title: Quantitative polymerase chain reaction for the rapid prenatal diagnosis of homozygous alpha-thalassaemia (Hb Barts hydrops fetalis).
abstract: A quantitative polymerase chain reaction (Q-PCR) method based on the TaqMan technology has been devised for the prenatal diagnosis of homozygous alpha*-thalassaemia (south-east Asian type deletion). Primers and TaqMan probes were designed to specifically amplify an alpha*-thal chromosomal fragment or a normal alpha-chromosomal fragment. Variations in input target DNA in individual sample wells were normalized by the simultaneous amplification of a beta-actin gene fragment and results expressed as a ratio to that of beta-actin. There was no overlap of the data between the homozygous alpha*-thal, alpha*-thal and normal subjects. Up to 5% maternal DNA (alpha*-thal) contamination did not affect the specificity of the result. In 31 prenatal diagnoses, the result using Q-PCR compared favourably with the gold standard of Southern hybridization of alpha-genes.
authors.affiliation: University Department of Medicine, Queen Mary Hospital, Hong Kong, China. vnychana@hkucc.hku.hk
authors.forename: V
authors.initials: V
authors.lastname: Chan
authors.forename: B
authors.initials: B
authors.lastname: Yip
authors.forename: Y H
authors.initials: YH
authors.lastname: Lam
authors.forename: H Y
authors.initials: HY
authors.lastname: Tse
authors.forename: H S
authors.initials: HS
authors.lastname: Wong
authors.forename: T K
authors.initials: TK
authors.lastname: Chan
mesh_terms: D000199:Actins / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D000199:Actins