Abstract
Autosomal dominant juvenile-onset open-angle glaucoma has been mapped to 1q21-31 in a number of American families. Our study confirms linkage in a Danish five-generation dominant juvenile-onset glaucoma family with a maximum two-point lod score of 6.67 at the D1S210 locus. Multipoint linkage analysis in a nine-generation Swedish family with dominant juvenile-onset glaucoma and iris hypoplasia excludes linkage to the region of approximately 18 cM between loci D1S104 and D1S218, shown to contain the previously mapped glaucoma gene. This study thus provides support for genetic heterogeneity with respect to dominant juvenile-onset glaucoma.
Similar content being viewed by others
References
Berg F (1932) Erbliches jugendliches Glaukom. Acta Ophthalmol 10: 568–587
Chotai J (1984) On the lod score method in linkage analysis. Ann Hum Genet 48: 359–378
Cottingham JRW, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252–263
Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E, Gustavson K-H, Wadelius C, Holmgren G (1992) The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet 42: 156–159
Gyapay G, Morisette J, Vignal A, Dib C, Fizamex C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993–94 Généthon human genetic linkage map. Nature Genet 7: 246–339
Jerndal T (1970) Goniodysgenesis and hereditary juvenile glaucoma: a clinical study. Acta Ophthalmol 48 (Suppl 107): 1–100
Jerndal T (1983) Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma. Am J Hum Genet 35: 645–651
Jerndal T, Hansson HA, Bill A (1978) Goniodysgenesis. A new perspective on glaucoma, 2nd edn. Scriptor, Copenhagen
Johnson AT, Drack AV, Kwitek BS, Cannon RL, Stone EM, Alward WLM (1993) Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 100: 524–529
Kluyskens J (1950) Le glaucome congénital. Bull Soc Belge Ophthalmol 94: 3
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36: 460–465
Lichter PR (1994) Genetic clues to glaucoma's secrets. The L. Edward Jackson memorial lecture. Part 2. Am J Ophthalmol 117: 706–727
Martin JP, Zorab EC (1974) Familial glaucoma in nine generations of a South Hampshire family. Br J Ophthalmol 58: 536–542
Richards JE, Lichter PR, Boehnke M, Uro JLA, Torrez D, Wong D, Johnson AT (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet 54: 62–70
Ritch R, Shields MB, Krupin T (1989) The glaucomas, vols. I and II. Mosby, St Louis, Mo.
Schaffer AA, Gupta S K, Shriram K, Cottingham RWJ (1994) Avoiding recomputation in linkage analysis. Hum Hered 44: 225–237
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. Nature Genet 4: 47–50
Weatherhill JR, Hart CT (1969) Familial hypoplasia of the iris troma associated with glaucoma. Br J Ophthalmol 53: 433–438
Wiggs JL, Haines JL, Paglinauan C, Fine A, Sporn C, Lou D (1994) Genetic lof autosomal dominant juvenile glaucoma to 1q21q31 in three affected pedigrees. Genomics 21: 299–303
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Graff, C., Urbak, S.F., Jerndal, T. et al. Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. Hum Genet 96, 285–289 (1995). https://doi.org/10.1007/BF00210408
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00210408