C. Graff et al., CONFIRMATION OF LINKAGE TO 1Q21-31 IN A DANISH AUTOSOMAL-DOMINANT JUVENILE-ONSET GLAUCOMA FAMILY AND EVIDENCE OF GENETIC-HETEROGENEITY, Human genetics, 96(3), 1995, pp. 285-289
Autosomal dominant juvenile-onset open-angle glaucoma has been mapped
to 1q21-31 in a number of American families. Our study confirms linkag
e in a Danish five-generation dominant juvenile-onset glaucoma family
with a maximum two-point lod score of 6.67 at the D1S210 locus. Multip
oint linkage analysis in a nine-generation Swedish family with dominan
t 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-o
nset glaucoma.