基因拷贝数变异在遗传性耳聋研究中的进展

耳聋是最常见的严重影响言语交流的残疾之一,每年至少有一半的新生聋儿是由于遗传缺陷引起的.引起耳聋的致病基因和突变种类众多,其中,基因拷贝数变异(Copy Number Variations,CNVs)被确认为是广泛存在于人类基因组DNA的重要变异形式,并且可以通过干扰基因表达来调控表型,是影响人类某些疾病的重要因素,其...

Progress of Copy Number Variations in the Hereditary Hearing Loss Studies

Hearing loss is one of the most common disabilities that severely affects speech communication,and at least half of all newborn deaf children each year are caused by genetic defects.Among the many types of pathogenic genes and mutations that cause hearing loss,copy number variations(CNVs)have been identified as important forms of variation that are widespread in human genomic DNA and can modulate phenotypes by interfering with gene expression,which is an important factor affecting certain human diseases and plays an important role in the pathogenesis of hereditary hearing loss.With the rapid development of genome sequencing technology,more and more pathogenic CNVs have been discovered,identified and localized.In this paper,we review the current research on the relationship between CNVs and hereditary hearing loss and elaborate on the important role of CNVs in the molecular diagnosis of hereditary hearing loss.