Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene.
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.
Lynch
J R
JR
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Brown
J M
JM
Best
S
S
Jennings
M W
MW
Weatherall
D J
DJ
D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA