Journal of Clinical Investigation · 1990 · 72 citations · 11 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPopulation GeneticsGenetic DisordersGermline Variant AnalysisMutation AnalysisMutation ScreeningSickle Cell DiseaseVariant InterpretationGel ElectrophoresisGenetic Mutation DetectionHemoglobinopathy ScreeningMolecular Diagnosis Of HemoglobinopathiesPolyacrylamide Gel Electrophoresis
We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.
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Val C. Sheffield, David R. Cox, Leonard S. Lerman et al. · Proceedings of the National Academy of Sciences · 1989 · 1.3K citations · Full text
S G Fischer, Leonard S. Lerman · Proceedings of the National Academy of Sciences · 1983 · 891 citations · Full text
Richard G.H. Cotton, Nanda R. Rodrigues, R. Duncan Campbell · Proceedings of the National Academy of Sciences · 1988 · 625 citations · Full text