Evolving methods in genetic epidemiology. II. Genetic linkage from an epidemiologic perspective

Epidemiologic Reviews

Volumn 19, Issue 1, 1997, Pages 24-32

  Risch, Neil ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE MAPPING; GENETIC DISORDER; GENETIC EPIDEMIOLOGY; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MATURITY ONSET DIABETES MELLITUS; METHODOLOGY; MULTIFACTORIAL INHERITANCE; PRIORITY JOURNAL; REVIEW;

EID: 0030684788     PISSN: 0193936X     EISSN: None     Source Type: Journal    
DOI: 10.1093/oxfordjournals.epirev.a017942     Document Type: Review

References (48)

1. Morton NE. Sequential tests for the detection of linkage. Am J Hum Gen 1955;7:277-318.
2. Elston RC, Lange K. The prior probability of autosomal linkage. Ann Hum Genet 1975;38:341-50.
3. Rao DC, Keats BJB, Morton NE, et al. Variability of human linkage data. Am J Hum Genet 1978;30:516-29.
4. Ott J. Analysis of human genetic linkage. Rev ed. Baltimore, MD: Johns Hopkins University Press, 1991.
5. Lathrop GM, Lalouel JM, Julier C, et al. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6.
6. Lander ES, Green P, Abrahamson J, et al. MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics 1987;1:174-81.
7. Lange K, Weeks DE, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. (Letter). Genet Epidemiol 1988;5:471-2.
8. Riccardi VM, Eichner JE. Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore, MD: Johns Hopkins University Press, 1986.
9. Barker D, Wright E, Nguyen K, et al. The gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987;236:1100-2.
10. Rouleau GA, Wertelicki W, Haines JL, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987;329:246-8.
11. Kunkel LM, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986; 322:73-7.
12. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet 1980;32: 223-35.
13. Morton NE. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 1956;8:80-96.
14. Palek J. Hereditary elliptocytosis and related disorders. Clin Haematol 1985;14:45-87.
15. Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 1990;46:222-8.
16. Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-6.
17. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-60.
18. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-7.
19. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250:1684-9.
20. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71.
21. Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994;265:2088-90.
22. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378: 789-92.
23. Rotter JI, Vadheim CM, Rimoin DL. Diabetes mellitus. In: King RA, Rotter JI, Motulsky AG, eds. The genetic basis of common diseases. New York, NY: Oxford University Press, 1992:413-81.
24. Rich SS. Mapping genes in diabetes: genetic epidemiological perspective. Diabetes 1990;39:1315-19.
25. Risch N. Assessing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet 1987;40:1-14.
26. Todd JA, Aitman TJ, Cornall RJ, et al. Genetic analysis of autoimmune type 1 diabetes mellitus in mice. Nature 1991; 351:542-7.
27. Fajans SS. Scope and heterogeneous nature of MODY. Diabetes Care 1990;13:49-64.
28. Bell GI, Xiang K, Newman MV, et al. Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 2q. Proc Natl Acad Sci U S A 1991;88:1484-8.
29. Froguel P, Vaxillaire M, Sun F, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 1992;356:162-4.
30. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 1996;384:455-8.
31. Yamagata K, Furuta H, Oda N, et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature 1996;384:458-60.
32. Schellenberg GD, Bird TD, Wijsman EM, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992;258:668-71.
33. St George-Hyslop P, Haines J, Rogaev E, et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet 1992;2:330-4.
34. Van Broeckhoven C, Backhovens H, Cruts M, et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet 1992;2:335-9.
35. Mullan M, Houlden H, Windelspecht M, et al. A locus for familial Alzheimer's disease on the long arm of chromosome 14, proximal to the α1-antichymotrypsin gene. Nat Genet 1992;2:340-2.
36. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-17.
37. Suarez BK, Rice J, Reich T. The generalized sib pair IBD distribution: its use in the detection of linkage. Ann Hum Genet 1978;42:87-94.
38. Blackwelder WC, Elston RC. A comparison of sib-pair linkage tests for disease susceptibility loci. Genet Epidemiol 1985; 2:85-97.
39. Weeks DE, Lange K. The affected-pedigree-member method of linkage analysis. Am J Hum Genet 1988;42:315-26.
40. Cantor RM, Rotter JI. Marker concordance in pairs of distant relatives: a new method of linkage analysis for common diseases. (Abstract). Am J Hum Genet 1987;41(suppl):A252.
41. Risch N. Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet 1990; 46:229-41.
42. Bishop DT, Williamson JA. The power of identity-by-state methods for linkage analysis. Am J Hum Genet 1990;46: 254-65.
43. Davies JL, Kawaguchi Y, Bennett ST, et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994;371:130-6.
44. Hashimoto L, Habita C, Beressi JP, et al. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 1994;371:161-4.
45. Sawcer S, Jones HB, Feakes R, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996;13:464-8.
46. The Multiple Sclerosis Genetics Group. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex. Nat Genet 1996;13:469-71.
47. Ebers GC, Kukay K, Bulman, DE, et al. A full genome search in multiple sclerosis. Nat Genet 1996;13:472-6.
48. Ellsworth DL, Hallman DM, Boerwinkle E. Impact of the Human Genome Project on epidemiologic research. Epidemiol Rev 1997;19:3-13.