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- W2380335761 abstract "AIM:To analyse the mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrical hereditaria(DSH).METHODS:The cDNA of DSRAD was amplified by RT-PCR using the total RNA extracted from humanperipheral blood.The PCR product was inserted into pTA2 vector and then transformed into E.coli DH5a.The positive recombinant clone was analyzed by DNA sequencing.We used the BLAST procedures to identify possible sites of mutation,and then tested it by the single strand conformation polymorphism.RESULTS:We found an mutation of A1167G.As the coded amino acids did not change(both glutamine),the mutation was a kind of synonymous mutation.Single-strand conformation polymorphism analysis showed that the mutation existed only in patients,not in healthy families and 100 unrelated controls.CONCLUSION:The synonymous mutation may result in dyschromatosis in patients.Its mechanism needs further study." @default.
- W2380335761 created "2016-06-24" @default.
- W2380335761 creator A5040027560 @default.
- W2380335761 date "2008-01-01" @default.
- W2380335761 modified "2023-09-28" @default.
- W2380335761 title "DSRAD gene mutation analysis in a family with dyschromatosis symmetrical hereditaria" @default.
- W2380335761 hasPublicationYear "2008" @default.
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