D. Calugaru

introdus la 01.12.2010

 

Rezumat:
Bolile cu mostenire nonmendeliana, complexa, poligenica sau multifactoriala sunt definite ca dezordini ce nu prezinta mostenire mendeliana clasica, atribuita unei singure gene ci sunt determinbate de o combinatie a factorilor genetici si de mediu. Formele de glaucom cu mostenire multifactoriala includ glaucomul primar cu unghi deschis, glaucomul cu tensiune normala, glaucomul pseudoexfoliativ, glaucomul indus steroidic si uveita hipertensiva.
Perspectivele in genetica moleculara a glaucomului, admirabil sintetizate ĂŽn Proiectul GlaucoGENE al Societatii Europene de Glaucom cuprind studiul detailat al corelatiilor genotip-fenotip, identificarea de noi gene glaucomatoase, studiul interactiunilor gena gena si gena-mediu precum si dezvoltarea testelor genetice predictive.

Cuvinte cheie: ereditate multifactoriala, glaucoame cu unghi deschis, pseudoexfolitie

Abstract:
Diseases with nonmendelian,complex,poligenic or multifactorial heredity are defined as disorders that do not exhibit a classic mendelian inheritance attributable to a single gene but are determined by a number of genetic and environmental factors.Glaucoma forms having a multifactorial heredity encompass primary open-angle glaucoma, normal tension glaucoma, pseudoexfoliation glaucoma, steroid induced glaucoma and hypertensive uveitis
Future directions in molecular genetics of glaucoma, admirably synthesized within The European Glaucoma Society GlaucoGENE project, comprise reviewing the genotype-phenotype correlations, identification of the new glaucoma genes, investigating gene-environment interactions and gene-gene interactions as well as developing a mutation database that can be used for diagnostic and prognostic testing.

Key words: multifactorial inheritance, open-angle glaucomas, pseudoexfoliation