ArticleThe Journal of clinical investigation1988
Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.
Article in The Journal of clinical investigation, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 65 citations in OpenAlex.
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- A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.Lipids in health and disease · 2016Article
- Electrophoretic screening for human apolipoprotein C-II variants: repeated identification of apolipoprotein C-II(K19T).Journal of molecular medicine (Berlin, Germany) · 1995Article
- Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.American journal of human genetics · 1993Article
- Apo C-II deficiency type Bari.European journal of epidemiology · 1992Article
- Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.Proceedings of the National Academy of Sciences of the United States of America · 1990Article
- Application of the polymerase chain reaction to the diagnosis of human genetic disease.Human genetics · 1990Review
- A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.The Journal of clinical investigation · 1989Article
- Genetic basis of lipoprotein disorders.The Journal of clinical investigation · 1989Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The DNA, RNA, and protein of apo C-II have been analyzed in a patient with apo C-II deficiency (apo C-IIHamburg). Markedly reduced levels of plasma and intrahepatic C-II apolipoprotein were demonstrated by immunoblotting and immunohistochemical analysis. Northern, slot blot, and in situ hybridization studies revealed low levels of a normal-sized apo C-II mRNA. No major rearrangement of the apo C-II gene was detected by Southern blotting. Sequence analysis of apo C-II genomic clones revealed a G-to-C substitution within the donor splice site of intron II. This base substitution resulted in the formation of a new Dde I and loss of a Hph I restriction enzyme cleavage site. Amplification of the mutant sequence by the polymerase chain reaction and digestion with Dde I and Hph I restriction enzymes established that the patient was homozygous for the G-to-C mutation. This is the initial report of the DNA sequence of an abnormal apo C-II gene from a patient with deficiency of apo C-II. We propose that this donor splice site mutation is the primary genetic defect that leads to defective splicing and ultimately to an apo C-II deficiency in this kindred.
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