Bst-1 RFLP at the human lipoprotein lipase (LPL) gene locus
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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...
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We investigated, in the present study, the role of reactive oxygen intermediates (ROI) in the control of macrophage lipoprotein lipase (LPL) secretion. Exposure of murine macrophages to increasing concentrations of hydrogen peroxide (H2O2) resulted in enhanced basal LPL production and mRNA levels. The increase of LPL production was reduced in the presence of antioxidants. Oxidant stress also mo...
متن کاملImproved visualization of the Bst EII RFLP of the human LDL receptor gene by co-digestion.
Bst EII identifies, a bi-allelic polymorphism in the human LDL receptor gene (l). The 33kb allelc cannot readily be distinguished from the 24kb fragment in the heterozygote using a 0.6 agarose gel. Lower percentage gels often cause handling problems. We suggest co-digestion of DNA with non-polymorphic enzymes such as Eco RI (or Bam HI). Figure 1 shows an autoradiograph of a Southern blot where ...
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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 ...
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LPL, lipoprotein lipase; TG, triglyceride; VLDL, very low density lipoproteins; HL, hepatic lipase; PL, pancreatic lipase; EL, endothelial lipase; HSPG, heparin sulfate proteoglycans; cld, combined lipase deficiency; fld, fatty liver dystrophy; LMF, lipase maturation factor; ANGPTL, angiopoietin-like; RAP, receptor-associated protein; APOA5, apolipoprotein A5; CHO, carbohydrate. Articles in Pre...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1988
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/16.24.11856