title: Analysis of the apoC-II gene in apoC-II deficient patients.
abstract: Apolipoprotein C-II (apoC-II), a 79 amino acid protein, is a cofactor for lipoprotein lipase, the enzyme which catalyzes the lipolysis of triglycerides on plasma chylomicrons and VLDL. Patients with apoC-II deficiency have marked elevations in plasma triglycerides, chylomicrons, VLDL, and a type I hyperlipoproteinemia. In order to evaluate the molecular defect in apoC-II deficiency, genomic DNA was analyzed using Southern Blot from 2 independent apoC-II deficient patients and compared to normal controls. Restriction digests of genomic DNA were performed with five different enzymes and the restriction fragments analyzed utilizing a 354 base pair nick-translated apoC-II probe for hybridization following Southern blotting. The restriction fragments varied from 0.8 to 21 Kb, and the pattern with normal DNA was identical to that of the two apoC-II deficient patients. The present study reveals that the apoC-II gene is present in patients with apoC-II deficiency. In addition, no insertional or deletional polymorphism was detected in the apoC-II gene of apoC-II deficient patients.
mesh_terms: D000328:Adult; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D002648:Child; D003001:Cloning, Molecular; D004247:DNA / Q000302:isolation & purification / Q000378:metabolism; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D012016:Reference Values
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D004247:DNA; D004262:DNA Restriction Enzymes