Rapid carrier screening for beta-thalassemia by single-step allele-specific PCR and detection.
OBJECTIVE
This study aimed to evaluate a rapid molecular carrier screening strategy for beta-thalassemia.


METHODS
Allele-specific PCR was combined with amplicon detection by dissociation curve analysis of SYBR Green I fluorescence in a single step.


RESULTS
The presence of a particular mutation results in the amplification of a mutation-specific product and the dissociation temperature of each amplicon was highly reproducible.


CONCLUSIONS
Homogeneous allele-specific PCR amplification and detection of multiple beta-globin mutations can serve as a rapid and inexpensive carrier screening tool.
Quek
Dollyn Liying
DL
School of Life Sciences and Chemical Technology, Ngee Ann Polytechnic, Singapore 599489, Singapore.
Ng
Yen-Yek
YY
Wang
Wen
W
Tan
Arnold S C
AS
Tang-Lim
Guek-Im
GI
Ng
Ivy S L
IS
Law
Hai-Yang
HY
Chong
Samuel S
SS
D000483:Alleles; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*