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首页> 外文期刊>Cellular Physiology and Biochemistry >Integration of Human and Mouse Genetics Reveals Pendrin Function in Hearing and Deafness
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Integration of Human and Mouse Genetics Reveals Pendrin Function in Hearing and Deafness

机译：人类和小鼠遗传学的整合揭示了听力和耳聋中的Pendrin功能。

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Genomic technology has completely changed the way in which we are able to diagnose human genetic mutations. Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and iDFNB4/i non-syndromic hearing loss. While thus far most of the mutations have been in the iSLC26A4/i gene coding for the pendrin protein, other genetic mutations may contribute to these phenotypes as well. Furthermore, mouse models for deafness have been invaluable to help determine the mechanisms for iSLC26A4/i-associated deafness. Further work in these areas of research will help define genotype-phenotype correlations and develop methods for therapy in the future.
机译：基因组技术已经完全改变了我们诊断人类基因突变的方式。基因组技术（例如聚合酶链反应，连锁分析，Sanger测序以及最近的大规模并行测序）使研究人员和临床医生能够识别Pendred综合征和 DFNB4 非综合征性听力损失的患者的突变。到目前为止，大多数突变都存在于编码Pendrin蛋白的 SLC26A4 基因中，其他遗传突变也可能对这些表型有所贡献。此外，耳聋的小鼠模型对于帮助确定与SLC26A4相关的耳聋的机制具有重要意义。在这些研究领域的进一步工作将有助于定义基因型与表型的相关性，并在将来开发治疗方法。

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