Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees

Journal Article · Sun May 15 04:00:00 EDT 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1269· OSTI ID:6811148

Wiggs, J L; Paglinauan, C; Fine, A; Sporn, C; Lou, D ^[1]; Haines, J L ^[2]

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1. Tufts Univ. School of Medicine, Boston, MA (United States)
2. Harvard Medical School, Boston, MA (United States)

Glaucoma is a common disorder that results in irreversible damage to the optic nerve, causing absolute blindness. In most cases, the optic nerve is damaged by an elevation of the intraocular pressure that is the result of an abnormality in the normal drainage function of the trabecular meshwork. A family history of glaucoma is an important risk factor for the disease, suggesting that genetic defects predisposing to this condition are likely. Three pedigrees segregating an autosomal dominant juvenile glaucoma demonstrated significant linkage to a group of closely spaced markers on chromosome 1. These results confirm the initial mapping of this disease and suggest that this region on chromosome 1 contains an important locus for juvenile glaucoma. The authors describe recombination events that improve the localization of the responsible gene, reducing the size of the candidate region from 30 to 12 cM. 27 refs., 2 figs., 1 tab.

• OSTI ID: 6811148
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 21:2; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BODY AREAS
CHROMOSOMES
DISEASES
EYES
FACE
GENETIC MAPPING
HEAD
HEREDITARY DISEASES
HUMAN CHROMOSOME 1
HUMAN CHROMOSOMES
MAPPING
ORGANS
SENSE ORGANS