Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult
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Published:2021-09-06
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ISSN:1734-154X
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Container-title:Acta Biochimica Polonica
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language:
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Short-container-title:Acta Biochim Pol
Author:
Lipiński PatrykORCID,
Bogdańska Anna,
Sobczyńska-Tomaszewska Agnieszka,
Tylki-Szymańska Anna
Abstract
Background: Several transferrin gene polymorphisms are known to result in a shifted IEF pattern. The aim of this study was to characterize the transferrin gene polymorphisms observed in patients from one referral center. Materials and methods: Patients with solely increased pentasialo-Tf were selected. The whole exome sequencing was done from probands (patients) and from DNA available from their parents. Results: Two various polymorphisms in the transferrin gene: c.2012G>A, p.Gly671Glu and c.1027C>T, p.Arg343Trp, were found. Conclusions: Two transferrin gene polymorphisms: c.2012G>A, p.(Gly671Glu) and c.1027C>T, p.(Arg343Trp) solely correspond to an elevated pentasialo-Tf.
Publisher
Polskie Towarzystwo Biochemiczne (Polish Biochemical Society)
Subject
General Biochemistry, Genetics and Molecular Biology