Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology

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Abstract
The purpose of this study is to demonstrate the value of a multiplex amplification and readout system. The validation was done using as a model system the detection of deletions in nine possible dystrophin exons: 4, 8, 12, 17, 19, 44, 45, 48, and 51. The amplification system was gap ligase chain reaction, adapted to amplify selected regions of multiple exons simultaneously. The amplified products were read out with an immunochromatographic methodology, adapted from that used in the Abbott product line commercialized under the name Test Pack Plus. In each amplification, the β‐globin gene was incorporated and served as a procedural control. The complete process takes <3 hr from DNA sample to result. The procedure is therefore rapid and simple, as well as being potentially very cost effective. The combination of these two technologies is shown to be a useful tooi for the determination of deletions in the nine exons of the dystrophin gene. The results of a 100‐patient sample study showed concordance with cDNA and PCR in current use. Equivalent performance at two sites was shown.