Mutational Analysis Of SLC26A5 IVS2-2A>G In Chinese Han Patients With Non-syndromic Hearing Loss

Objective: To explore the relationship between non-syndromic hearing loss andSLC26A5 IVS2-2A>G transition in Chinese Han populations.Methods: Genomic DNA from 120 hearing impaired and 100 norma l hearing controlsubjects were isola ted and PCR amplified using primers correspond ing to IVS2-2region of SLC26A5 gene. Each fragment was purified and subseq uently analyzed bydirect sequencing in an Applied Biosystems 3730 automa ted DNA sequencer. Theresultant sequence data were compared with the standard sequence to identify IVS2-2A>G substitution.Results: PCR amplifica tions were successfully conducted in all the subjects. TheIVS2-2A>G varia nt was not found in a total 220 Chinese Han people with eitherimpaired or norma l hearing, by sequence analysis.Conclusion: The carrier frequency for the SLC26A5 IVS2-2A>G DNA sequencevariation in Chinese Han populations is very low or naught. Further studies areneeded to elucida te the correla tion between this mutation and hered itary hearingimpairment.