Idan Natali, Brownstein Zippora, Shivatzki Shaked, Avraham Karen B
J Basic Clin Physiol Pharmacol. 2013;24(3):165-70. doi: 10.1515/jbcpp-2013-0063.
Hereditary hearing loss affects a significant proportion of the hearing impaired, with genetic mutations estimated to be responsible for its etiology in over 50% of this population. The methods for molecular diagnostics are changing as a result of the transition from linkage analysis to next generation sequencing to identify the genes responsible for hearing loss in affected families. In this review, we summarize the attitudes of the hearing impaired towards genetic testing, the latest techniques for identifying mutations, and provide a comprehensive list of the mutations found in the Israeli Jewish hearing-impaired population.
遗传性听力损失影响着相当一部分听力受损者，据估计，超过50%的该人群病因是基因突变。由于从连锁分析到新一代测序的转变，用于分子诊断的方法正在发生变化，以确定受影响家庭中导致听力损失的基因。在这篇综述中，我们总结了听力受损者对基因检测的态度、识别突变的最新技术，并提供了在以色列犹太听力受损人群中发现的突变的完整列表。
