Simple and effective determination of apolipoprotein E genotypes by positive/negative polymerase chain reaction products

Diagnostic Molecular Pathology

Volumn 15, Issue 3, 2006, Pages 180-185

  Seripa, Davide ^a,d   Signori, Emanuela ^b,c   Gravina, Carolina ^a   Matera, Maria Giovanna ^a   Rinaldi, Monica ^b   Fazio, Vito M ^b,c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b CNR   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d Pathology of Aging and Oncology Unit   (Italy)

Author keywords

Allele specific PCR; Apolipoprotein E; Genotyping; Polymorphism; Primer mismatch

Indexed keywords

APOLIPOPROTEIN E; TAQ POLYMERASE;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENOTYPE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; APOLIPOPROTEINS E; CARDIOVASCULAR DISEASES; DNA; DNA PRIMERS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RISK;

EID: 33748293009     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.pdm.0000213451.99655.1d     Document Type: Article

References (54)

1. Siest G, Pillot T, Régis-Bailly T, et al. Apolipoprotein E: an important gene and protein to follow in laboratory medicine. Clin Chem. 1995;41:1068-1086.
2. Dammerman M, Breslow JL. Genetic basis of lipoprotein disorders. Circulation. 1995;91:505-512.
3. Walden CC, Hegele RA. Apolipoprotein E in hyperlipidemia. Ann Intern Med. 1994;120:1026-1036.
4. Davignon J. Apolipoprotein E polymorphism, dyslipidemia and atherosclerosis. Nutr Metab Cardiovasc Dis. 1991;1:53-56.
5. Wilson PF, Myers RH, Larson MG, et al. Apolipoprotein E alleles, dyslipidemia, and coronary heart disease. The Framingham Offspring Study. JAMA. 1994;272:1666-1671.
6. Davignon J, Gregg RE, Sing F. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988;8:1-21.
7. Wilson PF, Myers RH, Larson MG, et al. Apolipoprotein E alleles, dyslipidemia, and coronary heart disease. The Framingham Offspring Study. JAMA. 1994;272:1666-1671.
8. Tiret L, de Knijff P, Menzel H-J, et al. ApoE polymorphism and predisposition to coronary heart disease in youths of different european populations. The EARS study. Arterioscler Thromb. 1994;14:1617-1624.
9. De Knijff P, Havekes LM. Apolipoprotein E as a risk factor for coronary heart disease: a genetic and molecular biology approach. Curr Opin Lipidol. 1996;7:59-63.
10. De Graba TJ, Penix L. Genetics of ischemic stroke. Curr Opin Neurol. 1995;8:24-29.
11. Margaglione M, Seripa D, Gravina C, et al. Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: and Italian case-control study. Stroke. 1998;29:399-403.
12. Elbaz A, Amarenco P. Genetic susceptibility and ischemic stroke. Curr Opin Neurol. 1999;12:47-55.
13. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high-avidity binding to b-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad USA. 1993;90:1977-1981.
14. Charter-Harlin M-C, Parfitt M, Legrain S, et al. Apolipoprotein E, e4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region. Hum Mol Genet. 1994;3:569-574.
15. Masullo C, Daniele A, Seripa D, et al. Apolipoprotein E genotype in sporadic early- and late-onset Alzheimer's disease. Dement Geriatr Cogn Disord. 1998;9:121-125.
16. Teasdale GM, Nicoll JA, Murray G, et al. Association of apolipoprotein E polymorphism with outcome after head injury. Lancet. 1997;350:1069-1071.
17. Jordan BD, Relkin NR, Ravdin LD, et al. Apolipoprotein E e4 associated with chronic traumatic brain injury in boxing. J Am Med Ass. 1997;278:136-140.
18. Smith JD. Apolipoprotein E4: an allele associated with many diseases. Ann Med. 2000;32:118-127.
19. Nickerson DA, Taylor SL, Fullerton SM, et al. Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. Genome Res. 2000;10:1532-1545.
20. Bouthillier D, Sing CF, Davignon J. Apolipoprotein E phenotyping with a single gel method: application to the study of informative mathings. J Lipid Res. 1983;24:1060-1069.
21. Kakatoa S, Paidi M, Howard BV. Simplified isoelectric focusing/immunoblotting determination of apolipoprotein E phenotype. Clin Chem. 1994;40:11-13.
22. Steinmetz A. Phenotyping of human apolipoprotein E from whole blood plasma by immunoblotting. J Lipid Res. 1987;28:1364-1370.
23. Hackler R, Schafer JR, Motzny S, et al. Rapid determination of apolipoprotein E phenotypes from whole plasma by automated isoelectric focusing using PhastSystem and immunofixation. J Lipid Res. 1994;35:153-158.
24. Golaz O, Sanchez JC, James RW, et al. Phenotyping of apolipoprotein E using immobilized pH gradient gels for one-dimensional and two-dimensional separations. Electrophoresis. 1995;16:1184-1186.
25. Zannis VI, Breslow JL, Utermann G, et al. Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes. J Lipid Res. 1982;23:911-914.
26. Wenham PR, Sedky A, Spooner RJ. Apolipoprotein E phenotyping: a word of caution. Ann Clin Biochem. 1991;28:599-605.
27. Snowden C, Houlston RS, Arif MH, et al. Disparity between apolipoprotein E phenotypes and genotypes (as determined by polymerase chain reaction and oligonucleotide probes) in patients with non-insulin-dependent diabetes mellitus. Clin Chim Acta. 1991;196:49-58.
28. Saiki RK, Bugawan TL, Horn GT, et al. Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature. 1986;324:163-166.
29. Maekawa B, Cole TG, Seip RL, et al. Apolipoprotein E genotyping methods for the clinical laboratory. J Clin Lab Anal. 1995;9:63-69.
30. Tsai MY, Suess P, Schwichtenberg K, et al. Determination of apolipoprotein E genotypes by single-strand conformational polymorphism. Clin Chem. 1993;39:2121-2124.
31. Aozaki R, Kawaguchi R, Ogasa U, et al. Rapid identification of the common apo E isoforms genotype using polymerase chain reactionsingle strand conformation polymorphism (PCR-SSCP). Mol Cell Probes. 1994;8:51-54.
32. Smeets HJ, Poddighe J, Stuyt PM, et al. Identification of apolipoprotein E polymorphism by using synthetic oligonucleotides. J Lipid Res. 1988;29:1231-1237.
33. Wenham PR, Newton CR, Price WH. Analysis of apolipoprotein E genotypes by the amplification refractory mutation system. Clin Chem. 1991;37:241-244.
34. James E, Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res. 1990;31:545-548.
35. Kontula K, Aalto-Setälä K, Kuusi T, et al. Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing. Clin Chem. 1990;36:2087-2092.
36. Wenham PR, Price WH, Blundell G. Apolipoprotein E genotyping by one-stage PCR. Lancet. 1991;337:1158-1159.
37. Appel E, Eisenberg S, Roitelman J. Improved PCR amplification/HhaI digestion for unambiguous determination of apolipoprotein E alleles. Clin Chem. 1995;41:187-190.
38. Dallinga-Thie GM, van Linde-Sibenius Trip M, Kock LAW, et al. Apolipoprotein E2/E3/E4 genotyping with agarose gels. Clin Chem. 1995;41:73-75.
39. Reymer WA, Groenmeyer BE, van de Burg R, et al. Apolipoprotein E genotyping on agarose gel. Clin Chem. 1995;41:1046-1047.
40. Zivelin A, Rosemberg N, Peretz H, et al. Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enztymes. Clin Chem. 1997;43:1657-1659.
41. Bolla MK, Haddad L, Humphries SE, et al. High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis. Clin Chem. 1995;41:1599-1604.
42. Schlenck A, Bohnet K, Aguillon D, et al. High sensitivity of laser-induced fluorescence detection in capillary gel electrophoresis for accurate apolipoprotein E genotyping. Biotechniques. 1997;22:736-742.
43. Baron H, Fung S, Aydin A, et al. Oligonucleotide ligation assay for detection of apolipoprotein E polymorphisms. Clin Chem. 1997;43:1984-4986.
44. Sell SM, Ren K. Automated capillary electrophoresis in the genotyping of apolipoprotein E. Genomics. 1997;46:163-164.
45. Kohler T, Rost AK, Purschwitz K, et al. Genotyping of human apolipoprotein E alleles by the new qualitative, microplate-based CASSI-detection assay. Biotechniques. 1998;25:80-85.
46. Bernard PS, Pritham GH, Wittwer CT. Color multiplexing hybridization probes using the apolipoprotein E locus as a model system for genotyping. Anal Biochem. 1999;273:221-228.
47. Marrazza G, Chiti G, Mascini M, et al. Detection of human apolipoprotein E genotypes by DNA electrochemical biosensor coupled with PCR. Clin Chem. 2000;46:31-37.
48. Saunders AM, Mulette C, Welsh-Bohmer KA, et al. Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Lancet. 1996;348:90-93.
49. Mayeux R, Saunders AM, Shea S, et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer disease. The Alzheimer's disease centers consortium on apolipoprotein E and Alzheimer's disease. N Engl J Med. 1998;338:506-511.
50. Kirby KS. A new method for the isolation of deoxyribonucleic acids; evidence on the nature of bonds between deoxyribonucleic acid and protein. Biochem J. 1957;66:495-504.
51. Houlston RS, Snowden C, Green F, et al. Apolipoprotein (apo) E genotypes by polymerase chain reaction and allele-specific oligonucleotide probes: no detectable linkage disequilibrium between apo E and apo CII. Hum Genet. 1989;83:364-368.
52. Emi M, Wu LL, Robertson MA, et al. Genotyping and sequence analysis of apolipoprotein E isoforms. Genomics. 1988;3:373-379.
53. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 1988;16:1215.
54. Warnick GR, Mayfield C, Alberts JJ, et al. Gel isoelectric focusing methods for specific diagnosis of familial hyperlipoproteinemia type 3. Clin Chem. 1979;25:279-284.