Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
OBJECTIVE
To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.


METHODS
The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single-strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly.


RESULTS
Although many sequence variants were found, none could be associated with disease.


CONCLUSIONS
The results show that PDE6C was not the site of the amutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients 'in the present study. The types of degeneration included those that predominantly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retinitis pigmentosa) or that have a predilection for disease in the macula (macular dystrophies).
Jules Stein Eye Institute, University of California Los Angeles School of Medicine, CA 90095-7008, USA.
Y Q
YQ
Gao
M
M
Danciger
R
R
Longmuir
N I
NI
Piriev
D Y
DY
Zhao
J R
JR
Heckenlively
G A
GA
Fishman
R G
RG
Weleber
S G
SG
Jacobson
E M
EM
Stone
D B
DB
Farber
D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D017931:DNA Primers / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017949:Retinal Cone Photoreceptor Cells / Q000201:enzymology*; D012162:Retinal Degeneration / Q000201:enzymology / Q000235:genetics*; D017422:Sequence Analysis, DNA
D017931:DNA Primers; D005136:Eye Proteins; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C096885:PDE6C protein, human