Two polymorphisms in the human lipoprotein lipase (LPL) gene
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چکیده
منابع مشابه
Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
متن کاملTwo polymorphisms for the human hepatic lipase (HL) gene.
SOURCE AND DESCRIPTION OF CLONE: A 1.65 kb ECORI cDNA insert corresponding to the full length hepatic lipase (HL) sequence isolated from a rat liver cDNA library (I). CHROMOSOMAL LOCALIZATION: Chromosome 15q21 by somatic cell and in situ hybridization (2).
متن کاملLipoprotein lipase gene polymorphisms as risk factors for stroke: a computational and meta-analysis
Objective(s): Stroke is the most common neurological disorder and genetic susceptibility has an important role in its etiology. Polymorphism in several genes such as lipoprotein lipase (LPL) is propounded as a risk for stroke. This meta-analysis investigated the association of rs285 and rs320 LPL polymorphism with stroke risk. Materials and Methods: We searched PubMed, Clarivate Analytics Web o...
متن کاملHeterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense ...
متن کاملAssociation of lipoprotein lipase gene polymorphisms with coronary artery disease.
OBJECTIVES The purpose of this study was to test whether the HindIII (+) and PvuII (-) or (+) restriction enzyme-defined alleles are associated with angiographic coronary artery disease (CAD). BACKGROUND Lipoprotein lipase (LPL) plays a central role in lipid metabolism, hydrolyzing triglyceride in chylomicrons and very low density lipoproteins. Polymorphic variants of the LPL gene are common ...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1987
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/15.18.7657