Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
Φόρτωση...
Ημερομηνία
Συγγραφείς
Kitsos, G.
Eiberg, H.
Economou-Petersen, E.
Wirtz, M. K.
Kramer, P. L.
Aspiotis, M.
Tommerup, N.
Petersen, M. B.
Psilas, K.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Eur J Hum Genet
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
A locus for juvenile onset open angle glaucoma (OAG) has been assigned to chromosome 1q in families with autosomal dominant inheritance (GLC1A), due to mutations in the TIGR/MYOC gene. For adult onset OAG, called primary open angle glaucoma or POAG, five loci have so far been mapped to different chromosomes (GLC1B-GLC1F). Except for the GLC1B locus, the other POAG loci have so far been reported only in single large pedigrees. We studied a large family identified in Epirus, Greece, segregating POAG in an autosomal dominant fashion. Clinical findings included increased cup to disc ratio (mean 0.7), characteristic glaucomatous changes in the visual field, and intraocular pressure before treatment more than 21 mmHg (mean 31 mmHg), with age at diagnosis 33 years and older. Linkage analysis was performed between the disease phenotype and microsatellite DNA polymorphisms. Linkage was established with a group of DNA markers located on chromosome 3q, where the GLC1C locus has previously been described in one large Oregon pedigree. A maximal multipoint lod score of 3.88 was obtained at marker D3S1763 (penetrance 80%). This represents the second POAG family linked to the GLC1C locus on chromosome 3q, and haplotype analysis in the two families suggests an independent origin of the genetic defect.
Περιγραφή
Λέξεις-κλειδιά
Adult, Age Factors, Aged, Chromosomes, Human, Pair 1, *Chromosomes, Human, Pair 3, Cytoskeletal Proteins, Eye Proteins/genetics, Family Health, Female, *Genes, Dominant, *Genetic Linkage, Glaucoma/*genetics, Glaucoma, Open-Angle/*genetics, Glycoproteins/genetics, Greece, Humans, Lod Score, Male, Middle Aged, Models, Genetic, Pedigree, Polymorphism, Genetic
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/11436127
http://www.nature.com/ejhg/journal/v9/n6/pdf/5200645a.pdf
http://www.nature.com/ejhg/journal/v9/n6/pdf/5200645a.pdf
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής