A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.

S S Fojo; P Lohse; C Parrott; G Baggio; C Gabelli; F Thomas; J Hoffman; H B Brewer

doi:10.1172/JCI114287

Molecular Disease Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20892.

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Published in Volume 84, Issue 4 on October 1, 1989
J Clin Invest. 1989;84(4):1215–1219. https://doi.org/10.1172/JCI114287.
© 1989 The American Society for Clinical Investigation

Published October 1, 1989 - Version history

The apo C-II gene from a patient with apo C-II deficiency has been sequenced after amplification by the polymerase chain reaction. A substitution of an adenosine for a guanosine at position 3002 in exon 3 of the patient's gene was identified by sequence analysis. This mutation leads to the introduction of a premature termination codon (TAA) at a position corresponding to amino acid 37 of mature apo C-II and to the formation of a new Rsa I restriction enzyme site not present in the normal apo C-II gene. Amplification of DNA from family members by the polymerase chain reaction and digestion with Rsa I established that the patient is a true homozygote for the mutation. Analysis of the patient's plasma by two-dimensional gel electrophoresis and immunoblotting detected an apo C-II that exhibited abnormal electrophoretic mobility. We propose that the C to A substitution in the apo C-IIPadova gene is the primary genetic defect that leads to premature termination and the synthesis of a truncated 36 amino acid apo C-II that is unable to activate lipoprotein lipase.

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A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.

S S Fojo, P Lohse, C Parrott, G Baggio, C Gabelli, F Thomas, J Hoffman, and H B Brewer Jr

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A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.

S S Fojo, P Lohse, C Parrott, G Baggio, C Gabelli, F Thomas, J Hoffman, and H B Brewer Jr

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