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L486F), was found located at nucleotide 1456 in econ 3 of MYOC gene [Figure 2].
1456C< T, in the exon 3 of MYOC gene would lead to the replacement of leucine by phenylalanine.
Ancak mutasyon bilindiginde dahi, ozellikle MYOC gen mutasyonlarinda izlendigi gibi, degisken ekspresivite ve penetrans eksikligi prenatal tanidaki en buyuk kisitliliktir.
Since no pathogenic mutation was present in the population, it was suggested that the present data showed non-involvement of MYOC mutations in the patients.
A more recent study comprising 1327 individuals and 146 families (the Barbados family study of Open Angle Glaucoma) did not find any linkage to the MYOC locus, but gave some evidence for chromosomes 1, 2, 9, 10, 11 and 14 (Nemesure et al.
According to our previous procedure, the P370L mutant MYOC gene was cloned into pDsRed2-N1 generating the pDsRed2-N1-mMYOC construct and transfected into COS7 cells.