Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Prevalence of the GJB2 IVS1+1G A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 | Yuan et al. Journal of Translational Medicine 2010 8 127 http content 8 1 127 TRANSLATIONAL MEDICINE RESEARCH Open Access Prevalence of the GJB2 IVS1 1G A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 Yongyi Yuant Fei Yuf Guojian Wang1 Shasha Huang Ruili Yu Xin Zhang Deliang Huang Dongyi Han Pu Dai Abstract Background Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6 of Chinese patients with severe to profound sensorineural hearing impairment only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity have been identified. This paper reports the prevalence of the GJB2 IVS1 1G A mutation in a population of Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. Methods Two hundred and twelve patients screened from 7133 cases of nonsyndromic hearing loss in China with monoallelic mutation mainly frameshift and nonsense mutation in the coding region of GJB2 were examined for the GJB2 IVS1 1G A mutation and mutations in the promoter region of this gene. Two hundred and sixty-two nonsyndromic hearing loss patients without GJB2 mutation and 105 controls with normal hearing were also tested for the GJB2 IVS1 1G A mutation by sequencing. Results Four patients with monoallelic mutation in the coding region of GJB2 were found carrying the GJB2 IVS1 1G A mutation on the opposite allele. One patient with the GJB2 mutation carried one variant -3175 C T in exon 1 of GJB2. Neither GJB2 IVS1 1G A mutation nor any variant in exon 1 of GJB2 was found in the 262 nonsyndromic hearing loss patients without GJB2 mutation or in the 105 normal hearing controls. Conclusion Testing for the GJB2 IVS 1 1 G to A mutation explained deafness in of Chinese GJB2 monoallelic patients and it should be included in routine testing of patients with GJB2 monoallelic
