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Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. 1990

M Emi, and A Hata, and M Robertson, and P H Iverius, and R Hegele, and J M Lalouel
Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.

In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme. Hybridization with allele-specific oligonucleotides at this position established that the patient was homozygous for this mutation. This mutation must lead to the synthesis of a sharply truncated protein, accounting for the enzymatic deficiency noted in the patient.

UI MeSH Term Description Entries
D006951 Hyperlipoproteinemias Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation. Hyperlipoproteinemia
D008071 Lipoprotein Lipase An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinemia Type I. (Dorland, 27th ed) EC 3.1.1.34. Heparin-Clearing Factor,Lipemia-Clearing Factor,Diacylglycerol Lipase,Diglyceride Lipase,Post-Heparin Lipase,Postheparin Lipase,Postheparin Lipoprotein Lipase,Factor, Heparin-Clearing,Factor, Lipemia-Clearing,Heparin Clearing Factor,Lipase, Diacylglycerol,Lipase, Diglyceride,Lipase, Lipoprotein,Lipase, Post-Heparin,Lipase, Postheparin,Lipase, Postheparin Lipoprotein,Lipemia Clearing Factor,Lipoprotein Lipase, Postheparin,Post Heparin Lipase
D008072 Hyperlipoproteinemia Type I An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. Apolipoprotein C-II Deficiency,Hyperchylomicronemia, Familial,Lipoprotein Lipase Deficiency, Familial,Burger-Grutz Syndrome,C-II Anapolipoproteinemia,Chylomicronemia, Familial,Familial Fat-Induced Hypertriglyceridemia,Familial Hyperchylomicronemia,Familial Hyperlipoproteinemia Type 1,Familial LPL Deficiency,Familial Lipoprotein Lipase Deficiency,Hyperlipemia, Essential Familial,Hyperlipemia, Idiopathic, Burger-Grutz Type,Hyperlipoproteinemia Type Ia,Hyperlipoproteinemia Type Ib,Hyperlipoproteinemia, Type I,Hyperlipoproteinemia, Type Ia,Hyperlipoproteinemia, Type Ib,LIPD Deficiency,Lipase D Deficiency,Lipoprotein Lipase Deficiency,Anapolipoproteinemia, C-II,Anapolipoproteinemias, C-II,Apolipoprotein C II Deficiency,Apolipoprotein C-II Deficiencies,Burger Grutz Syndrome,Burger-Grutz Syndromes,C-II Anapolipoproteinemias,Chylomicronemias, Familial,Deficiencies, Apolipoprotein C-II,Deficiencies, Familial LPL,Deficiencies, LIPD,Deficiencies, Lipase D,Deficiencies, Lipoprotein Lipase,Deficiency, Apolipoprotein C-II,Deficiency, Familial LPL,Deficiency, LIPD,Deficiency, Lipase D,Deficiency, Lipoprotein Lipase,Essential Familial Hyperlipemia,Essential Familial Hyperlipemias,Familial Chylomicronemia,Familial Chylomicronemias,Familial Fat Induced Hypertriglyceridemia,Familial Fat-Induced Hypertriglyceridemias,Familial Hyperchylomicronemias,Familial Hyperlipemia, Essential,Familial Hyperlipemias, Essential,Familial LPL Deficiencies,Fat-Induced Hypertriglyceridemia, Familial,Fat-Induced Hypertriglyceridemias, Familial,Hyperchylomicronemias, Familial,Hyperlipemias, Essential Familial,Hyperlipoproteinemia Type Ias,Hyperlipoproteinemia Type Ibs,Hyperlipoproteinemia Type Is,Hyperlipoproteinemias, Type I,Hyperlipoproteinemias, Type Ia,Hyperlipoproteinemias, Type Ib,Hypertriglyceridemia, Familial Fat-Induced,Hypertriglyceridemias, Familial Fat-Induced,LIPD Deficiencies,LPL Deficiencies, Familial,LPL Deficiency, Familial,Lipase D Deficiencies,Lipase Deficiencies, Lipoprotein,Lipoprotein Lipase Deficiencies,Syndrome, Burger-Grutz,Syndromes, Burger-Grutz,Type I Hyperlipoproteinemia,Type I Hyperlipoproteinemias,Type Ia Hyperlipoproteinemia,Type Ia Hyperlipoproteinemias,Type Ib Hyperlipoproteinemia,Type Ib Hyperlipoproteinemias
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009693 Nucleic Acid Hybridization Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503) Genomic Hybridization,Acid Hybridization, Nucleic,Acid Hybridizations, Nucleic,Genomic Hybridizations,Hybridization, Genomic,Hybridization, Nucleic Acid,Hybridizations, Genomic,Hybridizations, Nucleic Acid,Nucleic Acid Hybridizations
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons

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