Mutational analysis of SLC26A5 IVS2-2A>G in Chinese Han patients with non-syndromic hearing loss
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    Abstract:

    Objective:To explore the relationship between non-syndromic hearing loss and SLC26A5 IVS2-2A > G transition in Chinese Han populations. Methods:Genomic DNA from 120 hearing impaired and 100 normal hearing control subjects were isolated and amplified using primers corresponding to IVS2-2 region of SLC26A5 gene. Each fragment was purified and subsequently analyzed by direct sequencing in an Applied Biosystems 3730 automated DNA sequencer. The resultant sequence data were compared with the standard sequence to identify IVS2-2A > G substitution. Results:PCR amplifications were successfully conducted in all the subjects. The IVS2-2A > G variant was not found in a total 220 Chinese Han people with either impaired or normal hearing,by sequence analysis. Conclusion:The carrier frequency for the SLC26A5 IVS2-2A > G DNA sequence variation in Chinese Han populations is very low or naught. Further studies are needed to elucidate the correlation between this mutation and hereditary hearing impairment.

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LIU Li-jun, WEI Qin-jun, CHEN Zhi-bin, LU Ya-jie, CAO Xin, XING Guang-qian. Mutational analysis of SLC26A5 IVS2-2A>G in Chinese Han patients with non-syndromic hearing loss[J].,2009,29(5):640-642.

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  • Received:January 13,2009
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