Study On Gene Mutation Of Waardenburg Syndrome And Etiology And Pathogenesis Of Traditional Chinese Medicine

Objective:With the accelerated pace of life,people’s mental stress is increasing,more and more people are plagued by the disease.Many acquired deafness by a certain number of drugs,physical therapy and other treatment can be improved,However,there is no effective treatment for children with congenital deafness.Therefore,the study of gene for congenital deafness has become a hot research topic.Waardenburg syndrome is a common kind of disease,more and more scholars have devoted themselves to the research in order to fully understand the development of the disease from the molecular level and treat the disease by means of gene.In this study,two WS families and ten sporadic WS patients were collected(The prelim-nary judgment conforms to WS1 and WS2),mutations in the four genes(PAX3,MITF,SOX10,SNAI2)associated with WS1 and WS2 were determin-ed in order to understand the relationship between phenotype and genotype of WS.In addition,The etiology and pathogenesis of WS were analyzed from the perspective of traditional Chinese medicine.Methods:Based on the collected samples and clinical data of deaf families around the Hubei part of special schools and Rehabilita-tion Center for acquisition,according to the diagnostic criteria of Waardenburg syndrome,collected two WS families and ten sporadic WS patients,and detailed history.Details of the medical history,according to their clinical data for the preliminary classification,the use of Cyrillic 2.1 drawing software to draw the family genetic map,signed informed consent,and access to peripheral blood samples.Polymerase chain reaction(PCR)was used to amplify all exons of PAX3,JMITF,SOX10 and SNAI2 candidate gene coding regions.The PCR products of exon amplification were sequenced by ABI automated sequencer,and the data were analyzed by GeneTool software and molecular biology website.Results:①According to the diagnostic criteria of Waardenburg syndrome,Combination of two pedigrees(number 1 families、number 2 families)and ten sporadic patients(HuB-21、HuB-34.HuB-66、HuB-107、HuB-357、HuB-397、HuB-421、HuB-433、HuB-448、SY-2)analysis of the clinical data of HB-1 with WS1,the remaining family and sporadic cases are in line with WS2;② Through the detection of candidate genes PAX3,MITF,SOX10,SNA12,The families of 2 and HuB-433 were detected in PAX3 gene mutations,including 2 families of the proband and his mother were found c.92C>G(p.T31S)mutation,HuB-433 found mutations in c.220C>T(p.R74C).The families of 1 and HuB-448 were detected in MITF gene mutations,including 1 fami-lies of the proband and his mother were found c.1162-1 G>A mutation,HuB-448 found mutations in c.859G>T(p.E287X).HuB-397 detected SOX10exon 3 mutations:c.331T>C(p.F111L).C.92C>G mutations have been reported in the PAX3 gene,c.1162-1 G>A、c.220C>T、c.859G>T and c.331T>C have not been reported;③HuB-21、HuB-34、HuB-107、HuB-357 and SunYi-2 were not detected pathogenic gene mutation.Conclusions:① WS2 is one of the most common types of WS in the study,and most of the patients with WS2 are associated with congenital sensorineural hearing loss,these are consistent with previous reports;②The identification of mutations in these genes provides the basis for prenatal diagnosis of these families;③ WS gene mutation was not detected in some of the patients with WS2,suggesting that there may be a new disease causing genes;④The different phenotypes of WS show that the treatment of this disease is more complex,and based on the overall concept of Chinese medicine for the treatment of this disease may receive a good effect.