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- W2360711781 abstract "Objective To investigate the differences in GJB2 gene mutation frequency between the familial and sporadic patients with hearing impairment in Northwest China.Methods Eighty-seven patients with hearing impairment from twenty-nine families and 169 deaf students from the Special Eaducation School of Qingyang City in Gansu Province were enrolled in this study.Peripheral blood samples were obtained and DNA templates were extracted by phenol-chloro-form method.Using polymerase chain reaction(PCR),the coding region of the GJB2 gene was amplified.Mutations were detected by sequencing.Results Mutations of GJB2 gene was found in twenty-eight cases(32.18%) in familial patients,twenty-four cases(14.20%) in sporadic patients and four cases(4.27%) in control group,respectively.Conclusion The mutation frequency of GJB2 gene is different among the familial and sporadic patients with hearing impairment and the normal hearing subjects.The differences are statistically significant(χ2 = 11.474,P 0.05).It is strongly suggested to screen the relatives of the patients with the mutation of GJB2." @default.
- W2360711781 created "2016-06-24" @default.
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- W2360711781 date "2008-01-01" @default.
- W2360711781 modified "2023-09-23" @default.
- W2360711781 title "Mutation study of GJB2 gene in families with nonsyndromic hearing impairment in Northwest China" @default.
- W2360711781 hasPublicationYear "2008" @default.
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