Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31 (Journal article)

Avramopoulos, D./ Kitsos, G./ Economou-Petersen, E./ Grigoriadou, M./ Vassilopoulos, D./ Papageorgiou, C./ Psilas, K./ Petersen, M. B.

A locus for autosomal dominant juvenile onset primary open angle glaucoma (POAG) was recently assigned to chromosome region 1q21-q31. In the present study, a large Greek family with autosomal dominant adult onset POAG was investigated using microsatellite markers. Exclusion of linkage of the adult onset POAG gene to the region D1S194-D1S191 was obtained in this pedigree. Therefore, the data provide evidence that juvenile and adult onset POAG are genetically distinct disease entities.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Adult,Age of Onset,Chromosomes, Human, Pair 1/*genetics,Female,Genes, Dominant/genetics,*Genetic Linkage,Glaucoma, Open-Angle/*genetics,Greece,Humans,Male,Microsatellite Repeats,Pedigree
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/21741
ISSN: 0022-2593
Link: http://www.ncbi.nlm.nih.gov/pubmed/9004141
http://jmg.bmj.com/content/33/12/1043.full.pdf
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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