The emerging importance of genetics in epidemiologic research. I. Basic concepts in human genetics and laboratory technology

Annals of Epidemiology

Volumn 9, Issue 1, 1999, Pages 1-16

  Ellsworth, Darrell L ^a   Manolio, Teri A ^a  

^a Div Epidemiol Clin Applic   (United States)

Author keywords

Epidemiology; Genetic Techniques; Hereditary Diseases; Human Genome; Molecular Genetics; Polymorphism

Indexed keywords

ARTICLE; CELL DIVISION; CELL IMMORTALIZATION; DNA SEQUENCE; GENE CLUSTER; GENETIC COUNSELING; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOME; LABORATORY TEST; METHODOLOGY; MOLECULAR GENETICS; PRIORITY JOURNAL; RESEARCH; VIRUS TRANSFORMATION;

DNA; EPIDEMIOLOGY; ETHICS; GENETIC MARKERS; GENETIC TECHNIQUES; GENETICS, MEDICAL; HUMANS; MOLECULAR BIOLOGY; POLYMORPHISM, GENETIC;

EID: 0032945446     PISSN: 10472797     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1047-2797(98)00047-7     Document Type: Article

References (53)

1. Sing C.F., Haviland M.B., Reilly S.L. Genetic architecture of common multifactorial diseases. Chadwick D., Cardew G. Variation in the Human Genome. 1996;211-232 John Wiley and Sons, Chichester, England.
2. Humphries S.E. DNA polymorphisms of the apolipoprotein genes - their use in the investigation of the genetic component of hyperlipidaemia and atherosclerosis. Atherosclerosis. 72:1988;89-108.
3. Jeunemaître X., Soubrier F., Kotelevtsev Y.V., Lifton R.P., Williams C.S., Charru A.et al. Molecular basis of human hypertension. Role of angiotensinogen Cell. 71:1992;169-180.
4. Green E.D., Cox D.R., Myers R.M. The Human Genome Project and its impact on the study of human disease. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The Metabolic and Molecular Bases of Inherited Disease. v. 1. 7:1995;401-436 McGraw-Hill, New York.
5. Francke U. Digitized and differentially shaded human chromosome idiograms for genomic applications. Cytogenet Cell Genet. 65:1994;206-218.
6. Verkerk A.J.M.H., Pieretti M., Sutcliffe J.S., Fu Y.-H., Kuhl D.P.A., Pizzuti A.et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 65:1991;905-914.
7. Royer-Pokora B., Kunkel L.M., Monaco A.P., Goff S.C., Newburger P.E., Baehner R.L.et al. Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature. 322:1986;32-38.
8. Schrock E., du Manoir S., Veldman T., Schoell B., Wienberg J., Ferguson-Smith M.A.et al. Multicolor spectral karyotyping of human chromosomes. Science. 273:1996;494-497.
9. Kluwe L., MacCollin M., Tatagiba M., Thomas S., Hazim W., Haase W.et al. Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. Am J Med Genet. 77:1998;228-233.
10. Ingram V.M. A specific chemical difference between the globins of normal human and sickle-cell anæmia hæmoglobin. Nature. 178:1956;792-794.
11. Weatherall D.J. The thalassemias. Stamatoyannopoulos G., Nienhuis A.W., Majerus P.W., Varmus H. The Molecular Basis of Blood Diseases. 2:1994;157-205 W. B. Saunders, Philadelphia.
12. Online Mendelian Inheritance in Man, OMIM™. Baltimore: Johns Hopkins University. http://www.ncbi.nlm.nih.gov (MIM Number 602421). Last edited 28 September 1998.
13. Kerem B., Rommens J.M., Buchanan J.A., Markiewicz D., Cox T.K., Chakravarti A.et al. Identification of the cystic fibrosis gene. Genetic analysis Science. 245:1989;1073-1080.
14. Online Mendelian Inheritance in Man, OMIM™. Baltimore: Johns Hopkins University. http://www.ncbi.nlm.nih.gov (MIM Number 143890). Last edited 1 October 1998.
15. Zannis V.I., Breslow J.L. Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification. Biochemistry. 20:1981;1033-1041.
16. Boerwinkle E., Hixson J.E. Genes and normal lipid variation. Curr Opin Lipidol. 1:1990;151-159.
17. Boerwinkle E., Utermann G. Simultaneous effects of the apolipoprotein E polymorphism on apolipoprotein E, apolipoprotein B, and cholesterol metabolism. Am J Hum Genet. 42:1988;104-112.
18. Wilson P.W.F., Schaefer E.J., Larson M.G., Ordovas J.M. Apolipoprotein E alleles and risk of coronary disease. Arterioscler Thromb Vasc Biol. 16:1996;1250-1255.
19. Davignon J. Apolipoprotein E polymorphism and atherosclerosis. Born G.V.R., Schwartz C.J. New Horizons in Coronary Heart Disease. 1993;5 Science Press Ltd, London, UK. 1-5.21.
20. Olson M.V. The Human Genome Project. Proc Natl Acad Sci USA. 90:1993;4338-4344.
21. Landegren U. Laboratory Protocols for Mutation Detection. 1996;Oxford University Press, Oxford, UK.
22. 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. 86:1989;2766-2770.
23. Grompe M. The rapid detection of unknown mutations in nucleic acids. Nat Genet. 5:1993;111-117.
24. Olson M.V. A time to sequence. Science. 270:1995;394-396.
25. Boushey C.J., Beresford S.A.A., Omenn G.S., Motulsky A.G. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA. 274:1995;1049-1057.
26. Frosst P., Blom H.J., Milos R., Goyette P., Sheppard C.A., Matthews R.G.et al. A candidate genetic risk factor for vascular disease. A common mutation in methylenetetrahydrofolate reductase Nat Genet. 10:1995;111-113.
27. Strittmatter W.J., Roses A.D. Apolipoprotein E and Alzheimer disease. Proc Natl Acad Sci USA. 92:1995;4725-4727.
28. de Andrade M., Thandi I., Brown S., Gotto A. Jr., Patsch W., Boerwinkle E. Relationship of the apolipoprotein E polymorphism with carotid artery atherosclerosis. Am J Hum Genet. 56:1995;1379-1390.
29. Nieminen M.S., Mattila K.J., Aalto-Setälä K., Kuusi T., Kontula K., Kauppinen-Mäkelin R.et al. Lipoproteins and their genetic variation in subjects with and without angiographically verified coronary artery disease. Arterioscler Thromb. 12:1992;58-69.
30. Hixson J.E., Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha I. J Lipid Res. 31:1990;545-548.
31. Landegren U., Kaiser R., Sanders J., Hood L. A ligase-mediated gene detection technique. Science. 241:1988;1077-1080.
32. Tobe V.O., Taylor S.L., Nickerson D.A. Single-well genotyping of diallelic sequence variations by a two-color ELISA-based oligonucleotide ligation assay. Nucleic Acids Res. 24:1996;3728-3732.
33. Chakraborty R., Fornage M., Gueguen R., Boerwinkle E. Population genetics of hypervariable loci. Analysis of PCR based VNTR polymorphism within a population Burke T., Dolf G., Jeffreys A.J., Wolff R. DNA Fingerprinting. Approaches and Applications:1991;127-143 Birkhauser Verlag, Basel, Switzerland.
34. Chakraborty R., Kidd K.K. The utility of DNA typing in forensic work. Science. 254:1991;1735-1739.
35. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A.et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:1996;152-154.
36. Richards R.I., Sutherland G.R. Simple repeat DNA is not replicated simply. Nat Genet. 6:1994;114-116.
37. Online Mendelian Inheritance in Man, OMIM™. Baltimore: Johns Hopkins University. http://www.ncbi.nlm.nih.gov (MIM Number 143100). Last edited 27 October 1998.
38. Aaltonen L.A., Peltomäki P., Leach F.S., Sistonen P., Pylkkänen L., Mecklin J.-P.et al. Clues to the pathogenesis of familial colorectal cancer. Science. 260:1993;812-816.
39. Hacia J.G., Brody L.C., Chee M.S., Fodor S.P.A., Collins F.S. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet. 14:1996;441-447.
40. Wang D.G., Fan J.-B., Siao C.-J., Berno A., Young P., Sapolsky R.et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science. 280:1998;1077-1082.
41. Steinberg K.K., Sanderlin K.C., Ou C.-Y., Hannon W.H., McQuillan G.M., Sampson E.J. DNA banking in epidemiologic studies. Epidemiol Rev. 19:1997;156-162.
42. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
43. Sambrook J., Fritsch E.F., Maniatis T. Molecular Cloning. A Laboratory Manual 2:1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
44. Gilbert J. Establishment of permanent cell lines by Epstein-Barr virus transformation. Dracopoli N.C., Haines J.L., Korf B.R., Moir D.T., Morton C.C., Seidman C.E.et al. Current Protocols in Human Genetics. v. 2. 1994;John Wiley and Sons, New York. 3H.1-A.3H.5.A.
45. Clayton E.W., Steinberg K.K., Khoury M.J., Thomson E., Andrews L., Kahn M.J.E.et al. Informed consent for genetic research on stored tissue samples. JAMA. 274:1995;1786-1792.
46. The American Society of Human Genetics ASHG report. Statement on informed consent for genetic research Am J Hum Genet. 59:1996;471-474.
47. Knoppers B.M., Laberge C.M. Research and stored tissues. Persons as sources, samples as persons? JAMA. 274:1995;1806-1807.
48. Durfy S.J. Ethics and the human genome project. Arch Pathol Lab Med. 117:1993;466-469.
49. National Heart Lung, Blood Institute Opportunities and Obstacles to Genetic Research in NHLBI Clinical Studies. 1997;National Institutes of Health, Bethesda, MD.
50. McGuire R.E., Daiger S.P., Green E.D. Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) gene. Genomics. 41:1997;481-484.
51. Benson DA, Boguski MS, Lipman DJ, Ostell J, Ouellette BF. GenBank. http://www.ncbi.nlm.nih.gov (Assession number M10151). Nucleic Acids Res. 1998;26:1-7.
52. Suzuki D.T., Griffiths A.J.F., Miller J.H., Lewontin R.C. An Introduction to Genetic Analysis. 3:1986;W.H. Freeman, New York.
53. Jorde L.B., Carey J.C., White R.L. Medical Genetics (accompanying slide set). 1995;Mosby-Year Book, St. Louis, MO.