Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene
Lynch JR., Brown JM., Best S., Jennings MW., Weatherall DJ.
The precise extent and breakpoints of a deletion of the beta-globin gene in a Thai patient have been determined using direct sequencing of a PCR product. This lesion is not detectable by current screening methods using PCR to analyze the beta-globin genes and is, therefore, a potential source of error in the diagnosis and prenatal detection of beta-thalassemia.