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May 1995

Molecular Genetics: An Increasingly Important Tool for Ophthalmology

Arch Ophthalmol. 1995;113(5):565. doi:10.1001/archopht.1995.01100050031023

THE PAST 20 YEARS have seen a major evolution in the role of molecular biology in medical research. Cloning of the β-globin gene in the late 1970s allowed DNA-level detection of mutations that cause hemoglobinopathies such as sickle-cell disease. This was accomplished through the use of techniques known as restriction enzyme digestion and Southern blotting. It was a process that took several days to carry out and was useful only in confirming the presence of mutations that were already known to exist. Nonetheless, it was an important step forward in the molecular diagnosis of inherited diseases. The development in 1985 of the polymerase chain reaction has revolutionized the way in which DNA analysis is performed in both research and clinical laboratories. Polymerase chain reaction is essentially an in vitro enzymatic amplification of a specific DNA segment, allowing for the synthesis of millions of copies of that DNA segment. The polymerase