Detection And Analysis Of Common Deafness Genes In The North Of Anhui Province

Background Hearing impairment or deafness is the most common sensorineural disorder in China.It accounts for 33%among the patients with disabilities in China.About 1-3 of the 1000 children in the world are hearing impaired.The incidence of congenital deafness in China was 0.15%.Due to geographical location and language differences,the mutation sites and frequencies of common deafness genes in different regions will be different.There is no correlation study on deafness genes in north of Anhui Province till now.What is the mutation site and frequency of deafness gene in north of Anhui Province?What is the difference between the mutation of the deafness gene and the wild type phenotype?Objective The ratio of 9 mutation sites of 4 common genetic deafness genes in the region was detected,and the difference between the loci and other regions was analyzed.To elucidate the genetic etiology of deafness in this region,to provide accurate genetic counseling for deaf patients and families in the region.Methods From October 2015 to June 2017,there were 189 deaf patients in our hospital,104 men and 85 women,between the ages of 1 and 74,with an average age of 16 years old.133 cases of non-syndrome deafness patients in blood and fill out the "deaf patient clinical information collection table",access to relevant information of deaf patients,including gender,age,age of onset(less than 6 years for the early onset or late onset>6 years),during the family history,pregnant mother health status,history of drug use ototoxicity and head trauma history,and signed informed consent.The same from nine of genetic deafness gene chip 9 mutations of 4 common genes were detected,including single heterozygous mutation and congenital deafness but did not detect the mutation in peripheral blood of patients with Beijing CapitalBio Corporation to detect gene exon sequences,combined with clinical data,correlation analysis.Results Among 189 patients,27 cases of other diseases caused by other diseases,29 cases of sudden deafness,no mutation sites were detected.Among 133 patients with non-syndromic hearing loss(NSHL),55(41.35%)patients were identified with genetic mutations,the most common mutations were GJB2(24.81%),SLC26A4(12.03%)and mtDNA12SrRNA(6.02%).Among 9 mutation sites,the most ’common mutation sites were 235delC,IVS7-2A>G and 1555A>G,and the mutation rates of alleles were 35.45%,20.00%and 11.82%,respectively.In sequencing results,it was found that 10 of 17 cases with single heterozygous mutation deafness were sequenced in double heterozygous mutation,and the cause of deafness was clearly defined Of the 28 patients who did not pass hearing screening,2T>C/257C>G double heterozygous mutations,and the cause of deafness was identified.Conclusions Among the NSHL patients in the region,the most frequent mutation was GJB2(24.81%),the most common mutation gene was 235delC,and the allele mutation rate was 35.45%,which was significantly higher than that in other regions.9G>A,109,605-606ins46,511-512insAACG,35insG,35insG,257C>G,946G>T(P6),2027(P14),1183delTCT(P8),917insG(P6),etc.were detected by exon sequencing outside the 9 common mutation sites.