Application Of DNA Microarray On Non-syndromic Deafness Gene Mutations

Objective To explore using gene microarray and DNA sequencing technology to detect the gene mutations of the non-syndromic hearing loss(NSHL)patient with type of clinical application value.Methods Collect and analyze patient general condition and the change of the hearing process,increase or reduce the inducing factors,deaf history,family history,check the general condition to eliminate non-syndromic hearing loss.Collect the non-syndromic hearing loss patients and the healthy check-up venous blood specimens,DNA was extracted from a non-syndromic deaf patient and amplified by PCR.The deaf patient was detected with DNA microarray,and DNA sequencing method was used to validate it.Comprehensive analysis of China’s regional GJB2 gene mutations in patients without syndrome deafness,we compared the different standards of patients in experiments,testing technology,the differences experimental data,and we formulated unified deafness gene epidemiological investigation in our country the standardization of the standard.The healthy subjects with normal audition,who are no family history of hereditary hearing loss of physical normal crowd as normal controls.Results Deafness caused by a hereditary deafness is mainly refers to genetic abnormality,feeling is the most common human nervous system defects.The disease by autosomal recessive,autosomal dominant,X-linkage and mitochondrial genetic way passed on to the next generation.And in 30% of genetic deafness with other symptoms,referred to as the syndrome type deafness;70% with no other symptoms,referred to as the syndrome type deafness.The GJB2 gene 235 del C was detected in 9 hot-spot mutations in four most common pathologic genes associated with NSHL,including GJB2(35del G,176del16,235 del C,299 del AT),GJB3(C538T),SLC26A4(IVS7-2A>G,A2168G)and mitochondrial12 S r RNA(A1555G,C1494T).The results of the gene chip were identical to sequencing results.All the results in the healthy controls were negative.NSHL patients with the crowd in the GJB2 gene coding region were found 23 kinds of nucleotide sequence change,including: five framework frame shift mutations,a nonsense mutation,15 missense mutation and two synonymous mutations.At the same time,GJB2 gene mutations in asians also have higher proportion to carry hereditary deafness.In the Chinese population survey,the main mode of GJB2 gene mutations is 235 de1 c.GJB2gene is our country the syndrome type of deaf people in one of the most important factors of deafness.Conclusion The NSHL patient has a 235 del C homozygous mutation in the GJB2 gene.DNA microarray helps diagnose non-syndromes deafness.Deafness gene chipmethod was used to detect such diseases.Joint molecular epidemiological investigation、prenatal gene diagnosis for fertility regulation and intervention have important clinical significance.