The Molecular Epidemiology Discussion Of Newborn Deafness Pathogenic Screening

ObjectiveTo discuss the report of newborn gene screening in order to find the feature of the epidemiologic of the pathogenic in Liaoning province.discuss the relationship of the genes mutations and facters. providing a basis to draft pre-deaf and treat-deaf strategy.Methodsix hundred and fiftynine newborn babies from Feb.2008 to Jun 2009 accepted the gene screening. Newborn genetic disease screening cards (the utility Model Patent-200720103139.4) were used for collecting the blood spot from the calcar pedis within the moment of newborn. The cards can be directly performed the polymerase chain reaction (PCR) for screening the mitochondrial 12SrRNA 1555G and GJB2 as well as SLC26A4 genes mutations. The restriction enzyme Alw26I was used to recognize the point mutation of 12SrRNA A1555G. The samples with the possible 12SrRNA A1555G mutation were then sequenced to verify. The PCR products from the GJB2 coding region and SLC26A4 IVS7-2A>G hot spot region were sequenced directly. The software of DNAStar was used to analysis the sequence,molecular epidemiology discussion of the newborn with genes mutations.ResultFor the GJB2 gene screening, seven were 235delC heterozygote,1.06%; For the SLC26A4 gene screening, three with the heterozygote of IVS7-2A>G mutation was found,0.46%; Totally 1.52%of newborn carried the genes mutaion.2.01% male carried the genes mutation,female 0.96%.1.82% of the Manchu carried the genes mutation,Han 1.57%.ConclusionIt may be all the gene screening found 10 newborn babies of the 659 harbored the changes in the three genes. Totally 1.52%of newborn carried the genes mutaion.We found the tendency is male has more carried mutation than female,Manchu has more carried mutation than Han.Newborn gene screening for the purpose of early diagnosis and discovery the prelingual or late-onset or the high risk as well as the pathogenic carriers.This providing a basis to draft pre-deaf and treat-deaf strategy.