Progress in GJB2 gene and its diagnostic screening technique / 国际儿科学杂志

ABSTRACT

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.