Clinical Diagnostics and Research tools
DNA sequence analysis of alpha, beta or gamma globin genes is performed to definitively identify unknown point mutations or sequence variation.
DNA sequencing for globin gene mutations is performed on the Applied Biosystems Model 3130XL Genetic Analyzer. Genomic DNA samples submitted for sequencing and automated analysis undergo a cycle sequencing reaction. The fluorescently labeled products are separated from reaction reagents and analyzed by capillary electrophoresis. The DNA sequence is automatically analyzed by software. Typical read lengths are 600 - 650 bases for high quality DNA templates and primers. Sequencing results are reviewed manually for overall quality, and accuracy of the base call. Whenever necessary, the samples are either reanalyzed with a different base caller and the bases edited, or reloaded to improve the quality.
Example of DNA sequencing result: