Para evaluar el diagnóstico molecular del GAAP en esta población, determinaron la prevalencia del TIGR/MYOC en 384 pacientes con glaucoma, 38 con hipertensión ocular y 18 familias afectadas (180 pacientes). Nueve variantes de secuencia codificadas fueron definidas como causantes de GAAP. Cuatro familias presentaban mutaciones diferentes unas de otras y 14 pacientes con glaucoma portaban seis mutaciones conocidas y dos nuevas (Ala427Thr y Arg126Trp). La frecuencia de estas mutaciones fue del 3,8% en los pacientes generales y del 22,2% en las familias afectadas.
Los investigadores destacan que el estudio de probabilidades sugieren que los franco-canadienses tienen grandes posibilidades de haber heredado estas mutaciones de los primeros colonizadores franceses. Concluyen que los resultados de su estudio, publicado en “Human Molecular Genetics”, señalan que el cribado genético de las mutaciones del TYGR/MYOC debería ofrecerse a las familias con antecedentes de glaucoma de ángulo abierto primario.
Webs Relacionadas
Université Laval
http://www.ulaval.ca/
Human Molecular Genetics
http://hmg.oupjournals.org/
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