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Quantitative polmerase chain reaction for the rapid prenatal diagnosis of homozygous α‐thalassaemia (Hb Barts hydrops fetalis)
Author(s) -
Chan Vivian,
Yip Ben,
Lam Y. H.,
Tse H. Y.,
Wong H. S.,
Chan T. K.
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.03112.x
Subject(s) - hydrops fetalis , prenatal diagnosis , taqman , microbiology and biotechnology , polymerase chain reaction , alpha (finance) , alpha thalassemia , biology , gene , genetics , medicine , genotype , fetus , pregnancy , construct validity , nursing , patient satisfaction
A quantitative polymerase chain reaction (Q‐PCR) method based on the TaqMan technology has been devised for the prenatal diagnosis of homozygous α°−thalassaemia (south‐east Asian type deletion). Primers and TaqMan probes were designed to specifically amplify an α°‐thal chromosomal fragment or a normal α‐chromosomal fragment. Variations in input target DNA in individual sample wells were normalized by the simultaneous amplification of a β‐actin gene fragment and results expressed as a ratio to that of β‐actin. There was no overlap of the data between the homozygous α°‐thal, α°‐thal and normal subjects. Up to 5% maternal DNA (α°‐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 α‐genes.