[Rapid detection of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction and its application to prenatal diagnosis].
OBJECTIVE
To establish a rapid and simple polymerase chain reaction (PCR) method for detecting alpha-thalassemia of Southeast Asia deletion, and apply it to the prenatal diagnosis for high risk fetuses.


METHODS
Two pairs of primers were designed: one pair bridging the breakpoints to identify the specific deletion, the other located in the common deletion region of --(SEA), -alpha(3.7) and -alpha(4.2) gene to detect the normal chromosomes. In this system, the two amplifications ran in the same PCR tube under identical condition.


RESULTS
A 740 bp fragment was amplified in chromosomes with --(SEA) determinant and a 1,052 bp fragment in normal chromosomes. For prenatal diagnosis, 3 of 8 at-risk cases were diagnosed as normal, 3 as heterozygotes, and 2 as homozygotes of --(SEA) deletion.


CONCLUSIONS
This detection method is rapid and accurate and can be used as a routine method for carrier detection and prenatal diagnosis.
Xiao
W
W
Institute of Molecular Biology, First Military Medical University, Guangzhou 510515, China.
Xu
X
X
Liu
Z
Z
D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics