DETECTION OF ALPHA-THALASSEMIA-1 (SOUTHEAST-ASIAN TYPE) AND ITS APPLICATION FOR PRENATAL-DIAGNOSIS

Citation
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
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
47
Issue
6
Year of publication
1995
Pages
318 - 320
Database
ISI
SICI code
0009-9163(1995)47:6<318:DOA(TA>2.0.ZU;2-6
Abstract
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.