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[A case of prenatal diagnosis of beta-thalassemia by polymerase chain reaction].

作者信息

Kolesnikova T N, Moliaka Iu K, Surin V L, Luk'ianenko A V, Asanov A Iu, Tagiev A F, Solov'ev G Ia

出版信息

Genetika. 1992 Dec;28(12):130-4.

PMID: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.

摘要

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