Detection of alpha-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis.
A simple non-radioactive method based on the polymerase chain reaction was used to detect the Southeast Asian type of alpha-thalassemia 1 (--). Three oligonucleotide primers, one of which was adjacent to the breakpoint of the alpha-thalassemia-1 allele, were used to amplify the 570 and 194 bp DNA fragments. The 570 bp product was specific to the alpha-thalassemia-1 determinant and the 194 bp fragment was amplified from either the alpha-thalassemia-2 (-alpha) or normal alpha-globin (alpha alpha) determinants. In Hb Bart's hydrops fetalis (--/--), only the 570 bp fragment was obtained, whereas the 194 bp fragment was amplified in normal individual (alpha alpha/alpha alpha) and alpha-thalassemia-2 trait (-alpha/alpha alpha). Both 570 and 194 bp fragments were detected in alpha-thalassemia-1 trait (--/alpha alpha) and Hb H patients (--/-alpha). This procedure is useful for the rapid screening of alpha-thalassemia-1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis in populations with a high frequency of the Southeast Asian Type of alpha-thalassemia-1.
Winichagoon
P
P
Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Fucharoen
S
S
Kanokpongsakdi
S
S
Fukumaki
Y
Y
D001210:Asia, Southeastern / Q000453:epidemiology; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005820:Genetic Testing; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000235:genetics*
D005914:Globins