Tm. Ko et al., RAPID DETECTION OF CHINESE G-GAMMA-GAMMA-DELTA-BETA)O-THALASSEMIA BY POLYMERASE CHAIN-REACTION((A), Acta haematologica, 89(2), 1993, pp. 80-81
The Chinese G(gamma+)(A(gamma)deltabeta)-degrees-thalassemia is caused
by a deletion of more than 80 kilobases. It has a beta+-thalassemia p
henotype and should be differentiated from other mutations causing bet
a-thalassemia. Using polymerase chain reaction with three oligonucleot
ide primers bridging the breakpoints, the deletion can be detected eas
ily. The method is useful in the genetic counseling and prenatal diagn
osis of the at-risk families.