Gene mapping in isolated populations: New roles for old friends?

Human Heredity

Volumn 50, Issue 1, 2000, Pages 57-65

  Jorde, L B ^a,b   Watkins, W S ^a   Kere, J ^c   Nyman, D ^c   Eriksson, A W ^b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Population Research Unit   (Finland)

^c NONE

Author keywords

Gene mapping; Isolated populations; Linkage disequilibrium

Indexed keywords

NEUROFIBROMIN; VON WILLEBRAND FACTOR;

ARTICLE; DNA POLYMORPHISM; FINLAND; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; HUMAN; MALE; NORMAL HUMAN; POPULATION GENETICS;

CHROMOSOME MAPPING; ETHNIC GROUPS; FINLAND; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; NEUROFIBROMIN 1; POLYMORPHISM, GENETIC; PROTEINS; TURKEY; VON WILLEBRAND FACTOR;

EID: 0033992637     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022891     Document Type: Article

References (72)

1. Morton NE: Population structure and historical genetics of isolates. Isr J Med Sci 1973;9: 1299-1307.
2. Roberts DF: Genetic effects of population size reduction. Nature 1968;220:1084-1088.
3. Neel JV: The population structure of an Amerindian tribe, the Yanomama. Annu Rev Genet 1978;12:365-413.
4. Eriksson AW, Forsius H, Nevanlinna HR, Workman PL, Norio RK (eds): Population Structure and Genetic Disorders. New York, Academic Press, 1980.
5. Morgan K, Holmes TM, Schlaut J, Marchuk L, Kovithavongs T, Pazderka F, Dossetor JB: Genetic variability of HLA in the Dariusleut Hutterites. A comparative genetic analysis of the Hutterites, the Amish, and other selected Caucasian populations. Am J Hum Genet 1980;32: 246-257.
6. Bonné B: Genes and phenotypes in the Samaritan isolate. Am J Phys Anthropol 1966;24:1-19.
7. Jorde LB, Eriksson AW, Morgan K, Workman PL: The genetic structure of Iceland. Hum Hered 1982;32:1-7.
8. Morton NE, Lew R, Hussels IE, Little GF: Pingelap and Mokil atolls: Historical genetics. Am J Hum Genet 1972;24:277-289.
9. McKusick VA (ed): Medical Genetic Studies of the Amish: Selected Papers. Baltimore, Johns Hopkins University Press, 1978.
10. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A: Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations. Hum Mol Genet 1997;6:2163-2172.
11. Klinger K, Horn GT, Stanislovitis P, Fujiwara TM, Morgan K: Cystic fibrosis mutations in the Hutterite brethren. Am J Hum Genet 1990; 46:983-987.
12. Cavalli-Sforza LL, Wilson AC, Cantor CR, Cook-Deegan RM, King M-C: Call for a worldwide survey of human genetic diversity: A vanishing opportunity for the Human Genome Project. Genomics 1991;11:490-491.
13. Zamel N, McClean PA, Sandell PR, Siminovitch KA, Slutsky AS: Asthma on Tristan da Cunha: Looking for the genetic link. The University of Toronto Genetics of Asthma Research Group. Am J Respir Crit Care Med 1996;153:1902-1906.
14. Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, Changyaleket B, Gidley H, Kurtz B, Lee J, Nance M, et al: Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet 1998;7:1393-1398.
15. Myles-Worsley M, Coon H, Tiobech J, Collier J, Dale P, Wender P, Reimherr F, Polloi A, Byerley W: Genetic epidemiological study of schizophrenia in Palau, Micronesia: Prevalence and familiality. Am J Med Genet 1999; 88:4-10.
16. Bonné-Tamir B, Nystuen A, Seroussi E, Kalinsky H. Kwitek-Black AE, Korostishevsky M, Adato A, Sheffield VC: Usher syndrome in the Samaritans: Strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. Am J Phys Anthropol 1997;104:193-200.
17. Enserink M: Iceland OKs private health databank. Science 1999;283:13.
18. Sheffield VC, Stone EM, Carmi R: Use of isolated inbred human populations for identification of disease genes. Trends Genet 1998;14: 391-396.
19. Schork NJ: Genetics of complex disease: Approaches, problems, and solutions. Am J Respir Crit Care Med 1997;156:S103-S109.
20. Lander ES, Schork NJ: Genetic dissection of complex traits. Science 1994;265:2037-2048.
21. Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 1998;19:233-240.
22. Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
23. Wang DG, Fan J-B, Siao C-J, Berno A, Young P, Sapolsky R, Ghandour G, Perkins N, Winchester E, Spencer J, et al: Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998;280:1077-1082.
24. Lonjou C. Collins A, Motion NE: Allelic association between marker loci. Proc Natl Acad Sci USA 1999;96:1621-1626.
25. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravarti A: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-1266.
26. de la Chapelle A, Wright FA: Linkage disequilibrium mapping in isolated populations: The example of Finland revisited. Proc Natl Acad Sci USA 1998;95:12416-12423.
27. von Willebrand EA: Über hereditäre Pseudohämophilie. Acta Med Scand 1931;76:521-550.
28. Lehmann W, Forsius HR, Eriksson AW: Von Willebrand-Jürgens syndrome on Åland; in Eriksson AW, Forsius H, Nevanlinna HR (eds): Population Structure and Genetic Disorders. New York, Academic Press, 1980, pp 537-545.
29. Watkins WS, Zenger R, O'Brien E, Nyman D, Eriksson E. Renlund M, Jorde LB: Linkage disequilibrium patterns vary with chromosomal location: A case study from the von Willebrand factor region. Am J Hum Genet 1994;55:348-355.
30. Purandare SM, Cawthon R, Nelson LM, Sawada S, Watkins WS, Ward K, Jorde LB, Viskochil DH: Genotyping of PCR-based polymorphisms and linkage disequilibrium analysis at the NF1 locus. Am J Hum Genet 1996;59: 159-166.
31. Weir BS, Cockerham CC: Complete characterization of disequilibrium at two loci; in Feldman MW (ed): Mathematical Evolutionary Theory. Princeton, Princeton University Press, 1989, pp 86-109.
32. Schneider S, Kueffer J-M, Roesslie D, Excoffier L: Arlequin ver. 1.1: A software for population genetic data analysis. Geneva, Genetics and Biometry Laboratory, University of Geneva, 1997.
33. Excoffier L, Slatkin M: Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995;12: 921-927.
34. Weir BS, Cockerham CC: Testing hypotheses about linkage disequilibrium with multiple alleles. Genetics 1978;88:633-642.
35. Jorde LB: Linkage disequilibrium as a gene mapping tool. Am J Hum Genet 1995;56:11-14.
36. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L: Identification of the cystic fibrosis gene: Genetic analysis. Science 1989;245: 1073-1080.
37. MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R, et al: The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet 1992;1:99-103.
38. Bowcock AM. Tomfohrde J, Weisenbach J, Bonné-Tamir B, St. George-Hyslop P. Giagheddu M, Cavalli-Sforza LL, Farrer LA: Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. Am J Hum Genet 1994;54:79-87.
39. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, et al: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
40. Devlin B, Risch N, Roeder K: Disequilibrium mapping: Composite likelihood for pairwise disequilibrium. Genomics 1996;36:1-16.
41. Terwilliger JD: A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 1995;56:777-787.
42. Terwilliger JD, Zöllner S, Laan M, Pääbo S: Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion. Hum Hered 1998;48:138-154.
43. Durham LK, Feingold E: Genome scanning for segments shared identical by descent among distant relatives in isolated populations. Am J Hum Genet 1997;61:830-842.
44. Kaplan NL, Hill WG, Weir BS: Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet 1995; 56:18-32.
45. Xiong M, Guo S-W: Fine-scale genetic mapping based on linkage disequilibrium: Theory and applications. Am J Hum Genet 1997;60: 1513-1531.
46. Spielman RS, Ewens WJ: The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996;59: 983-989.
47. Collins A, Morton NE: Mapping a disease locus by allelic association. Proc Natl Acad Sci USA 1998;95:1741-1745.
48. Lazzaroni LC: Linkage disequilibrium and gene mapping: An empirical least-squares approach. Am J Hum Genet 1998;62:159-170.
49. Rannala B, Slatkin M: Likelihood analysis of disequilibrium mapping, and related problems. Am J Hum Genet 1998;62:459-473.
50. Spielman RS, Ewens WJ: A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450-458.
51. Peltonen L, Pekkarinen P, Aaltonen J: Messages from an isolate: Lessons from the Finnish gene pool. Biol Chem Hoppe-Seyler 1995;376: 697-704.
52. de la Chapelle A: Disease gene mapping in isolated human populations: The example of Finland. J Med Genet 1993;30:857-865.
53. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakfield X. Bressman S: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-159.
54. Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K: Linkage disequilibrium in the neurofibromatosis I region: Implications for gene mapping. Am J Hum Genet 1993;53: 1038-1050.
55. Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Kidd JR, Cheung K, Bonné-Tamir B, Santachiara-Benerecetti AS, Moral P, Krings M: Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science 1996;271:1380-1387.
56. Kunst CG, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holden JJA, Torroni A, Nelson DL, Warren ST: FMRI in global populations. Am J Hum Genet 1996;58: 513-522.
57. Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonné-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK: A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am J Hum Genet 1998;62: 1389-1402.
58. Kidd KK, Morar B, Castigione CM, Zhao H, Pakstis AJ, Speed WC, Bonné-Tamir B, Lu RB, Goldman D, Lee C, Nam YS, Grandy DK, Jenkins T, Kidd JR: A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Hum Genet 1998;103:211-227.
59. Jorde LB, Bamshad M, Rogers AR: Using mitochondrial and nuclear DNA markers to reconstruct human evolution. Bioessays 1998;20: 126-136.
60. Kittles RA, Perola M, Peltonen L, Bergen AW, Aragon RA, Virkkunen M, Linnoila M, Goldman D, Long JC: Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 1998;62:1171-1179.
61. Jorde LB, Pitkänen KJ, O'Brien E, Eriksson AW: Consanguinity and genetic disease in Finland's Swedish-speaking minority; in Bittles AH, Roberts DF (eds): Minority Populations: Genetics, Demography, and Health, London, Macmillan, 1992, pp 14-34.
62. Peterson AC, Di Rienzo A, Lehesjoki A-E, de la Chapelle A, Slatkin M, Freimer NB: The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet 1995;4: 887-894.
63. Eriksson AW, Eskola MR, Workman PL, Morton NE: Population studies on the Åland Islands. II. Historical population structure: Inference from bioassay of kinship and migration. Hum Hered 1973;23:511-534.
64. Jorde LB, Eriksson AW, Workman PL: Genetic microevolution in the Åland Islands, Finland; in Crawford MH, Mielke JH (eds): Current Developments in Anthropological Genetics. New York, Plenum Press, 1982, pp 333-365, vol 2.
65. O'Brien E, Jorde LB, Rönnlöf B, Fellman JO, Eriksson AW: Founder effect and genetic disease in Sottunga, Finland. Am J Phys Anthropol 1988;77:335-346.
66. O'Brien E, Kerber RA, Jorde LB, Rogers AR: Founder effect: An assessment of variation in genetic contribution among founders. Hum Biol 1994;66:185-204.
67. Kruglyak L: Genetic isolates: Separate but equal? Proc Natl Acad Sci USA 1999;96:1170-1172.
68. Lonjou C, Collins A, Ajioka RS, Jorde LB, Kushner JP, Morton NE: Allelic association under map error and recombinational heterogeneity: A tale of two sites. Proc Natl Acad Sci USA 1998;95:11366-11370.
69. Lander ES, Botstein D: Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 1987;236: 1567-1570.
70. Morton NE, Collins A: Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci USA 1998;95:11389-11393.
71. Laan M, Pääbo S: Demographic history and linkage disequilibrium in human populations. Nat Genet 1997;17:435-438.
72. Slatkin M: Linkage disequilibrium in growing and stable populations. Genetics 1994;137: 331-336.