Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: Two cases of arginine3500 → tryptophan mutation associated with a unique haplotype

Clinical Chemistry

Volumn 43, Issue 6, 1997, Pages 916-923

  Choong, Meng Ling ^a   Koay, Evelyn S C ^a,b   Khoo, Kah Lin ^c   Khaw, Min Cheh ^b   Sethi, Sunil K ^b  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^c Pantai Hospital   (Malaysia)

Author keywords

Genetic screening; Heritable disorders; Population screening

Indexed keywords

APOLIPOPROTEIN B100; APOLIPOPROTEIN E; CHOLESTEROL; DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHROMOSOME 19; CODON; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; LIPID ANALYSIS; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; RECEPTOR GENE;

EID: 0030926570     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.6.916     Document Type: Article

References (14)

1. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis [Review]. Science 1986;232:34-47.
2. Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver ER, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill Book Co., 1989:1215-50.
3. Vega GL, Grundy SM. In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. J Clin Invest 1986;78:1410-14.
4. Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A 1987;84:6919-23.
5. Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL, et al. Familial defective apolipoprotein B-100: a mutation of the apolipoprotein B that causes hypercholesterolaemia [Review]. J Lipid Res 1990;31:1337-49.
6. Myant NB. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis 1993;104:1-18.
7. Tybjæasrg-Hansen A. Rare and common mutations in hyperlipidemia and atherosclerosis [Review]. Scand J Clin Lab Invest 1995;55(Suppl 220):57-76.
8. Soria LF, Ludwig EH, Clarke HRG, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B polymorphism and familial defective apolipoprotein B-100. Proc Natl Acad Sci U S A 1989;86:587-91.
9. Knott TJ, Wallis SC, Powell LM, Pease RJ, Lusis AJ, Blackhart B, et al. Complete cDNA and derived protein sequence of human apolipoprotein B-100. Nucleic Acids Res 1986;14:7501-3.
10. März W, Baumstark MW, Scharnagl H, Ruzicka V, Buxbaum S, Herwig J, et al. Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor. J Clin Invest 1993;92:2922-33.
11. Nissen H, Hansen PS, Færgeman O, Hørder M. Mutation screening of codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis. Clin Chem 1995;41:419-23.
12. Pullinger CR, Hennessy LK, Chatterton JE, Liu W, Love JA, Mendel CM, et al. Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 1995;95:1225-34.
13. Gaffney D, Reid JM, Cameron IM, Vass K, Caslake MJ, Shepherd J, Packard CJ. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia. Arterioscler Thromb Vase Biol 1995;15:1025-9.
14. Milne R, Theolis R Jr, Maurice R, Pease RJ, Weech PK, Rassart E, et al. The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B. J Biol Chem 1989;33:19754-60.