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Detection of α‐thalassemia‐1 (Southeast Asian type) and its application for prenatal diagnosis
Author(s) -
Winichagoon Pranee,
Fucharoen Suthat,
Kanokpongsakdi Sujin,
Fukumaki Yazuyuki
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03972.x
Subject(s) - alpha thalassemia , hydrops fetalis , alpha (finance) , thalassemia , alpha globulin , genetics , biology , prenatal diagnosis , microbiology and biotechnology , medicine , gene , fetus , genotype , pregnancy , construct validity , nursing , patient satisfaction
A simple non‐radioactive method based on the polymerase chain reaction was used to detect the Southeast Asian type of α‐thalassemia 1 (–). Three oligonucleotide primers, one of which was adjacent to the breakpoint of the α‐thalassemia‐1 allele, were used to amplify the 570 and 194 bp DNA fragments. The 570 bp product was specific to the α‐thalassemia‐1 determinant and the 194 bp fragment was amplified from either the α‐thalassemia‐2 (‐α) or normal α‐globin (αα) determinants. In Hb Bart's hydrops fetalis (–/–), only the 570 bp fragment was obtained, whereas the 194 bp fragment was amplified in normal individual (αα/αα) and α‐thalassemia‐2 trait (‐α/αα). Both 570 and 194 bp fragments were detected in α‐thalassemia‐1 trait (–/αα) and Hb H patients (–/‐α). This procedure is useful for the rapid screening of α‐thalassemia‐1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis in populations with a high frequency of the Southeast Asian Type of α‐thalassemia‐1.