Rapid detection of M1S1 mutations by the protein truncation test.
OBJECTIVE
To determine a method of rapid detection of M1S1 gene mutations in patients with gelatinous droplike corneal dystrophy.


METHODS
Forty-one patients from 35 families with gelatinous drop-like corneal dystrophy were studied. The entire coding region of the M1S1 gene was screened using the protein truncation test (PYT), with a polymerase chain reaction fragment amplified from genomic DNA serving as a template of in vitro translation.


RESULTS
Homozygous or compound heterozygous mutations were detected in all patients by a single reaction of the PTT. This result matched those obtained using the polymerase chain reaction-restriction fragment length polymorphism and direct sequence analyses. The Q118X mutation was present in 63 of the 70 alleles, accounting for 90% of the disease-associated chromosomes in Japanese patients.


CONCLUSIONS
The PTT is useful for detecting mutations in the M1S1 gene. This technique showed that the Q118X mutation is a founder mutation in Japanese patients with gelatinous droplike corneal dystrophy, and it reflects the linkage disequilibrium reported previously.
Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
M
M
Tsujikawa
K
K
Tsujikawa
N
N
Maeda
H
H
Watanabe
Y
Y
Inoue
Y
Y
Mashima
Y
Y
Shimomura
Y
Y
Tano
D000951:Antigens, Neoplasm / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D000071858:Epithelial Cell Adhesion Molecule; D005136:Eye Proteins / Q000235:genetics*; D005816:Genetic Complementation Test; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D000071858:Epithelial Cell Adhesion Molecule; D005136:Eye Proteins