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An approach to preimplantation diagnosis of β‐thalassaemia
Author(s) -
Varawalla N. Y.,
Dokras A.,
Old J. M.,
Sargent I. L.,
Barlow D. H.
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970111006
Subject(s) - polymerase chain reaction , allele , biology , genetics , nested polymerase chain reaction , gene , microbiology and biotechnology
Using the polymerase chain reaction (PCR), it was possible to amplify a single copy fragment of the β‐globin gene from 2–32 human embryonic cells obtained from arrested preimplantation embryos. For the detection of β‐thalassaemia mutations, allele specific priming of the PCR using nested primers was employed using approximately 10 pg of DN A from individuals known to carry these mutations. This approach was successful in detecting the presence or absence of five Asian Indian β‐thalassaemia mutations that were selected for this study. In spite of meticulous precautions against contamination, false‐positive amplification was observed, a problem that will have to be overcome before this approach can be used in clinical practice.