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  • Title: [A case of prenatal diagnosis of beta-thalassemia by polymerase chain reaction].
    Author: Kolesnikova TN, Moliaka IuK, Surin VL, Luk'ianenko AV, Asanov AIu, Tagiev AF, Solov'ev GIa.
    Journal: Genetika; 1992 Dec; 28(12):130-4. PubMed ID: 1363470.
    Abstract:
    The prenatal diagnosis of beta-thalassemia in the Udin family, where the parents were the carriers of 2 bp deletion in the codon 8 (-AA) was undertaken using PCR. Five polymorphic restriction endonuclease sites in the beta-globin gene region were tested. They are: 2 HindIII sites in the gamma G and gamma A genes, 2 HincII sites located in the pseudogene and in its 3'-flanking region, and the AvaIII site in the second exon of the beta-globin gene. The heteroduplex analysis was also performed. Two HindIII polymorphic sites were informative and the HincII site in the pseudogene and the AvaII site in the beta-globin gene were partially informative. According to the results of the RFLP analysis, the embryo was heterozygous. The similar result was obtained by heteroduplex analysis.
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