Filipino beta-thalassemia due to a large deletion: identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis.
The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin gene, and extends 3' beyond the beta-globin gene. In this report, we identify the 5' and 3' deletion endpoints and present a polymerase chain reaction (PCR) strategy for rapid DNA diagnosis of the Filipino beta-thalassemia deletion.
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
J S
JS
Waye
B
B
Eng
J A
JA
Hunt
D H
DH
Chui
D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010679:Philippines; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
D005914:Globins