Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay

Clinical Genetics

Volumn 54, Issue 1, 1998, Pages 79-82

  Nissen, Henrik ^a   Lestavel, Sophie ^b   Hansen, Torben Stiig ^a   Luc, Gérald ^b   Bruckert, Eric ^c   Clavey, Veronique ^b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b INSERM   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Denaturing gradient gel electrophoresis; Diagnostic assays; Familial hypercholesterolemia; Mutation screening

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; ASSAY; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 0031879764     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03699.x     Document Type: Article

References (20)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Diseases, 7th edn. New York: McGraw-Hill, 1995: 1981-2030.
2. Pullinger CR, Hennessy LK, Chatterton JE, Liu W, Love JA, Mendel CM, Frost PH, Malloy MJ, Schumaker VN, Kane JP. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 1995: 95: 1225-1234.
3. Gaffney D, Reid JM, Cameron IM, Vass K, Caslake MJ, Shepard J, Packard CJ. Independent mutations at the codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol 1995: 15: 1025-1029.
4. Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B polymorphism and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 1989: 86: 587-591.
5. Lestavel Delattre S, Benhamamouch S, Agnani G, Luc G, Bard JM, Brousseau T, Billardon C, Kusnierz JP, de Gennes JL, Fruchart JC, et al. Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile. Metabolism 1994: 43: 397-402.
6. Maartmann Moe K, Magnus P, Golden W, Berg K. Genetics of the low density lipoprotein receptor: III. Evidence for multiple normal alleles at the low density lipoprotein receptor locus. Clin Genet 1981: 20: 113-129.
7. Slack J, Preece M, Giles P. Identification of children who are heterozygotes for familial hypercholesterolemia. In: Gotto AM, Smith LC, Allen B, eds. Proceedings of the Fifth International Symposium on Atherosclerosis. New York: Springer, 1980: 244-249.
8. Schmitz G, Brünning T, Kovacs E, Barlage S. Fluorescence flow cytometry of human leucocytes in the detection of LDL receptor defects in the differential diagnosis of hyper cholesterolemia. Arterioscler Thromb 1993: 13: 1053-1065.
9. Løhne K, Urdal P, Leren TP, Tonstad S, Ose L. Standardization of a flow cytometric method for measurement of low-density lipoprotein receptor activity on blood mononuclear cells. Cytometry 1995: 20: 290-295.
10. Nissen H, Guldberg P, Hansen AB, Petersen NE, Hørder M. Clinically applicable mutation screening in familial hypercholesterolemia. Hum Mutat 1996: 8: 168-177.
11. Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL, Russell DW. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984: 39: 27-38.
12. Jensen LG, Jensen HK, Kjeldsen M, Gerdes LU, Hansen PS, Færgeman O, Kølvraa S, Bolund L, Gregersen N. A new highly informative SmaI polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene. Clin Genet 1994: 45: 52-53.
13. Kotze MJ, Retief AE, Brink PA, Weich HFH. Molecular characterization of a low-frequency mutation in exon 8 of the human low-density lipoprotein receptor gene. S Afr Med J 1988: 76: 482-485.
14. Yamakawa-Kobayashi K, Kabayashi T, Obara T, Hamaguchi H. Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis. Hum Genet 1993: 92: 76-78.
15. Lombardi P, Sijbrands EJG, Kamerling S, Leuven JAG, Havekes LM. The T705I mutation of the low density liporotein receptor gene (FH Paris-9) does not cause familial hyper cholesterolemia. Hum Genet 1997: 99: 106-107.
16. Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL. The Lebanese allele at the low density lipoprotein receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmatic reticulum. J Biol Chem 1987: 262: 401-410.
17. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992: 1: 445-466.
18. Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Marx MP, Oosthuizen CJ, Retief AE. The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. S Afr Med J 1989: 76: 399-401.
19. Lfleitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990: 85: 1014-1023.
20. Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. Clin Chem 1996: 42: 1140-1146.