Detection Of ADAR1 Gene Mutation In A Chinese Han Family With Dyschromatosis Symmetrica Hereditaria

Objective:To investigate the ADAR1 gene mutation of dyschromatosis symmetrica hereditaria of a Chinese Han family and detect the possible nosogenesis of the dyschromatosis symmetrica hereditaria.Methods:Collect a dyschromatosis symmetrica hereditaria family of Chinese Han from our hospital outpatient.And then take two patients from this family as the research target.Make a good chat with all the people of group,which includes all patients,phenotypically normal family members as well as 100 healthy controls.Obtain peripheral blood from them carefully.We can use correct software to design primers for the target gene.We must abserve a reasonable principle in this process.Ask the biotech firm for the help of synthesizing primers of ADAR1 gene.Besides,perform the PCR amplification before we take the gene detection.The next stage,we should analyse the results of the ADAR1 gene sequence by using Chromas software(version 2.0).What's more,determin the mutations and predict the related protein function.Results:We dectect the missense mutation(c.3232C>T)in the 13 th exon of the ADAR1 gene of the three dyschromatosis symmetrica hereditaria patients,which results in the amino acid changed from normal arginine to cysteine,while this mutation was not found in phenotypic normal family members as well as the unrelated 100 healthy controls.Conclusion:The missense mutation(c.3232 C > T)was occured in the exon 13 of ADAR1 gene,which makes the encoding protein and its function have a great change.Of course,we have the reason infer the chaning of the phenotype of this family may have a good connection with this gene mutation.