A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

American Journal of Ophthalmology

Volumn 126, Issue 1, 1998, Pages 17-28

  Trifan, Ovidiu C ^a   Traboulsi, Elias I ^b   Stoilova, Diliana ^a   Alozie, Ihuoma ^a   Nguyen, Randall ^b   Raja, Sharath ^a,b,c   Sarfarazi, Mansoor ^b  

^a U   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 8Q; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENOTYPE; GLAUCOMA; HUMAN; INTRAOCULAR PRESSURE ABNORMALITY; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELATIVE;

AGED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; CHRONIC DISEASE; DNA; FEMALE; GENETIC MARKERS; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; OPTIC DISK; PEDIGREE; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; VISUAL FIELDS;

EID: 0031851299     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(98)00073-7     Document Type: Article

References (46)

1. Quigley H.A. Open-angle glaucoma. N Engl J Med. 328:1993;1097-1106.
2. Foster A., Johnson G.J. Magnitude and causes of blindness in the developing world. Int Ophthalmol. 14:1990;135-140.
3. Shields M., Ritch R., Krupin T. Classification of the glaucomas. Ritch R., Shields B.M., Krupin T. The glaucomas. 2:1996;717-725 Mosby, St Louis.
4. Shin D.H., Becker B., Kolker A.E. Family history in primary open-angle glaucoma. Arch Ophthalmol. 95:1977;598-600.
5. Miller R. Genetics of glaucoma and family studies. Trans Ophthalmol Soc UK. 98:1978;290-292.
6. Lichter P.R. Genetic clues to glaucoma's secrets Jackson memorial lecture, part 2 . Am J Ophthalmol. 117:1994;706-727.
7. Netland P.A., Wiggs J.L., Dreyer E.B. Inheritance of glaucoma and genetic counseling of glaucoma patients. Int Ophthalmol Clin. 33:1993;101-120.
8. Beiguelman B., Prado D. Recessive juvenile glaucoma. J Genet Hum. 12:1963;53-54.
9. Crombie A.L., Cullen J.F. Hereditary glaucoma occurrence in five generations in an Edinburgh family . Br J Ophthalmol. 48:1964;143-147.
10. Lee D.A., Brubaker R.F., Hrusca L. Hereditary glaucoma a report of two pedigrees . Ann Ophthalmol. 17:1985;739-741.
11. Bennett S.R., Alward W.L., Folberg R. An autosomal dominant form of low-tension glaucoma. Am J Ophthalmol. 108:1989;238-244.
12. Jay B., Peterson G. The genetics of simple glaucoma. Trans Ophthalmol Soc U K. 90:1970;161-171.
13. Goldwyn R., Waltman S.R., Becker B. Primary open-angle glaucoma in adolescent and young adults. Arch Ophthalmol. 84:1970;579-582.
14. Ellis O.H. The etiology, symptomatology and treatment of juvenile glaucoma. Am J Ophthalmol. 31:1948;1589-1596.
15. Johnson A.T., Drack A.V., Kwitek A.L., Cannon R.L., Stone E.M., Alward W.L.M. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology. 100:1993;524-529.
16. Vogel R., Crick R.P., Newson R.B., Shipley M., Blackmore H., Bulpitt C.J. Association between intraocular pressure and loss of visual field in chronic simple glaucoma. Br J Ophthalmol. 74:1990;3-6.
17. Jay J.L., Murdoch J.R. The rate of visual field loss in untreated primary open-angle glaucoma. Br J Ophthalmol. 77:1993;176-178.
18. Sheffield V.C., Stone E.M., Alward W.L.M., et al. Genetic linkage of familial open-angle glaucoma to chromosome 1q21-q31. Nature Genet. 4:1993;47-50.
19. Stone E.M., Fingert J.H., Alward W.L.M., et al. Identification of a gene that causes primary open-angle glaucoma. Science. 275:1997;668-670.
20. Stoilova D., Child A., Trifan O.C., Crick R.P., Coakes R.L., Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open-angle glaucoma to the 2cen-ql3 region. Genomics. 36:1996;142-150.
21. Wirtz M.K., Samples J.R., Kramer P.L., et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet. 60:1997;296-304.
22. Katz J., Tielsch J.M., Quigley H.A., Sommer A. Automated perimetry detects visual field loss before manual Goldmann perimetry. Ophthalmology. 102:1995;21-26.
23. Moore D. Preparation of genomic DNA. In: Ausubel RH, Brent R, Kingston RE, et al, editors. Current protocols in molecular biology. Sections 2.1.1-2.1.8. New York: Wiley, 1994.
24. A collection of ordered tetranucleotide-repeat markers from the human genome. Am J Hum Genet. 57:1995;619-628.
25. Gyapay G., Morissette J., Vignal A., et al. The 1993-94 Genethon human genetic linkage map. Nature Genet. 7:(suppl):1994;246-339.
26. Dib C., Faure S., Fizames C., et al. The final version of the Genethon human genetic linkage map. Nature. 380:1996;152-154.
27. Murray J.C., Buetow K.H., Weber J.L., et al. A comprehensive human linkage map with centimorgan density. Science. 265:1994;2049-2054.
28. Sheffield V.C., Weber J.L., Buetow K.H., et al. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genomewide linkage maps. Hum Mol Genet. 4:1995;1837-1844.
29. Gastier J.M., Pulido J.C., Sunden S., et al. Survey of trinucleotide repeats in the human genome assessment of their utility as genetic markers . Hum Mol Genet. 4:1995;1829-1836.
30. Bassam B.J., Caetano-Annoles G. Silver staining of DNA in polyacrylamide gels. Protocols Biotechnol. 42:1993;181-188.
31. Lathrop G.M., Lalouel J.M. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet. 36:1984;460-465.
32. Schaffer A.A., Gupta S.K., Shriram K., Cottingham R.W. Jr. Avoiding recomputation in genetic linkage analysis. Hum Hered. 44:1994;225-237.
33. Richards J.E., Lichter P.R., Boehnke M., et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet. 54:1994;62-70.
34. Meyer A., Valtot F., Bechetoille A., et al. Linkage between juvenile glaucoma and chromosome 1q in two French families. Comp Rend Acad Sci (Paris). 317:1994;565-570.
35. Wiggs J.L., Haines J.L., Paglinauan C., Fine A., Sporn C., Lou D. Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics. 21:1994;299-303.
36. Graff C., Urbak S.F., Jerndal T., Wadelius C. Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. Hum Genet. 96:1995;285-289.
37. Wiggs J.L., DelBono E.A., Schuman J.S., Hutchinson B.T., Walton D.S. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology. 102:1995;1782-1789.
38. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet. 6:1997;1667-1677.
39. Stoilova D., Child A., Brice G., Crick R.P., Fleck B.W., Sarfarazi M. Identification of a new "TIGR" mutation in a family with juvenile-onset primary open-angle glaucoma. Ophthalmol Genet. 18:1997;109-118.
40. Schuler G.D., Boguski M.S., Stewart E.A., et al. A gene map of the human genome. Science. 274:1996;540-546.
41. Marynen P., Zhang J., Cassiman J.J., Van den Berghe H., David G. Partial primary structure of the 48- and 90-kilodalton core proteins of cell surface-associated heparin sulfate proteoglycans of lung fibroblasts prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts . J Biol Chem. 264:1989;7017-7024.
42. Cizmeci-Smith G., Langan E., Youkey J., Showalter L.J., Carey D.J. Syndecan-4 is a primary-response gene induced by basic fibroblast growth factor and arterial injury in vascular smooth muscle cells. Arterioscler Thromb Vasc Biol. 17:1997;172-180.
43. Itano N., Oguri K., Nagayasu Y., et al. Phosphorylation of a membrane-intercalated proteoglycan, syndecan-2, expressed in a stroma-inducing clone from a mouse Lewis lung carcinoma. Biochem J. 315:1996;925-930.
44. Bansal R., Kumar M., Murray K., Pfeiffer S.E. Developmental and FGF-2-mediated regulation of syndecans (1-4) and glypican in oligodendrocytes. Mol Cell Neurosci. 7:1996;276-288.
45. Stoilov I., Akarsu A.N., Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 6:1997;641-647.
46. Sarfarazi M., Child A., Stoilova D., et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet. 62:1998;641-652.