Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus
نویسندگان
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 کاملA frequent Pvu II RFLP of the human gastrin releasing peptide gene
SOURCE/DESCRIPTION: pB12, a 650 bp cDNA cloned at the Pst I and Hind III sites of pSP64 (Spindel et. al.). P0LYM0RPHIS: Pvu II detects two allelic fragments at 8.9 kb and 8.3 kb. OTHER COMMENTS: To obtain better separation of bands electrophorese on a 0.8% agarose gel until the xylene cyanol dye is at least 9 cm from the origin. ACKNOWLEDGEMENTS: We thank Ms. Denise Boorman for technical help.
متن کاملLPL gene Pvu II polymorphism and hypertriglyceridemia: a meta-analysis involving 1,640 subjects
BACKGROUND/AIMS Although lipoprotein lipase (LPL) gene Pvu II polymorphism has been associated with an increased risk of hypertriglyceridemia (HT), there is no clear consensus within the scientific community. METHODS A meta-analysis of 1,640 subjects from six individual studies was conducted to better elucidate the potential relationship between the LPL gene Pvu II polymorphism and HT within ...
متن کاملA BstE II RFLP at the DXS153 locus.
Source/Description: cpX12 is a 1.1 kb EcoRI single-copy genomic fragment cloned into pAT153 from a pool of 100 cosmids isolated from a human/hamster somatic cell hybrid containing only the human X chromosome (1). Polymorphism: cpX12 reveals a two-allele restriction fragment length polymorphism with bands at 0.7 kb and 1.9 kb (Al) or 2.6 kb (A2) after Southern blot analysis of human genomic DNA ...
متن کاملHuman aldolase B cDNA detects a Pvu II RFLP in healthy individuals
CODING SEQUENCE: Human aldolase B gene (ALDOB). The gene is a single copy and its chromosomal location is 9q21.3-q32 MENDELIAN INHERITANCE: Demonstrated in one family. The mother and the son are heterozygotes, whereas the father is a homozygote. OTHER COMMENTS: Hereditary fructose intolerance is due to a lack of aldolase B activity in liver. Although we observed no 2.3 kb homozygotes, no sign o...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1988
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/16.5.2358