[Diagnosis of several common alpha-thalassemia genotypes by multiplex fluorescence polymerase chain reaction].
OBJECTIVE
To develop an approach to a quick and accurate genetic diagnosis.


METHODS
Byusing fluorescence primer, the fragments of alpha 1 and alpha 2-globin gene and internal control: beta-actin were amplified and then the PCR products were analyzed with Perkin Elmer ABI PRISMTM 377DNA Sequencer. Linkage analysis was also performed with (CA)n at the upstream of alpha 2-globin gene. The two methods were compared.


RESULTS
The fluorescence polymerase chain reaction and the linkage analysis gave the same result, and it was easy to distinguish different genotypes.


CONCLUSIONS
The multipilx fluorescence polymerase chain reaction is simple, sensitive and feasible for rapid diagnosis of alpha thalassemia, and may be utilized for the genetic diagnosis of the pre-transplantation and the diagnosis by fetal nucleated erythrocytes in maternal blood.
Wen
Shu
S
National Laboratory of Medical Genetics, Central South University, Changsha, 410078, China.
Wu
Ling-qian
LQ
Li
Qi
Q
D001483:Base Sequence; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005453:Fluorescence; D008040:Genetic Linkage; D005838:Genotype; D005914:Globins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
D005914:Globins