The Establishment Of A Database For Familes With Hereditary Hearing Impairment In Jilin Province

Objective:The objectice is estabishing a database on inherited sensorineural hearing loss in JiLin province,analysising the local distribution situation,the heredity way,the audiology characteristis of collected pedigree and analysising the characteristic of disorder gene for gene vareation pedigree..The one of the significance of inherited sensorineural hearing loss is accumulating first-hand information for scientific research,the orther is lay the foundation for information collecting of the clinical trck changes in family members of the hearing,to guide their marriage,fertility, hearing compengsation methods and new family member.Method:1,Estabishing a database of inherited sensorineural hearing loss pedigree with 61 collected inherited sensorineural hearing loss pedigrees in JiLin procince.The database contains (1)general information on pedigree,member name,gender,date of birth,current address,identity card number,ect ;(2)applicating Cyrillic 2.1 software to draw family maps,and input the database;(3)the results of the family members hearing test;(4)the results of the pedigree gene test.2,Analysising the geographical distributiong in JiLin Province of inherited sensorineural hearing loss pedigree within database.3,Analysising the genetic styles of inherited sensorineural hearing loss pedigree within database.Results:1,We produce a software system.In this system,information that including general situation,family patterns,hearing tests and results of genetic testing can be easily found of 61 inherited sensorineural hearing loss pedigrees.2,We make sure the geographical distribution of JiLin Province of the existing pedigree.The 61 collected pedigrees mainly in the middle part of JiLin Province,surrounding the city of Changchun.3,In the existing 61 inherited sensorineural hearing loss pedigrees,there are 30(WH02～WH07,WH09～WH16,WH24,WH26,WH27,WH29,WH37,WH40,WH42,WH47,WH50,WH52～WH55,WH58～WH60)which are autosomal dominant inheritance,there are 7(WH17～WH23)which are autosomal recessive inheritance , there are 3(WH08,WH41,WH61) which are autosomal X-linked inheritance.The rest of 21 pedigrees(WH01,WH25,WH28,WH30～WH36,WH38,WH39,WH43～WH46,WH48,WH49,WH51,WH56,WH57),for the present investigation,does not show the typical genetic characteristics.Discussion:1,To estabish a database of inherited sensorineural hearing loss pedigrees of JiLin Province,preliminary analysising 61 inherited sensorineural hearing loss pedigrees located in 11 cities and 12 counties,the most modes of inheritance are autosomal dominant inheritance modes.Genetic variation has been detected in the GJB2 gene family mutation in the majority.Family members with severe hearing loss are the biggest share of the proportion of test.2,We need to do further work include:(1)further improving the existing data;(2)to collect more imformation of inherited sensorineural hearing loss pedigrees;(3)tracking changes in family members of the hearing,to guide their marriage,fertility and providing hearing compension method;(4)to determine the genetic variation of deaf families.