High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

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High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase Kirstine Ravn, Maja Chloupkova, Ernst Christensen, Niels Jacob Brandt, Henrik Simonsen, Jan P. Kraus, Inge Merete Nielsen, Flemming Skovby, Marianne Schwartz The American Journal of Human Genetics Volume 67, Issue 1, Pages 203-206 (July 2000) DOI: 10.1086/302971 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Western blot analysis of PCC α- and β-subunits. A,α- and β-subunits expressed in fibroblasts. Lane 1, Purified recombinant human PCC (100 ng). Lane 2, Control fibroblast cell line 2047 (80 μg). Lane 3, Cell line 3173, from the patient homozygous for 1540insCCC (80 μg). B, α- and β-subunits expressed in E. coli. Lane 1, Purified recombinant human PCC (100 ng). Lanes 2 and 3, Equal amounts of crude bacterial extracts (30 μg), expressing either wild-type PCC (lane 2) or 1540insCCC (513insP) (lane 3) protein. Lane 4, Bacterial extract from DH5α cells without pPCCAB plasmid (30 μg). The American Journal of Human Genetics 2000 67, 203-206DOI: (10.1086/302971) Copyright © 2000 The American Society of Human Genetics Terms and Conditions