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Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China Cover

Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China

Open Access
|Mar 2024

References

  1. Fu Y, Zha S, Lü N, Xu H, Zhang X, Shi W, Zha J. Carrier frequencies of hearing loss variants in newborns of China: a meta-analysis. J Evid Based Med. 2019; 12:40–50.
  2. [2] Wang D, Zhang H, Ma H, Zhang L, Yang L, Xu L. Hearing threshold levels and hearing loss among people in Zhejiang, China: a population-based cross-sectional study. BMJ Open. 2019; 9:e027152. doi: 10.1136/bmjopen-2018-027152
    WangD ZhangH MaH ZhangL YangL XuL Hearing threshold levels and hearing loss among people in Zhejiang, China: a population-based cross-sectional study BMJ Open 2019 9 e027152 10.1136/bmjopen-2018-027152
  3. [3] Zhou Y, Tariq M, He S, Abdullah U, Zhang J, Baig SM. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. BMC Med Genet. 2020; 21:151. doi: 10.1186/s12881-020-01087-x
    ZhouY TariqM HeS AbdullahU ZhangJ BaigSM Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families BMC Med Genet 2020 21 151 10.1186/s12881-020-01087-x
  4. Asian Biomed (Res Rev News) 2024; 18(1):11–17
  5. [4] Li S, Peng Q, Liao S, Li W, Ma Q, Lu X. A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population. PLoS One. 2017; 12:e0177196. doi: 10.1371/journal.pone.0177196
    LiS PengQ LiaoS LiW MaQ LuX A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population PLoS One 2017 12 e0177196 10.1371/journal.pone.0177196
  6. [5] Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, et al. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. Int J Pediatr Otorhinolaryngol. 2020; 136:110143. doi: 10.1016/j.ijporl.2020.110143
    LiuXW WangJC WangSY LiSJ ZhuYM DingWJ The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China Int J Pediatr Otorhinolaryngol 2020 136 110143 10.1016/j.ijporl.2020.110143
  7. Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X. Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population. Genet Mol Res. 2017; 16.
  8. Jiang H, Shi X, Qiu S, Dong Y, Qiao Y, Wei D. A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family. J Otol. 2016; 11:134–7.
  9. [8] Wei Q, Wang S, Yao J, Lu Y, Chen Z, Xing G, Cao X. Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. J Transl Med. 2013; 11:163. doi: 10.1186/1479-5876-11-163
    WeiQ WangS YaoJ LuY ChenZ XingG CaoX Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China J Transl Med 2013 11 163 10.1186/1479-5876-11-163
  10. [9] Zheng J, Ying Z, Cai Z, Sun D, He Z, Gao Y, et al. GJB2 Mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss. PLoS One. 2015; 10:e0128691. doi: 10.1371/journal.pone.0128691
    ZhengJ YingZ CaiZ SunD HeZ GaoY GJB2 Mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss PLoS One 2015 10 e0128691 10.1371/journal.pone.0128691
  11. [10] Guo C, Huang SS, Yuan YY, Zhou Y, Wang N, Kang DY, et al. Hearing phenotypes of patients with hearing loss homozygous for the GJB2 c.235delc mutation. Neural Plast. 2020; 2020:8841522. doi: 10.1155/2020/8841522
    GuoC HuangSS YuanYY ZhouY WangN KangDY Hearing phenotypes of patients with hearing loss homozygous for the GJB2 c.235delc mutation Neural Plast 2020 2020 8841522 10.1155/2020/8841522
  12. [11] Wu CC, Tsai CY, Lin YH, Chen PY, Lin PH, Cheng YF, et al. Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population. Genes (Basel). 2019; 10:772. doi: 10.3390/genes10100772
    WuCC TsaiCY LinYH ChenPY LinPH ChengYF Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population Genes (Basel) 2019 10 772 10.3390/genes10100772
  13. Dai P, Yuan YY, Kang DY, Li Q, Zhu QW, Zhang X, et al. [Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China]. Zhonghua Yi Xue Za Zhi. 2007; 87:2521–5. [in Chinese]
  14. Guo YF, Liu XW, Guan J, Han MK, Wang DY, Zhao YL, et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008; 128:297–303.
  15. Ibekwe TS, Bhimrao SK, Westerberg BD, Kozak FK. A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: is there a role for screening neonates requiring aminoglycosides? Afr J Paediatr Surg. 2015; 12:105–13.
  16. Zheng J, Bai X, Xiao Y, Ji Y, Meng F, Aishanjiang M, et al. Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss. Mitochondrion. 2020; 52:163–72.
  17. Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998; 20:370–3.
  18. Huang S, Huang B, Wang G, Kang DY, Zhang X, Meng X, Dai P. The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population. Int J Pediatr Otorhinolaryngol. 2017; 102:67–70.
  19. [18] Korver AMH, Smith RJH, Van Camp GV, Schleiss MR, Bitner-Glindzicz MAK, Lustig LR, et al. Congenital hearing loss. Nat Rev Dis Primers. 2017; 3:16094. doi: 10.1038/nrdp.2016.94.
    KorverAMH SmithRJH Van CampGV SchleissMR Bitner-GlindziczMAK LustigLR Congenital hearing loss Nat Rev Dis Primers 2017 3 16094 10.1038/nrdp.2016.94
  20. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE. Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet. 1997; 34:169–72.
  21. Huang S, Xu Y, Liu X, Zhou M, Wu X, Jia Y. Molecular newborn screening of four genetic diseases in Guizhou Province of South China. Gene. 2016; 591:119–22.
  22. Lin M, Zhu JJ, Wang Q, Xie LX, Lu M, Wang JL, et al. Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese. Blood Cells Mol Dis. 2012; 48:86–90.
  23. Liu SS, Leung RCY, Chan KKL, Cheung ANY, Ngan HYS. Evaluation of a newly developed GenoArray human papillomavirus (HPV) genotyping assay and comparison with the Roche Linear Array HPV genotyping assay. J Clin Microbiol. 2010; 48:758–64.
  24. Lin M, Wang Q, Zheng L, Huang Y, Lin F, Lin CP, Yang LY. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China. Clin Genet. 2012; 81:165–71.
  25. Yang T, Guo L, Wang L, Yu X. Diagnosis, intervention, and prevention of genetic hearing loss. Adv Exp Med Biol. 2019; 1130:73–92.
  26. [25] Wang C, Wang S, Chen H, Lu D. Establishment of a gene detection system for hotspot mutations of hearing loss. Biomed Res Int. 2018; 2018:6828306. doi: 10.1155/2018/6828306
    WangC WangS ChenH LuD Establishment of a gene detection system for hotspot mutations of hearing loss Biomed Res Int 2018 2018 6828306 10.1155/2018/6828306
  27. Han GY, Xu Z, Li QS, Shen HY, Zhang W, Liang J. Detection of hereditary hearing loss gene by DNA microarray. Eur Rev Med Pharmacol Sci. 2017; 21:3538–42.
  28. Han B, Zong L, Li Q, Zhang Z, Wang D, Lan L, et al. Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit. Int J Pediatr Otorhinolaryngol. 2013; 77:1440–5.
  29. Zhou J, Hertz JM, Tryggvason K. Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet. 1992; 50:1291–300.
  30. Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat. 2000; 16:7–12.
  31. Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat. 2001; 18:42–51.
DOI: https://doi.org/10.2478/abm-2024-0003 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
Language: English
Page range: 11 - 17
Published on: Mar 20, 2024
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year

© 2024 Qing-Qing Jiang, Juan-Juan Zhu, Shu-Ling Fan, Ya-Ping Hou, Xie-Ying Hu, Jie Shi, Lei Wu, Ying Luo, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution 4.0 License.