PRIMERS FOR IN VITRO DIAGNOSING MUTATIONS WITHIN THE AUTOSOMAL RECESSIVE NONSYNDROMIC HEREDITARY HEARING LOSS GENE GJB2 AND THE USE THEREOF

摘要

Primers for in vitro diagnosing mutations within the whole encoding region and the hot spot mutation 233-235delC of autosomal recessive nonsyndromic hereditary hearing loss geneGJB2. The primers can amplify the GJB2 gene's whole encoding region and the splice sites sequences on its both sides at one time. A kit and the like comprising the above primers and ApaI endonuclease, which can be used to in vitro detect mutations within the whole encoding region and the hot spot mutation 233-235delC of GJB2 gene. Besides identifying mutations within GJB2 by amplifying with primers and splicing by enzyme ApaI, the kit and the like can perform the sequencing PCR by using the same forward primers at the same time, and directly sequence by utilizing sequencer, and detect the mutations within the whole encoding region of GJB2 in one direction at one time, and sequence the found deletion or insertion heterozygous mutation by using the same backward primers. The kit and the like are therefore suitable for screening, diagnosis and genetic counseling the mutation within autosomal recessive nonsyndromic hereditary hearing loss geneGJB2.