Detection of Gene Deletions Using Multiplex Polymerase Chain Reactions

The polymerase chain reaction (PCR) is a rapid method for the amplification and analysis of DNA sequences, and has greatly simplified the identification of mutations leading to genetic diseases (1 –3 ). The exquisite sensitivity of this method can also be exploited to demonstrate the presence or absence of specific DNA sequences in a sample. This aspect of the procedure has led to the development of assays that can eliminate the need for Southern analysis when screening for DNA deletions that lead to genetic disease. Deletions account for a high frequency of the mutations that have been observed to cause a number of genetic diseases, such as Duchenne/Becker muscular dystrophy (DMD) (4 ), Lesch-Nyhan syndrome (5 ), and X-linked ichthyosis (6 ).