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Rapid Detection of M1S1 Mutations by the Protein Truncation Test

¹ From the Department of Ophthalmology, Osaka University Medical School; the ² Department of Ophthalmology, Keio University School of Medicine; and the ³ Department of Ophthalmology, Kinki University School of Medicine, 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 (PTT), 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.

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