[Study on new techniques for genetic diagnosis of deletional alpha-thalassemia].
OBJECTIVE
To develop polymerase chain reaction (PCR) techniques for diagnosis of three commonest deletional alpha-thalassemia determinants in China: - -(SA), - alpha(3.7) and - alpha(4.2).


METHODS
Three groups of primers were designed and used to amplify the respective type of the deletional alpha-thalassemia under an optimized PCR condition, followed by agarose gel electrophoresis and EB-stainning.


RESULTS
Homozygous and heterozygotes, as well as double heterozygous of the 3 commonest deletions were successfully detected and diagnosed by the developed techniques. The results were identical to that from Southern Blot analysis. Forty two cases of alpha-thalassemia were diagnosed by these techniques.


CONCLUSIONS
The 3 PCR-based techniques established by our lab were accurate, simple, and well reproducible for gene diagnosis of the deletional alpha-thalassemia determinants.
Liu
J
J
Beijing Red Cross Chaoyang Hospital, Beijing 100020, China.
Zhou
J
J
Wang
L
L
Zhou
Y
Y
D017931:DNA Primers / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
D017931:DNA Primers