Localization of the fourth locus (GLC1E) for adult-onset primary open- angle glaucoma to the 10p15-p14 region

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 641-652

  Sarfarazi, Mansoor ^a   Child, Anne ^b   Stoilova, Diliana ^a   Brice, Glen ^b   Desai, Trushna ^a   Trifan, Ovidiu C ^a   Poinoosawmy, Darmalingum ^c   Crick, R Pitts ^d  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 10P; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENETIC DISORDER; GENETIC LINKAGE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MALE; MEIOSIS; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL;

EID: 0031970713     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301767     Document Type: Article

References (54)

1. Adam MF, Belmouden A, Binisti P, Brezin AP, Valtot F, Bechetoille A, Dascotte JC, et al (1997) Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 6:2091-2097
2. Akarsu AN, Turacli ME, Aktan SG, Hossain A, Barsoum-Homsy M, Chevrette L, Sayli BS, et al (1996) A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 5:1199-1203
3. Avramopoulos D, Kitsos G, Economou-Petersen E, Grigoriadou M, Vassilopoulos D, Papageorgiou C, Psilas K, et al (1996) Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. J Med Genet 33: 1043-1044
4. Baez KA, McNaught AI, Dowler JG, Poinoosawmy D, Fitzke FW, Hitchings RA (1995) Motion detection threshold and field progression in normal tension glaucoma. Br J Ophthalmol 79:125-128
5. Bassam BJ, Caetano-Annoles G, Gresshoff PM (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 196:80-83
6. Béchtoille A, Bresson-Dumont H, Slim M (1997) Correlation of nerve fibre layer thickness as evaluated by the Heidelberg retinal tomograph and optic disc haemmorrhage location. In: Wale M, Heije A (eds) Perimetry update, 1996/97. Kuglar, Amsterdam, pp 157-161
7. Bennett SR, Alward WL, Folberg R (1989) An autosomal dominant form of low tension glaucoma. Am J Ophthalmol 108: 238-244
8. Crabb DP, Fitzke FW, McNaught AI, Hitchings RA (1997) A profile of the spatial dependence of pointwise sensitivity across the glaucomatous visual field. In: Wale M, Heije A (eds) Perimetry update, 1996/97. Kuglar, Amsterdam, pp 301-310
9. Crick RP (1974) Chronic glaucoma. A preventable cause of blindness. Lancet 1:205-207
10. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) The final version of the Généthon human genetic linkage map. Nature 380:152-154
11. Dreher AW, Tso PC, Weinreb RN (1991) Reproducibility of topographic measurements of the normal and glaucomatous optic nerve head with the laser tomographic scanner. Am J Ophthalmol 111:221-229
12. Dryja TP, Li T (1995) Molecular genetics of retinitis pigmentosa. Hum Mol Genet 4:1739-1743
13. Fasman KH, Cuticchia AJ, Kingsbury DT (1994) The GDB human genome data base anno 1994. Nucleic Acids Res 22: 3462-3469
14. Fitzke FW, Hitchings RA, Poinoosawmy D, McNaught AI, Crabb DP (1996) Analysis of visual field progression in glaucoma. Br J Ophthalmol 80:40-48
15. Francois J (1966) Genetics and primary open-angle glaucoma. Am J Ophthalmol 61:652-665
16. Gebhard W, Schreitmuller T, Hochstrasser K, Wachter E (1988) Complementary DNA and derived amino acid sequence of the precursor of one of the three protein components of the inter-alpha-trypsin inhibitor complex. FEBS Lett 229:63-67
17. Grosskreutz C, Netland PA (1994) Low tension glaucoma. Int Ophthalmol Clin 34: 173-185
18. Hitchings RA (1992) Low tension glaucoma: its place in modern glaucoma practice. Br J Ophthalmol 76:494-496
19. Hudson T, Stein L, Gerety S, Ma J, Castle AB, Silva J, Slonim DK, et al (1995) An STS-based map of the human genome. Science 270:1945-1954
20. Jay B, Peterson G (1970) The genetics of simple glaucoma. Trans Ophthalmol Soc UK 90:161-171
21. Johnson AT, Alward W, Sheffield V, Stone E (1996) Genetics and glaucoma. In: Ritch R, Shields M, Krupin T (eds) The glaucomas. Vol 2. Mosby, St Louis, pp 39-54
22. Johnson CA, Adams AJ, Casson EJ, Brandt JD (1993) Blue-on-yellow perimetry can predict the development of glaucomatous visual field loss. Arch Ophthalmol 111:645-650
23. Kobayashi H, Gotoh J, Hirashima Y, Terao T (1996) Inter-alpha-trypsin inhibitor bound to tumor cells is cleaved into the heavy chains and the light chain on the cell surface. J Biol Chem 271:11362-11367
24. Korth M, Horn F, Jonas J (1993) Utility of the color pattern-electroretinogram (PERG) in glaucoma. Graefes Arch Clin Exp Ophthalmol 231:84-89
25. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
26. Leske MC (1983) The epidemiology of open-angle glaucoma: a review. Am J Epidemiol 118:166-191
27. Lichter PR (1994) Genetic clues to glaucoma's secrets: the Jackson memorial lecture. Part 2. Am J Ophthal 117: 706-727
28. Moore D (1994) Preparation of genomic DNA. In: Ausubel RM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, et al (eds) Current protocols in molecular biology. Wiley, New York, sec 2.1.1-2.1.8
29. Netland PA, Wiggs JL, Dreyer EB (1993) Inheritance of glaucoma and genetic counseling of glaucoma patients. Int Ophthalmol Clin 33:101-120
30. Quigley HA (1993) Open-angle glaucoma. N Engl J Med 328: 1097-1106
31. _ (1996) The number of people with glaucoma worldwide. Br J Ophthalmol 80:389-393
32. Quigley HA, Vitale S (1997) Models of open angle glaucoma prevalence and incidence in the United States. Invest Ophthalmol Vis Sci 38:83-91
33. Raymond V (1997) Molecular genetics of glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet 60:272-277
34. Richards JE, Lichter PR, Herman S, Hauser ER, Hou YC, Johnson AT, Boehnke M (1996) Probable exclusion of GLC1A as a candidate gene in a family with middle-age-onset primary open-angle glaucoma. Ophthalmology 103: 1035-1040
35. Sarfarazi M (1997) Recent advances in molecular genetics of glaucomas. Hum Mol Genet 6:1667-1677
36. Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, et al (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30:171-177
37. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in genetic linkage analysis. Hum Hered 44:225-237
38. Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, Nichols BE (1993) Genetic linkage of familial open-angle glaucoma to chromosome 1q21-q31. Nat Genet 4:47-50
39. Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, et al (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genomewide linkage maps. Hum Mol Genet 4:1837-1844
40. Shields M, Ritch R, Krupin T (1996) Classification of the glaucomas. In: Ritch R, Shields M, Krupin T (eds) The glaucomas. Vol 2. Mosby, St Louis, pp 717-725
41. Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, et al (1998) Sequence analysis and homology modeling suggest that the primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P450. Am J Hum Genet 573-584 (in this issue)
42. Stoilov I, Akarsu AN, Sarfarazi M (1997) Identification of three truncating mutations in cytochrome P4501B1 (CYP1Bl) as the principal cause of primary congenital glaucoma (buphthalmos) families linked to the GLC3A locus on 2p21. Hum Mol Genet 6:641-647
43. Stoilova D, Child A, Brice G, Crick RP, Fleck BJ, Sarfarazi M (1997) Identification of a new TIGR mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet 18:109-118
44. Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M (1996) Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics 36:142-150
45. Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF, Nishimura D, et al (1997) Identification of a gene that causes primary open angle glaucoma. Science 275:668-670
46. Thylefors B, Negrel AD (1994) The global impact of glaucoma. Bull World Health Organ 72:323-326
47. Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J (1991) Racial variations in the prevalence of primary open angle glaucoma: the Baltimore Eye Survey. JAMA 266: 369-374
48. Trifan OC, Traboulsi EI, Stoilova D, Alozie I, Nguyen R, Raja S, Sarfarazi M. The third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol (in press)
49. Utah Marker Development Group (1995) A collection of ordered tetranucleotide-repeat markers from the human genome. Am J Hum Genet 57:619-628
50. Weinreb RN, Dreher AW, Bille JF (1989) Quantitative assessment of the optic nerve head with the laser tomographic scanner. Int Ophthalmol 13:25-29
51. Werner EB (1996) Normal-tension glaucoma. In: Ritch R, Shields M, KrupinT (eds) The glaucomas. Vol 2. Mosby, St Louis, pp 769-797
52. Wilson R, Matrone J (1996) Epidemiology of chronic open angle glaucoma. In: Ritch R, Shields M, Krupin T (eds) The glaucomas. Vol 2. Mosby, St Louis, pp 753-768
53. Wirtz MK, Samples JR, Kramer PL, Rust K, Topinka JR, Yount J, Koler RD, et al (1997) Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet 60:296-304
54. Yu TC, Falcao-Reis F, Spileers W, Arden GB (1991) Peripheral color contrast: a new screening test for preglaucomatous visual loss. Invest Ophthalmol Vis Sci 32:2779-2789