Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult | Zendy

Patryk Lipiński | Zendy; Anna Bogdańska | Zendy; Agnieszka SobczyńskaTomaszewska | Zendy; Anna TylkiSzymańska | Zendy

Open Access

Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

Author(s) -

Patryk Lipiński,

Anna Bogdańska,

Agnieszka SobczyńskaTomaszewska,

Anna TylkiSzymańska

Publication year - 2021

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2020_5715

Subject(s) - transferrin , proband , gene , genetics , glycosylation , biology , carbohydrate deficient transferrin , microbiology and biotechnology , mutation , biochemistry , alcohol , alcohol consumption

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.

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