P. Winichagoon et al., DETECTION OF ALPHA-THALASSEMIA-1 (SOUTHEAST-ASIAN TYPE) AND ITS APPLICATION FOR PRENATAL-DIAGNOSIS, Clinical genetics, 47(6), 1995, pp. 318-320
A simple non-radioactive method based on the polymerase chain reaction
was used to detect the Southeast Asian type of ol-thalassemia 1 (--).
Three oligonucleotide primers, one of which was adjacent to the break
point 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 57
0 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 detect
ed in alpha-thalassemia-1 trait (-/alpha alpha) and Hb H patients (--/
-alpha). This procedure is useful for the rapid screening of alpha-tha
lassemia-1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis i
n populations with a high frequency of the Southeast Asian Type of alp
ha-thalassemia-1.