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A rapid and inexpensive polymerase chain reaction (PCR) based strategy is described which detects the three common, severe alpha thalassaemia determinants observed in southeast Asia (--SEA) and the Mediterranean (--MED and -(alpha)20.5). Oligonucleotide primers have been chosen which allow specific identification of both normal (alpha alpha) and abnormal (--) chromosomes using identical conditions in either the same or parallel PCR reactions. This strategy should be useful in the development of screening programmes to identify carriers of alpha thalassaemia (--/alpha alpha) and prenatal diagnosis of the Hb Bart's hydrops fetalis syndrome (--/--) for those populations in which this represents a major cause of perinatal death.

Type

Journal article

Journal

Br J Haematol

Publication Date

1992

Volume

81

Pages

104 - 108

Keywords

Base Sequence DNA/genetics Fetal Diseases/diagnosis/genetics Human Hydrops Fetalis/diagnosis/genetics Mass Screening Molecular Sequence Data Oligonucleotides/analysis Polymerase Chain Reaction Prenatal Diagnosis Thalassemia/*genetics/prevention & control