Rapid detection of M1S1 mutations by the protein truncation test

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2466-8.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm / genetics*
  • Cell Adhesion Molecules / genetics*
  • Corneal Dystrophies, Hereditary / genetics*
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Epithelial Cell Adhesion Molecule
  • Eye Proteins / genetics*
  • Genetic Complementation Test
  • Humans
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA

Substances

  • Antigens, Neoplasm
  • Cell Adhesion Molecules
  • Epithelial Cell Adhesion Molecule
  • Eye Proteins