Application of molecular genetics in diagnosing familial hypercholesterolemia;Genteknologisk diagnostikk av familiær hyperkolesterolemi

Tidsskrift for den Norske Laegeforening

Volumn 117, Issue 5, 1997, Pages 678-681

  Leren, Trond P ^a   Bakken, Kari Solberg ^a   Rødningen, Olaug K ^a   Gundersen, Kaja E ^a   Sundvold, Hilde ^a,c   Berg, Kåre ^a   Tonstad, Serena ^b   Ose, Leiv ^b  

^a Avdeling for Medisinsk Genetikk   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c NORWEGIAN UNIVERSITY OF LIFE SCIENCES   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; FEMALE; GENETIC PROCEDURES; GENETICS; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; MALE; NORWAY; NUCLEOTIDE SEQUENCE;

DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TECHNIQUES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; NORWAY; RECEPTORS, LDL;

EID: 0031579281     PISSN: 00292001     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Müller C. Angina pectoris in hereditary xanthomatosis. Arcr Intern Med 1939; 64: 675-700.
2. Goldstein JL, Hobbs HH, Brown MS, Familial hypercholesterolemia, I: Scriver CR, Baudet AL, Sly WS, Valle D, red. The metabolic basis of inherited disease, 7. utg. New York. McGraw-Hill, 1995: 1981-2030.
3. Slack J. Risk of ischaemic heart disease in familial hyperlipoproteinaemic states. Lancet 1969; 2: 1380-2.
4. Sugrue DD, Thompson GR, Oakley CM, Trayner IM, Steiner RE. Contrasting patterns of coronary atherosclerosis in normocholesterolaemic smokers and patients with familial hypercholesterolaerma. BMJ 1981; 283: 1358-60.
5. Heiberg A, Berg K. The inheritance of hyperlipoproteinemia with xanthomatosis. A study of 132 kindreds Clin Genet 1976; 9: 203-33.
6. Illingworth DR. Drug therapy of hypercholesterolemia. Clin Chem 1988; 34: 123-32.
7. Williams RR, Hamilton-Craig I, Kostner GM, Hegele RA, Hayden MR, Pimstone SN et al. MED PED: an integrated genetic strategy for preventing early deaths. I: Berg K, Boulyjenkov V, Christen Y, red. Genetic approaches to noncommunicable diseases. Berlin, Springer, 1996: 35-46.
8. Study Group. European Atherosclerosis Society. The recognition and management of hyperlipidaemia in adults: a policy statement of the European Atherosclerosis Society. Eur Heart J 1988; 9: 571-600.
9. Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985; 228: 815-22.
10. Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its m-RNA. Cell 1984; 39: 27-38.
11. Leren TP, Ose L. Er det behov for genteknologisk/cellebiologisk diagnostikk av familiær hyperkolesterolemi? Tidsskr Nor Lægeforen 1997; 117: 681-3.
12. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of preparative ultracentrifuge. Clin Chem 1972; 18: 499-502.
13. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-70.
14. Leren TP, Solberg K, Rødningen OK, Ose L, Tonstad S, Berg K. Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene. PCR Methods Appl 1993, 3: 159-62.
15. Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat 1993; 2: 404-14.
16. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-32.
17. Leren TP, Rødningen OK, Røsby O, Solberg K, Berg K. Screening for point mutations by semi-automated DNA sequencing using Sequenase and magnetic beads. Biotechniques 1993; 14: 618-23.
18. Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP. A 9.6 kb deletion in the low-density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects. Clin Genet 1992; 42: 288-95
19. Rødningen OK, Leren TP. Application of long polymerase chain reaction in the study of the LDL receptor gene. Scand J Clin Lab Invest 1996; 65: 93-6.
20. Leren TP, Sundvold H, Rødningen OK, Tonstad S, Solberg K, Ose L. Screening for known mutations in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects. Hum Genet 1995; 95: 671-6.
21. Soria LF, Ludwig EH, Clarke HRG, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100, Proc Natl Acad Sci USA 1989; 86: 587-91.
22. Hansen PS, Rüdiger N, Tybjærg-Hansen A, Færgeman O, Gregersen N. Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res 1991; 32: 1229-33.
23. Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994; 111 175-82.
24. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445-66.
25. Løhne K, Urdal P, Leren TP, Tonstad S, Ose L. Standardization of a flow cytometric method for measuremenet of low-density lipoprotein receptor activity on blood mononuclear cells. Cytometry 1995; 20: 290-5.