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Rapid detection of M1S1 mutations by the protein truncation test
M Tsujikawa1, K Tsujikawa, N Maeda
1Department of Ophthalmology, Osaka University Medical School, Suita, Japan.
Purpose:
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.