title: Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
abstract: The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain ~40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics.
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Zixuan
authors: Z
authors: Gao
authors: Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
authors: Yu
authors: Y
authors: Lu
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Jia
authors: J
authors: Ke
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Tao
authors: T
authors: Li
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Ping
authors: P
authors: Hu
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Yu
authors: Y
authors: Song
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Chiyu
authors: C
authors: Xu
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Jie
authors: J
authors: Wang
authors: Medical Genetics Center, Southwest Hospital, Third Military Medical University, Chong-qing, China.
authors: Jing
authors: J
authors: Cheng
authors: Medical Genetics Center, Southwest Hospital, Third Military Medical University, Chong-qing, China.
authors: Lei
authors: L
authors: Zhang
authors: Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
authors: Hong
authors: H
authors: Duan
authors: Medical Genetics Center, Southwest Hospital, Third Military Medical University, Chong-qing, China.
authors: Huijun
authors: H
authors: Yuan
authors: Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
authors: Furong
authors: F
authors: Ma
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D005820:Genetic Testing; D060005:Genotyping Techniques; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26