GJB2基因及其诊断筛查技术研究进展

耳聋基因GJB2定位于13q11-q12,编码connexin26(CX26)蛋白.在常染色体隐形遗传的非综合征性耳聋中,有50%的患者存在着GJB2基因的突变,然而在不同种族中,GJB2基因的突变位点也是不同的.35delG是欧美人群主要的突变形式;突变位点167delT在犹太耳聋人群中多见;而在亚裔人群中,235delC突变占有极大的比例.由于GJB2基因在遗传性耳聋中的特殊地位,因此对于GJB2基因的诊断及筛查技术就显得尤为重要.在新生儿听力筛查基础上,融入耳聋易患基因分子水平筛查,在早期发现和干预先天性听力损失方面发挥着重要作用.

Progress in GJB2 gene and its diagnostic screening technique

Deafness gene GJB2 is located in 13q11-q12,which codes for the protein connexin 26(CX26). Up to 50% of autosomal recessive nonsyndromic hearing loss are accounted for by mutations in the GJB2 gene. However, in different ethnic groups, the mutational sites of GJB2 gene are also different. For examples, 35delG is the most common mutation in Europe and USA. In Ashkenazi Jews, 167delT is most common. While among the Asians,235delC is makes up a large proportion of the GJB2 gene mutation. Because of the special status of GJB2 gene in hereditary hearing loss, its diagnostic screening technique is especially important. On the basis of newborn hearing screening, it is suggested that we should be to blend into the deaf disease gene screening at the molecular level, because they play an important role in early detection and intervention on congenital hearing loss.