Screening GJB2 Mutations in Hearing Loss

Genomic DNA was extracted from the whole blood samples using the Blood DNA kit (TIANGEN BIOTECH, Beijing, China). Mutation screening of all exons and flanking splicing sites of GJB2 was performed by PCR amplification and bidirectional sequencing as previously described [11] (link). The dominant mutations identified in this study were also screened in 100 ethnically-matched normal hearing controls.

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Pang X., Chai Y., Sun L., Chen D., Chen Y., Zhang Z., Wu H, & Yang T. (2014). Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans. PLoS ONE, 9(6), e100483.

Publication 2014

Blood DNA kit

Blood Exons Genomic Mutations

Corresponding Organization : Shanghai Jiao Tong University

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Variable analysis

independent variables

Genomic DNA extraction method (Blood DNA kit)

dependent variables

Presence/absence of mutations in GJB2 gene

control variables

Whole blood samples
Ethnically-matched normal hearing controls

controls

Positive control: Not explicitly mentioned
Negative control: 100 ethnically-matched normal hearing controls used to screen for the dominant mutations identified in the study

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