Haplotype analysis of hemochromatosis: Evaluation of different linkage- disequilibrium approaches and evolution of disease chromosomes

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1439-1447

  Ajioka, Richard S ^a,c   Jorde, Lynn B ^a   Gruen, Jeffrey R ^b   Yu, Ping ^a   Dimitrova, Diana ^a   Barrow, Jalene ^a   Radisky, Evette ^a   Edwards, Corwin Q ^a   Griffen, Linda M ^a   Kushner, James P ^a  

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

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HLA A ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOMAL LOCALIZATION; DNA POLYMORPHISM; EVOLUTION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HEMOCHROMATOSIS; HUMAN; MAJOR CLINICAL STUDY; PHYLOGENY; PRIORITY JOURNAL;

EID: 16944362620     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515466     Document Type: Article

References (50)

1. Abderrahim H, Sambucy J, Iris F, Ougen P, Bidault A, Chumakov I, Dausset J, et al (1994) Cloning the major histocompatibility complex in YACs. Genomics 23:520-527
2. Bengtsson BO, Thomson G (1981) Measuring the strength of associations between HLA antigens and diseases. Tissue Antigens 18:356-363
3. Carroll MC, Katzman P, Alicot EM, Koller BH, Geraghty DE, Orr HT, Strominger JL, et al (1987) Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes. Proc Natl Acad Sci USA 84: 8535-8539
4. Cartwright GE, Skolnick M, Amos DB, Edwards CQ, Kravitz K, Johnson A (1978) Inheritance of hemochromatosis: linkage to HLA. Trans Assoc Am Physicians 91:273-281
5. Crawford DHG, Powell LW, Leggett BA, Francis JS, Fletcher LM, Webb SI, Halliday JW, et al (1995) Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. Am J Hum Genet 57:362-367
6. Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui L, Antonarakis SE, Kazazian HH (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346: 366-369
7. Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH (1982) Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 78:196-207
8. Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29:311-322
9. Edwards CQ, Dadone MM, Skolnick MH, Kushner JP (1982) Hereditary hemochromatosis. Clin Haematol 11:411-435
10. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 318:1355-1362
11. Edwards CQ, Skolnick MH, Kushner JP (1981) Hereditary hemochromatosis: contribution of genetic analysis. Prog Hematol 12:43-71
12. Eisensmith RC, Okano Y, Dasovich M, Wang T, Guttler F, Lou H, Guldberg P, et al (1992) Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:1355-1365
13. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, et al (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408.
14. Felsenstein J (1993) PHYLIP (Phylogeny Inference Package), version 3.5c. Department of Genetics, University of Washington
15. Geraghty DE, Koller BH, Orr HT (1987) A human major histocompatibility complex class I gene that encodes a protein with a shortened cytoplasmic segment. Proc Natl Acad Sci USA 84:9145-9149
16. Geraghty DE, Pei J, Lipsky B, Hansen JA, Taillon-Miller P, Bronson SK, Chaplin DD (1992) Cloning and physical mapping of the HLA class I region spanning the HLA-E-to-HLA-F interval by using yeast artificial chromosomes. Proc Natl Acad Sci USA 89:2669-2673
17. Gruen JR, Goei VL, Summers KM, Capossela A, Powell L, Halliday J, Zoghbi H, et al (1992) Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE). Genomics 14:232-240
18. Harley HG, Brook JD, Floyd J, Rundle SA, Crow S, Walsh KV, Thibault M-C, et al (1991) Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet 49:68-75
19. Hedrick PW (1987) Gametic disequilibrium measure: proceed with caution. Genetics 117:331-341
20. Hegele RA, Plaetke R, Lalouel J-M (1990) Linkage disequilibrium between DNA markers at the low-density lipoprotein receptor gene. Genet Epidemiol 7:69-81
21. Hill WG, Robertson A (1968) Linkage disequilibrium in finite populations. Theor Appl Genet 38:226-231
22. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Morris PC, et al (1996) Haemochromatosis and HLA-A. Nat Genet 14:249-251
23. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW (1993) Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 53:347-352
24. Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, Lee SC, et al (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 56:428-433
25. Jorde LB (1995) Linkage disequilibrium as a gene mapping tool. Am J Hum Genet 56:11-14
26. Jorde LB, Watkins WS, Carlson M, Groden J, Albertsen H, Thliveris A, Leppert M (1994) Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am J Hum Genet 54:884-898
27. Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K (1993) Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet 53:1038-1050
28. Jouanolle AM, Gandon G, Jezeqeul P, Blayau M, Campion ML, Yaouanq J, Mosser J, et al (1996) Haemochromatosis and HLA-H. Nat Genet 14:251-252
29. Kaplan NL, Hill WG, Weir BS (1995) Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet 56:18-32
30. Koller BH, Geraghty DE, DeMars R, Duvick L, Rich SS, Orr HT (1989) Chromosomal organization of the human major histocompatibility complex class I gene family. J Exp Med 169:469-480
31. Lawrance SK, Smith CL, Srivastava R, Cantor CR, Weissman SM (1987) Megabase-scale mapping of the HLA gene complex by pulsed field gel electrophoresis. Science 235:1387-1390
32. Lewontin RC (1964) The interaction of selection and linkage. I. General considerations: heterotic models. Genetics 49:49-67
33. _ (1988) On measures of gametic disequilibrium. Genetics 120:849-852
34. Lipinski M, Hors J, Saleun JP, Saddi R, Passa P, Lafaurie S, Feingold N, et al (1978) Idiopathic hemochromatosis: linkage with HLA. Tissue Antigens 11:471-474
35. Martin M, Mandd D, Carrington M (1995) Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes. Hum Mol Genet 4:423-428
36. McLellan T, Jorde LB, Skolnick MH (1984) Genetic distances between the Utah Mormons and related populations. Am J Hum Genet 36:836-857
37. Petrukhin K, Fischer SG, Piratsu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, et al (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5:338-343
38. Raha-Chowdhury R, Bowen DJ, Burnett AK, Worwood M (1995a) Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. J Med Genet 32:446-452
39. Raha-Chowdhury R, Bowen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman D, Robson KJH, et al (1995b) New polymorphic microsatellite markers place the haemochromatosis gene telomeric of D6S105. Hum Mol Genet 4: 1869-1874
40. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, et al (1995) Genetic analysis of idiopathic torsion dystronia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159
41. Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17:332-334
42. Simon M, Bourel M, Genetet B, Fauchet R (1977) Idiopathic hemochromatosis: demonstration of recessive inheritance and early detection by family HLA typing. N Engl J Med 297:1017-1021
43. Simon M, LeMignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M (1987) A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 41:89-105
44. Smith M, Haigh J (1974) The hitch-hiking effect of a favourable gene. Genet Res 23:23-35
45. Sood AK, Pereira D, Weissman SM (1981) Isolation and partial nucleotide sequence of a cDNA clone for human histocompatibility HLA-B by use of an oligodeoxynucleotide primer. Proc Natl Acad Sci USA 78:616-620
46. Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56: 777-787
47. Watkins WS, Zenger R, O'Brien E, Nyman D, Eriksson AW, Renlund M, Jorde LB (1994) Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand factor region. Am J Hum Genet 55: 348-355
48. Whitehead Institute Database (1997) http://www-genome.wit .mit.edu
49. Worwood M, Raha-Chowdhury R, Dorak MT, Darke C, Bowen DJ, Burnett AK (1994) Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. Br J Haematol 86:863-866
50. Yaouanq J, Perichon M, Chorney M, Pontarotti P, Le Truet A, El Kahloun A, Mauvieux V, et al (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 54:252-263