.919-2A>Gin the Hui, Tibetan, and Tu patients, and the second most common SLC26A4 mutations in these patients were c.1517T>G, c.1226G>A andc.2168A>G, respectively. The mutation rates ofmtDNA12SrRNA in the Hui, Tibetan, and Tu patients were 1.06, 5.21, and 5.38%, respectively. These findings demonstrate that the mutation spectra of these deafness-related genes are unique amongst these three ethnic groups. This information will be helpful in designing a protocol for genetic testing for deafness and for achieving accurate molecular diagnoses in northwest China.
Databáze: OpenAIRE
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