Rapid detection of Chinese G gamma+(A gamma delta beta)zero-thalassemia by polymerase chain reaction.
The Chinese G gamma+(A gamma delta beta)zero-thalassemia is caused by a deletion of more than 80 kilobases. It has a beta(+)-thalassemia phenotype and should be differentiated from other mutations causing beta-thalassemia. Using polymerase chain reaction with three oligonucleotide primers bridging the breakpoints, the deletion can be detected easily. The method is useful in the genetic counseling and prenatal diagnosis of the at-risk families.
Ko
T M
TM
Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei.
Tseng
L H
LH
Hsieh
F J
FJ
Chuang
S M
SM
Lee
T Y
TY
D000483:Alleles; D001483:Base Sequence; D002872:Chromosome Deletion; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction / Q000379:methods*; D013624:Taiwan; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics
D015345:Oligonucleotide Probes; D005914:Globins