Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids

Human Genetics

Volumn 101, Issue 3, 1997, Pages 263-270

  Graff, Caroline ^a   Eriksson, Anna ^a   Forsman, Kristina ^b   Sandgren, Ola ^b   Holmgren, Gösta ^b   Wadelius, Claes ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^b UMEÅ UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; MICROSATELLITE DNA;

ARTICLE; CHROMOSOME 11Q; DNA RECOMBINATION; FAMILY STUDY; GENE LOCATION; GENE MAPPING; HUMAN; HYBRID CELL; MAJOR CLINICAL STUDY; MOLECULAR CLONING; PRIORITY JOURNAL; RETINA MACULA VITELLIFORM DEGENERATION; SWEDEN;

CENTROMERE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; EYE DISEASES, HEREDITARY; FEMALE; GENETIC MARKERS; HUMANS; HYBRID CELLS; LOD SCORE; MACULAR DEGENERATION; MALE; MICROSATELLITE REPEATS; PEDIGREE; PENETRANCE; RECOMBINATION, GENETIC; SWEDEN; TELOMERE;

EID: 0031433105     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050627     Document Type: Article

References (35)

1. Berson EL (1992) Electrical phenomena in the retina. In: Hart WMJ (ed) Adler's physiology of the eye. Mosby Year Book, St Louis, pp 641-685
2. Blodi CF, Stone EM (1990) Best's vitelliform dystrophy. Ophthal Paediatr Genet 11:49-59
3. Boehnke M, Lange K, Cox DR (1991) Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet 49:1174-1188
4. Conneally PM, Edwards JH, Kidd KK, Lalouel J-M, Morton NE, Ott J, White R (1985) Report of the committee on methods of linkage analysis and reporting. (Eighth International Workshop of Human Gene Mapping) Cytogenet Cell Genet 40:356-359
5. Cooper PR, Nowak NJ, Higgins MJ, Simpson SA, Marquardt A, Stoehr H, Weber BHF, Gerhard DS, DeJong PJ, Shows TB (1997) A sequence-ready high resolution physical map of the Best macular dystrophy gene region in 11q12-q13. Genomics 41:185-192
6. Cottingham JRW, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252- 263
7. Cox DR (1995) Mapping with radiation hybrids. Genome Dig April:14-15
8. Cox DR, Burmeister M, Price ER, Kim S, Myers RM (1990) Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes, Science 250:245-250
9. Cross HE, Bard L (1974) Electro-oculography in Best's macular dystrophy. Am J Ophthalmol 77:46-50
10. Dib C, Fauré S, Fizames C, Samson D, Drouot D, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
11. Fain PR, Kort EN, Yousry C, James MR, Litt M (1996) A high resolution CEPH crossover mapping panel and integrated map of chromosome 11. Hum Mol Genet 5:1631-1636
12. Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E, Gustavson K-H, et al (1992) The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet 42:156-159
13. Frangieh GT, Green RG, Fine SL (1982) A histopathologic study of Best's macular dystrophy. Arch Ophthalmol 100:1115-1121
14. Graff C, Forsman K, Larsson C, Nordström S, Lind L, Johansson L, Sandgren O, et al (1994) Fine mapping of Best's macular dystrophy localises the gene in close proximity to but distinct from the D11S480/ROM1 loci. Genomics 24:425-434
15. Heyningen V van, Little PFR (1995) Report of the fourth international workshop on human chromosome 11 mapping 1994. Cytogenet Cell Genet 69:127-158
16. James MR, Richard CW, Schott JJ, Yousry C, Clark K, Bell J, Terwilliger JD, et al (1994) A radiation hybrid map of 506 STS markers spanning human chromosome 11. Nat Genet 8:70-76
17. Lange K, Boehnke M, Cox DR, Lunetta KL (1995) Statistical methods for polyploid radiation hybrid mapping. Genome Res 5:136-150
18. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
19. Nordström S (1974) Hereditary macular degeneration - a population survey in the county of Västerbotten, Sweden. Hereditas 78:41-62
20. Nordström S, Barkman Y (1976) Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden. Hereditas 84:163-176
21. O'Gorman S, Flaherty WA, Fishman GA, Berson EL (1988) Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol 106:1261-1268
22. Rosier M-F, Reguigne-Arnould I, Couillin P, Devignes M-D, Auffray C (1995) Regional assignment of 68 new human gene transcripts on chromosome 11. Genome Res 5:60-70
23. Schaffer AA, Gupta SK, Shriram K, Cottingham RWJ (1994) Avoiding recomputation in linkage analysis. Hum Hered 44:225-237
24. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
25. Shows TB (1996) Report of the fifth international workshop on human chromosome 11 mapping 1996. Cytogenet Cell Genet 74:1-56
26. Stöhr H, Weber BH (1995) A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. Hum Genet 95:219-222
27. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC (1992) Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1:246-250
28. Thorbum W, Nordström S (1978) EOG in a large family with hereditary macular degeneration (Best's vitelliform dystrophy). Identification of gene carriers. Acta Ophthalmol 56:455-464
29. Wadelius C, Graff C, Forsman K, Eriksson A, Sandgren O, Weissenbach J, Holmgren G, et al (1995) High-resolution meiotic mapping of the Best's macular dystrophy: the gene is flanked by UGB and FcεRI. Am J Hum Genet 57:1176 (abstract)
30. Weber BH, Stohr H, Walker D (1994a) A case of nonpenetrance in Best's disease [letter]. Am J Ophthalmol 118:398-399
31. Weber BHF, Vogt G, Pruett RC, Stöhr H, Felbor U (1994b) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 8:352-356
32. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
33. Weingeist TA, Kobrin JL, Watzke RC (1982) Histopathology of Best's macular dystrophy. Arch Ophthalmol 100:1108-1114
34. Weissenbach J, Gyapay G, Colette D, Vignal A, Morisette J, Millasseau P, Vaysseix G, et al (1992) A second-generation linkage 16 map of the human genome. Nature 359:794-801
35. Young RW (1987) Pathophysiology of age-related macular degeneration. Surv of Ophthalmol 31:291-306