Genetics of population isolates

Clinical Genetics

Volumn 61, Issue 4, 2002, Pages 233-247

  Arcos Burgos, M ^a,b   Muenke, Maximilian ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSIDAD DE ANTIOQUIA   (Colombia)

Author keywords

Columbia; Complex disorder; Population genetics

Indexed keywords

COLOMBIA; CORRELATION ANALYSIS; ETHNIC GROUP; FINLAND; FOUNDER EFFECT; GENE ISOLATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC DRIFT; GENETIC TRAIT; GEOGRAPHIC DISTRIBUTION; HUMAN; INBREEDING; INHERITANCE; JEW; MEDICAL RECORD; PEDIGREE ANALYSIS; PHENOTYPE; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; PROGENY; SHORT SURVEY; THEORY;

CHRISTIANITY; COLOMBIA; FINLAND; GENETIC DISEASES, INBORN; GENETICS, POPULATION; HUMANS; UNITED STATES;

EID: 0036556373     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610401.x     Document Type: Short Survey

References (201)

1. Jorde LB, Watkins WS, Kere J, Nyman D, Eriksson AW. Gene mapping in isolated populations: new roles for old friends? Hum Hered 2000: 50: 57-65.
2. Peltonen L, Pekkarinen P, Aaltonen J. Messages from an isolate: lessons from the Finnish gene pool. Biol Chem Hoppe Seyler 1995: 376: 697-704.
3. Barbujani G, Bertorelle G. Genetics and the population history of Europe. Proc Natl Acad Sci USA 2001: 98: 22-25.
4. Bowcock AM, Kidd JR, Mountain JL, Hebert JM, Carotenuto L, Kidd KK, et al. Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci USA 1991: 88: 839-843.
5. Cavalli-Sforza LL. Genes, peoples and languages. Sci Am 1991: 265: 104-110.
6. Cavalli-Sforza LL, Feldman MW. Spatial subdivision of populations and estimates of genetic variation. Theor Popul Biol 1990: 37: 3-25.
7. Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999: 8: 1913-1923.
8. Peltonen L. Positional cloning of disease genes: advantages of genetic isolates. Hum Hered 2000: 50: 66-75.
9. Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet 2000: 1: 182-190.
10. Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 1999: 22: 139-144.
11. Kruglyak L. Genetic isolates: Separate but equal? Proc Natl Acad Sci USA 1999: 96: 1170-1172.
12. 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.
13. Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, Changyaleket B, 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.
14. Ober C, Cox NJ. The genetics of asthma. Mapping genes for complex traits in founder populations. Clin Exp Allergy 1998: 28 (Suppl. 1): 101-105.
15. McInnes LA, Service SK, Reus VI, Barnes G, Charlat O, Jawahar S, et al. Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population. Proc Natl Acad Sci USA 2001: 98: 11485-11490.
16. Escamilla MA, McInnes LA, Service SK, Spesny M, Reus VI, Molina J, et al. Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: a follow-up study on chromosome 18. Am J Med Genet 2001: 105: 207-213.
17. Myles-Worsley M, Coon H, Tiobech J, Collier J, Dale P, Wender P, et al. Genetic epidemiological study of schizophrenia in Palau, Micronesia: prevalence and familiality. Am J Med Genet 1999: 88: 4-10.
18. Hsueh WC, Mitchell BD, Schneider JL, Wagner MJ, Bell CJ, Nanthakumar E, et al. QTL influencing blood pressure maps to the region of PPH1 on chromosome 2q31-34 in Old Order Amish. Circulation 2000: 101: 2810-2816.
19. Hsueh WC, Mitchell BD, Aburomia R, Pollin T, Sakul H, Gelder EM, et al. Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study. Diabetes Care 2000: 23: 595-601.
20. Peltonen L. Identification of disease genes in genetic isolates. Methods 1996: 9: 129-135.
21. Lichtermann D, Ekelund J, Peltonen L, Jarvelin MR. Genetic architecture of temperament. Am J Psychiatry 2001: 158: 1339-1340.
22. Ekelund J, Hovatta I, Parker A, Paunio T, Varilo T, Martin R, et al. Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet 2001: 10: 1611-1617.
23. Peltonen L, McKusick VA. Genomics and medicine. Dissecting human disease in the postgenomic era. Science 2001: 291: 1224-1229.
24. McInnes LA, Service SK, Reus VI, Barnes G, Charlat O, Jawahar S, et al. Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population. Proc Natl Acad Sci USA 2000: 198: 11485-11490.
25. Cavalli-Sforza L, Menozzi P, Piazza A. The history and geography of human genes. Princeton, NJ: Princeton University Press, 1994.
26. Valenzuela CY. Block mating selection model in a random mating population. Rev Med Chil 1973: 101: 203-206. (In Spanish.)
27. Zei G, Guglielmino CR, Siri E, Moroni A, Cavalli-Sforza LL. Surnames as neutral alleles: observations in Sardinia. Hum Biol 1983: 55: 357-365.
28. Valenzuela CY, Harb Z. Socioeconomic assortative mating in Santiago, Chile: a demonstration using stochastic matrices of mother-child relationships applied to ABO blood groups. Soc Biol 1977: 24: 225-233.
29. Carmelli D, Cavalli-Sforza LL. The genetic origin of the Jews: a multivariate approach. Hum Biol 1979: 51: 41-61.
30. Kimura M. Genetic variability maintained in a finite population due to mutational production of neutral and nearly neutral isoalleles. Genet Res 1968: 11: 247-269.
31. Kimura M, Ota T. On the rate of molecular evolution. J Mol Evol 1971: 1: 1-17.
32. Kimura M. The neutral theory of molecular evolution: a review of recent evidence. Jpn J Genet 1991: 66: 367-386.
33. Williams TN, Maitland K, Bennett S, Ganczakowski M, Peto TE, Newbold CI, et al. High incidence of malaria in alpha-thalassaemic children. Nature 1996: 383: 522-525.
34. Zimmerman PA, Woolley I, Masinde GL, Miller SM, McNamara DT, Hazlett F, et al. Emergence of FY*A (null) in a Plasmodium vivax-endemic region of Papua New Guinea. Proc Natl Acad Sci USA 1999: 96: 13973-13977.
35. Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001: 27: 318-321.
36. Bianco M, Barbujani G, Danieli GA, Barrai I. Segregation analysis program for personal computers and microcomputers. Pathologica 1983: 75 (Suppl.): 124-127. (In Italian.)
37. Barbujani G. Geographic patterns. how to identify them and why. Hum Biol 2000: 72: 133-153.
38. Barbujani G, Magagni A, Minch E, Cavalli-Sforza LL. An apportionment of human DNA diversity. Proc Natl Acad Sci USA 1997: 94: 4516-4519.
39. Barbujani G. DNA variation and language affinities. Am J Hum Genet 1997: 61: 1011-1014.
40. Cavalli-Sforza LL, Bodmer WF. The genetics of human populations. San Francisco, CA: W. H. Freeman, 1971.
41. Schierup MH, Charlesworth D, Vekemans X. The effect of hitch-hiking on genes linked to a balanced polymorphism in a subdivided population. Genet Res 2000: 76: 63-73.
42. Charlesworth D, Wright SI. Breeding systems and genome evolution. Curr Opin Genet Dev 2001: 11: 685-690.
43. Wright S. The genetical structure of populations. Ann Eugen 1951: 15: 323-354.
44. Weir BS, Cockerham CC. Group inbreeding with two linked loci. Genetics 1969: 63: 711-742.
45. Cockerham CC. Variance of gene frequencies. Evolution 1969: 23: 72-84.
46. Weir BS. Intraspecific differentiation. In: Hillis DM, Moritz C, eds. Molecular systematics. Sunderland MA: Sinauer Associates, Inc., 1990: 373-410.
47. Cockerham CC, Weir BS. Estimation of inbreeding parameters in stratified populations. Ann Hum Genet 1986: 50: 271-281.
48. Charlesworth D. Plant self-incompatibility. The key to specificity. Curr Biol 1994: 4: 545-546.
49. Nordborg M. Linkage disequilibrium, gene trees and selfing: an ancestral recombination graph with partial self-fertilization. Genetics 2000: 154: 923-929.
50. Nevanlinna HH. The Finnish population structure. A genetic and genealogical study. Hereditas 1972: 7: 195-236.
51. de la Chapelle CA. Disease gene mapping in isolated human populations. the example of Finland. J Med Genet 1993: 30: 857-865.
52. Lahermo P, Sajantila A, Sistonen P, Lukka M, Aula P, Peltonen L, et al. The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet 1996: 58: 1309-1322.
53. Kittles RA, Perola M, Peltonen L, Bergen AW, Aragon RA, Virkkunen M, et al. Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 1998: 62: 1171-1179.
54. Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C, Paabo S. Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc Natl Acad Sci USA 1996: 93: 12035-12039.
55. Kittles RA, Bergen AW, Urbanek M, Virkkunen M, Linnoila M, Goldman D, et al. Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck. Am J Phys Anthropol 1999: 108: 381-399.
56. Ruhlen M. A guide to the world's languages. Stanford, CA: Stanford University Press, 1987.
57. Kittles RA, Long JC, Bergen AW, Eggert M, Virkkunen M, Linnoila M, et al. Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits. Proc Natl Acad Sci USA 1999: 96: 4204-4209.
58. Cavalli-Sforza LL, Piazza A. Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur J Hum Genet 1993: 1: 3-18.
59. Nei M, Roychoudhury AK. Evolutionary relationships of human populations on a global scale. Mol Biol Evol 1993: 10: 927-943.
60. Sanchez-Mazas A, Butler-Brunner E, Excoffier L, Ghanem N, Ben Salem M, Breguet G, Dard P, Pellegrini B, Tikkanen MJ, Langaney A. New data for AG haplotype frequencies in Caucasoid populations and selective neutrality of the AG polymorphism. Hum Biol 1994: 66: 27-48.
61. Sajantila A, Makkonen K, Ehnholm C, Peltonen L. DNA profiling in a genetically isolated population using three hypervariable DNA markers. Hum Hered 1992: 42: 372-379.
62. Peltonen L. Molecular background of the Finnish disease heritage. Ann Med 1997: 29: 553-556.
63. Peltonen L, Uusitalo A. Rare disease genes - lessons and challenges. Genome Res 1997: 7: 765-767.
64. Norio R. Diseases in Finland and Scandinavia. In: Rothschild H, ed. Biocultural aspects of disease. New York, NY Academic Press, 1981: 359-415.
65. Norio R, Nevanlinna HR, Perheentupa J. Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res 1973: 5: 109-141.
66. McKusick VA, Bias WB, Norum RA, Cross HE. Blood groups in two Amish demes. Humangenetik 1967: 5: 36-41.
67. McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet 2000: 24: 203-204.
68. Khoury MJ, Cohen BH, Diamond EL, Chase GA, McKusick VA. Inbreeding and prereproductive mortality in the Old Order Amish. I. Genealogic epidemiology of inbreeding. Am J Epidemiol 1987: 125: 453-461.
69. Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000: 24: 283-286.
70. LaBuda MC, Maldonado M, Marshall D, Otten K, Gerhard DS. A follow-up report of a genome search for affective disorder predisposition loci in the Old Order Amish. Am J Hum Genet 1996: 59: 1343-1362.
71. Kidd JR, Egeland JA, Pakstis AJ, Castiglione CM, Pletcher BA, Morton LA, et al. Searching for a major genetic locus for affective disorder in the Old Order Amish. J Psychiatr Res 1987: 21: 577-580.
72. Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G. Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature 1989: 342: 238-243.
73. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, et al. A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet 1996: 12: 431-435.
74. Hostetler JA. History and relevance of the Hutterite population for genetic studies. Am J Med Genet 1985: 22: 453-462.
75. Hostetler JA. Hutterite society. Baltimore, MD: Johns Hopkins University Press, 1974.
76. Nimgaonkar VL, Fujiwara TM, Dutta M, Wood J, Gentry K, Maendel S, et al. Low prevalence of psychoses among the Hutterites, an isolated religious community. Am J Psychiatry 2000: 157: 1065-1070.
77. Bleibtreu HK. Marriage and residence patterns in a genetic isolate. Cambridge, MA: PhD Thesis, Harvard, 1964.
78. Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, Changyaleket B et al. Genome-wide scarch for asthma susceptibilty loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet 1998: 7: 1393-1398
79. Torrey EF. Prevalence of psychosis among the Hutteries: a reanalysis of the 1950-53 study. Schizophr Res 1995; 16; 167-170
80. Newman DL, Abney M, McPeek MS, Ober C, Cox NJ. The importance of genealogy in determining genetic associations with complex traits. Am J Hum Genet. 2001; 69: 1146-1148
81. Ober C, Abney M, McPeek MS. The genetic dissection of complex traits in a founder population. Am J Hum Genet. 2001; 69; 1068-1079
82. Weitkamp LR, Ober C. Ancestral and recombinant 16-locus HLA haplotypes in the Hutterites. Immunogenetics 1999: 49: 491-497.
83. Ober CL, Martin AO, Simpson JL, Hauck WW, Amos DB, Kostyu DD, et al. Shared HLA antigens and reproductive performance among Hutterites. Am J Hum Genet 1983: 35: 994-1004.
84. Ober C. HLA and reproduction: lessons from studies in the Hutterites. Placenta 1995: 16: 569-577.
85. Kostyu DD, Ober CL, Dawson DV, Ghanayem M, Elias S, Martin AO. Genetic analysis of HLA in the U.S. Schmiedenleut Hutterites. Am J Hum Genet 1989: 45: 261-269.
86. Bryttan JM, Kostyu DD, Ober C, Elias S, Dawson DV. Analysis of HLA haplotype segregation in the Schmiedeleut Hutterites of South Dakota. Hum Hered 1994: 44: 181-190.
87. Bravo ML, Valenzuela CY, Arcos-Burgos OM. Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia). Gene Geogr 1996: 10: 11-17.
88. Bravo ML, Montoya JE, Arcos-Burgos M. Polymorphisms of classical markers and phenetic relationships of a Black community inhabiting Chocó State in Colombia. Homo 2000: 51: 132-140.
89. Mesa NR, Mondragon MC, Soto ID, Parra MV, Duque C, Ortiz-Barrientos D, et al. Autosomal, mtDNA, and Y-chromosome diversity in Amerinds: pre- and post-Columbian patterns of gene flow in South America. Am J Hum Genet 2000: 67: 1277-1286.
90. Parsons JJ. Antioqueño colonization in western Colombia. Berkeley, CA: University of California Press, 1949.
91. Bravo ML, Valenzuela CY, Arcos-Burgos OM. Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia). Gene Geogr 1996: 10: 11-17.
92. Jimenez I, Mora O, Lopez G, Jimenez ME, Zuluga L, Isaza R, et al. Idiopathic epilepsy with generalized tonic clonic seizures in Antioquia, Colombia: Is the joint Amerindian and Negroid racial admixture the cause of its high prevalence? Biol Res 1996: 29: 297-304.
93. Chakraborty R. Estimation of race admixture - a new method. Am J Phys Anthropol 1975: 42: 507-511.
94. Carvajal-Carmona LG, Soto ID, Pineda N, Ortiz-Barrientos D, Duque C, Ospina-Duque J, et al. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet 2000: 67: 1287-1295.
95. Lendon CL, Martinez A, Behrens IM, Kosik KS, Madrigal L, Norton J, et al. E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles. Hum Mutat 1997: 10: 186-195.
96. Lopera F, Ardilla A, Martinez A, Madrigal L, Arango-Viana JC, Lemere CA, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997: 277: 793-799.
97. Pineda-Trujillo N, Carvajal-Carmona LG, Buritica O, Moreno S, Uribe C, Pineda D, et al. A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. Neurosci Lett 2001: 298: 87-90.
98. Lopera F, Arboleda J, Moreno S, Almeida N, Cuartas M, Arcos-Burgos M. Clinical characteristics of hereditary cerebrovascular disease in a large family from Colombia. Rev Neurol 2000: 31: 901-907. (In Spanish.)
99. Lopera F, Rivera N, Arboleda J, Restrepo T, Arcos-Burgos M, et al. Analysis of complex segregation in a large family with hereditary cerebrovascular disease in Antioquia, Columbia. Rev Neurol 2001: 32: 222-225. (In Spanish).
100. Mora O, Jimenez I, Palacio LG, Jimenez M, Sanchez JL, Zuluaga L, et al. Mode of inheritance of idiopathic generalized non-myoclonic epilepsy in families investigated by studying members with idiopathic epilepsy with tonic-clonic crises on waking, Antioquia, Colombia. Rev Neurol 1999: 28: 768-771. (In Spanish.)
101. Lopera F, Palacio LG, Jimenez I, Villegas P, Puerta IC, Pineda D, et al. Discrimination between genetic factors in attention deficit. Rev Neurol 1999: 28: 660-664. (In Spanish.)
102. Duque-Castano A, Roldan MI, Arango-Viana JC, Arcos-Burgos M, Cubillo H, Lopera F. Neuropathological findings in early-onset Alzheimer's disease (E280a-PS1 mutation). Rev Neurol 1999: 29: 1-6. (In Spanish.)
103. Arcos-Burgos M, Palacio LG, Jimenez I, Pineda N, Mora O, Sanchez JL, et al. Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage. Rev Neurol 1998: 26: 50-52. (In Spanish.)
104. Arcos-Burgos M, Parodi E, Salgar M, Bedoya E, Builes JJ, Jaramillo D, et al. Vitiligo: complex segregation and linkage disequilibrium analyses to microsatellite loci spanning the HLA. Hum Genet 2002: 110: 334-342.
105. Chakraborty R, Smouse PE. Recombination of haplotypes leads to biased estimates of admixture proportions in human populations. Proc Natl Acad Sci USA 1988: 85: 3071-3074.
106. Stephens JC, Briscoe D, O'Brien SJ. Mapping by admixture linkage disequilibrium. in human populations: limits and guidelines. Am J Hum Genet 1994: 55: 809-824.
107. Chakraborty R, Weiss KM. Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proc Natl Acad Sci USA 1988: 85: 9119-9123.
108. McKusick VA. Genetic studies in American inbred populations with particular reference to the Old Order Amish. Isr J Med Sci 1973: 9: 1276-1284.
109. Steinberg AG, Bleibtreu HK, Kurczynski TW, Martin AO, Kurczynski EM. Genetic studies in an inbred human isolate. In: Crow JW, Neel JV, eds. Proceedings of the Third International Congress of Human Genetics. Baltimore, MD: Johns Hopkins University Press, 1967: 267-290.
110. Aguirre A, Vicario A, Mazon LI, Estomba A, Martinez dP, Arrieta PV, Perez EF, Lostao CM. Are the Basques a single and a unique population? Am J Hum Genet 1991: 49: 450-458
111. Bertorelle G, Bertranpetit J, Calafell F, Nasidze IS, Barbujani G. Do Basque- and Caucasian-speaking populations share non-Indo-European ancestors? Eur J Hum Genet 1995: 3: 256-263.
112. Wijsman E, Zei G, Moroni A, Cavalli-Sforza LL. Surnames in Sardinia. II. Computation of migration matrices from surname distributions in different periods. Ann Hum Genet 1984: 48: 65-78.
113. Angius A, Melis PM, Morelli L, Petretto E, Casu G, Maestrale GB, et al. Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits. Hum Genet 2001: 109: 198-209.
114. Bonne-Tamir B, Johnson MJ, Natali A, Wallace DC, Cavalli-Sforza LL. Human mitochondrial DNA types in two Israeli populations - a comparative study at the DNA level. Am J Hum Genet 1986: 38: 341-351.
115. Camp NJ, Neuhausen SL, Tiobech J, Polloi A, Coon H, Myles-Worsley M. Genomewide multipoint linkage analysis of seven extended palauan pedigrees with schizophrenia, by a Markov-chain Monte Carlo method. Am J Hum Genet 2001: 69: 1278-1289.
116. Coon H, Myles-Worsley M, Tiobech J, Hoff M, Rosenthal J, Bennett P, et al. Evidence for a chromosome 2p13-14 schizophrenia susceptibility locus in families from Palau, Micronesia. Mol Psychiatry 1998: 3: 521-527.
117. Suzuki K, Bustos T, Spritz RA. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet 1998: 63: 1102-1107.
118. Freimer NB, Reus VI, Escamilla M, Spesny M, Smith L, Service S, et al. An approach to investigating linkage for bipolar disorder using large Costa Rican pedigrees. Am J Med Genet 1996: 67: 254-263.
119. Aaltonen J, Horelli-Kuitunen N, Fan JB, Bjorses P, Perheentupa J, Myers R, et al. High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res 1997: 7: 820-829.
120. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, et al. Positional cloning of the APECED gene. Nat Genet 1997: 17: 393-398.
121. Ikonen E, Baumann M, Gron K, Syvanen AC, Enomaa N, Halila R, et al. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 1991: 10: 51-58.
122. Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet 1992: 1: 109-113.
123. Hoglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 1996: 14: 316-319.
124. Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell 1998: 1: 575-582.
125. Hastbacka J, de la CA, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994: 78: 1073-1087.
126. Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, et al. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med 1990: 172: 1865-1867.
127. Mitchell GA, Brody LC, Sipila I, Looney JE, Wong C, Engelhardt JF, Patel AS, Steel G, Obie C, Kaiser-Kupfer M. At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Proc Natl Acad Sci USA 1989: 86: 197-201.
128. Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995: 82: 959-968.
129. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995: 376: 584-587.
130. Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J. Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest 1992: 90: 160-164.
131. Pennacchio, LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996: 271: 1731-1734.
132. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997: 17: 164-170.
133. Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 2001: 104: 195-203.
134. Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 1998: 19: 286-288.
135. Avela K, Lipsanen-Nyman M, Idanheimo N, Seemanova E, Rosengren S, Makela TP, et al. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet 2000: 25: 298-301.
136. Pekkarinen P, Hovatta I, Hakola P, Jarvi O, Kestila M, Lenkkeri U, et al. Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. Am J Hum Genet 1998: 62: 362-372.
137. Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, et al. The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. Am J Hum Genet 1994: 54: 1042-1049.
138. Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, et al. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet 1999: 23: 462-465.
139. Aminoff M, Tahvanainen E, Grasbeck R, Weissenbach J, Broch H. Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 1995: 57: 824-831.
140. Kristiansen M, Aminoff M, de la Jacobsen CCA, Krahe R, Verroust PJ, Moestrup SK. Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood 2000: 96: 405-409.
141. Paassilta P, Lohiniva J, Goring HH, Perala M, Raina SS, Karppinen J, et al. Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 2001: 285: 1843-1849.140.
142. Joensuu T, Hamalainen R, Yaun B, Johnson C, Tegleberg S, Gasparini P, et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet. 2001; 69(4); 673-84
143. Parkarinen, L Sankija EM. Finnish heredity even in hearing disorders? Duodecim. 1998; 114(18); 1859-1864
144. Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la CA. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994: 7: 201-204.
145. Jarvela I, Sabri EN, Kokkonen J, Varilo T, Savilahti E, Peltonen L. Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am J Hum Genet 1998: 63: 1078-1085.
146. Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, et al. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 1995: 26: 290-293.
147. Visapaa I, Fellman V, Varilo T, Palotie A, Raivio KO, Peltonen L. Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. Am J Hum Genet 1998: 63: 1396-1403.
148. Visapaa I, Salonen R, Varilo T, Paavola P, Peltonen L. Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Am J Hum Genet 1999: 65: 1086-1095.
149. Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet 1995: 56: 1088-1095.
150. Makela-Bengs P, Jarvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipila M, et al. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet 1998: 63: 506-516.
151. Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 1995: 11: 213-215.
152. Cormand B, Avela K, Pihko H, Santavuori P, Talim B, de la Topaloglu HCA, et al. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet 1999: 64: 126-135.
153. Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, et al. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 1994: 91: 7267-7270.
154. Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, et al. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998: 62: 620-626.
155. Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001: 56: 869-877.
156. Paavola P, Helio T, Kiuru M, Halme L, Turunen U, Terwilliger J, et al. Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21. Eur J Hum Genet 2001: 9: 328-334.
157. Enattah NS, Sabi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I. Identification of a variant associated with adult-type hypolactasia. Nat Genet. 2002; 30(2); 233-237
158. Pajukanta P, Nuotio I, Terwilliger JD, Porkka KV, Ylitalo K, Pihlajamäki J. et al. Liinkage of familial combined hyperlipidaemia to chromosome Iq21-q23. Nat Genet. 1998; 18(4); 369-373
159. Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wilkström J, Holmdahl R. et al. A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet. 1996; 13(4); 477-480.
160. Hovatta I, Varilo T, Suvisaari J, Terwilliger JD, Ollikainen V, Arjarvi R. et al. Gemonewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J. Hum Genet. 1996; 65(4); 1114-1124.
161. Paunio T, Eklund J, Varilo T, Parker A, Hovatta I, Turunen JA, et al. Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet. 2001;10(26); 3037-3048.
162. Perola M, Öhman M, Hiekkalinna T, Leppävuori J, Pajukanta P, Wessman M et al. Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genomescans of five Finnish study groups. Am J Hum Genet. 2001; 69(1); 117-123.
163. Leppävuori J, Kujala U, Kinnunen J, Kaprio J, Nissilä M, Heliövaara M et al. Gemone scan for predisopsing loci for distal interphalageal joint osteoarthritis; evidence for a locus on 2q. Am J Hum Genet. 1999; 65(4); 1060-1067.
164. Cruz DN, Simon DB, Nelson-Williams C, Farhi A, Finberg K, Burleson L, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001: 37: 1458-1464.
165. Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000: 67: 814-821.
166. Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, et al. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 1999: 99: 1344-1347.
167. Biery BJ, Stein DE, Morton DH, Goodman SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 1996: 59: 1006-1011.
168. Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. Beta-sarcoglycan. characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995: 11: 257-265.
169. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 2000: 25: 79-82.
170. Lee MH, Gordon D, Ott J, Lu K, Ose L, Miettinen T, et al. Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. Eur J Hum Genet 2001: 9: 375-384.
171. Hsueh WC, Mitchell BD, Schneider JL, St Jean PL, Pollin TI, Ehm MG, et al. Genome-wide scan of obesity in the Old Order Amish. J Clin Endocrinol Metab 2001: 86: 1199-1205.
172. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, et al. A genomic-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet 1996; 12; 431-435.
173. Xu J, Meyers DA, Ober C, Blumenthal MN, Mellen B, Barnes KC, et al. Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma. Am J Hum Genet 2001: 68: 1437-1446.
174. Ober C, Tsalenko A, Parry R, Cox NJ. A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. Am J Hum Genet 2000: 67: 1154-1162.
175. Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet 1998: 63: 140-147.
176. Weiler T, Greenberg CR, Nylen E, Morgan K, Fujiwara TM,
177. Hegele RA, Brunt JH, Connelly PW. Genetic and biochemical factors associated with variation in blood pressure in a genetic isolate. Hypertension 1996: 27: 308-312.
178. Hegele RA, Brunt JH, Connelly PW. Genetic variation on chromosome 1 associated with variation in body fat distribution in men. Circulation 1995: 92: 1089-1093.
179. Boright AP, Connelly PW, Brunt JH, Scherer SW, Tsui LC, Hegele RA. Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites. Atherosclerosis 1998: 139: 131-136.
180. Arcos-Burgos M, Palacio G, Sanchez JL, Londono AC, Uribe CS, Jimenez M, et al. Multiple sclerosis: association to HLA DQalpha in a tropical population. Exp Clin Immunogenet 1999: 16: 131-138.
181. Sanchez JL, Palacio LG, Londono AC, Uribe CS, Jimenez ME, Villa LA, et al. Multiple sclerosis: epidemiological-genetic studies in the population of Antioquia, Colombia Disequilibrium HLA DQ Alpha. Rev Neurol 2000: 30: 170-173. (In Spanish.)
182. Anaya JM, Correa PA, Arcos-Burgos M, Mantilla RD. Rheumatoid arthritis association in Colombian population is restricted to HLA-DRB1*04 QRRAA alleles. Genes Immunity 2002: 3: 56-58.
183. Anaya JM, Correa PA, Mantilla RD, Arcos-Burgos M. Primary Sjogren syndrome: linkage disequilibrium analysis to TAP1, TAP2, HLA-DQB1, HLA-DRB1, IL-10.G and IL-10 loci in Colombian patients. Seminars Arthritis Rheumatism 2002: (In press).
184. Ospina-Duque J, Duque C, Carvajal-Carmona L, Ortiz-Barrientos D, Soto I, Pineda N, et al. An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia. Neurosci Lett 2000: 292: 199-202.
185. Ombra MN, Forabosco P, Casula S, Angius A, Maestrale G, Petretto E, et al. Identification of a new candidate locus for uric acid nephrolithiasis. Am J Hum Genet 2001: 68: 1119-1129.
186. Vitale E, Specchia C, Devoto M, Angius A, Rong S, Rocchi M, et al. Novel X-linked mental retardation syndrome with short stature maps to Xq24. Am J Med Genet 2001: 103: 1-8.
187. Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 2001: 69: 889-894.
188. Venanzi S, Malerba G, Galavotti R, Lauciello MC, Trabetti E, Zanoni G, et al. Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma. Clin Exp Allergy 2001: 31: 1220-1224.
189. Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 2001: 49: 362-366.
190. Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 2001: 68: 895-900
191. Zavattari P, Lampis R, Motzo C, Loddo M, Mulargia A, Whalen M, et al. Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1-DRB1 disease loci. Hum Mol Genet 2001: 10: 881-889.
192. Zavattari P, Lampis R, Mulargia A, Loddo M, Angius E, Todd JA, et al. Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia. Hum Mol Genet 2000: 9: 2967-2972.
193. Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, et al. Localisation of the gene responsible for Fechtner syndrome in a region < 600 Kb on 22q11-q13. Eur J Hum Genet 2000: 8: 895-899.
194. Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001: 29: 83-87.
195. Xu J, Zheng SL, Hawkins GA, Faith DA, Kelly B, Isaacs SD, et al. Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. Am J Hum Genet 2001: 69: 341-350.
196. Permutt MA, Wasson JC, Suarez BK, Lin J, Thomas J, Meyer J, et al. A genome scan for type 2 diabetes susceptibility loci in a genetically isolated population. Diabetes 2001: 50: 681-685.
197. Parvari R, Shnaider A, Basok A, Katchko L, Borochovich Z, Kanis A, et al. Clinical and genetic characterization of an autosomal dominant nephropathy. Am J Med Genet 2001: 99: 204-209.
198. Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001: 68: 753-758.
199. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001: 68: 598-605.
200. Morle L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, et al. A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet 2000: 67: 1592-1597.
201. Cohn DH, Shohat T, Yahav M, Ilan T, Rechavi G, King L, et al. A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21. Am J Hum Genet 2000: 67: 647-651.