دورية أكاديمية

Genetic basis of synthesis of carbohydrate blood group antigens ; Genetyczne podstawy syntezy cukrowych antygenów grupowych krwi

التفاصيل البيبلوغرافية
العنوان: Genetic basis of synthesis of carbohydrate blood group antigens ; Genetyczne podstawy syntezy cukrowych antygenów grupowych krwi
المؤلفون: Czerwiński, Marcin, Kaczmarek, Radosław
المصدر: Acta Haematologica Polonica; Vol 44, No 3 (2013); 251-259
بيانات النشر: Via Medica
سنة النشر: 2013
المجموعة: Via Medica Journals
مصطلحات موضوعية: Carbohydrate blood-group antigens, ABO, P1PK, NOR, point mutations, cukrowe antygeny grupowe krwi, punktowe mutacje
الوصف: Diversity of carbohydrate blood group antigens emerged as a result of point mutations in genes encoding glycosyltransferases. In the ABO and P1PK systems, which have the highest clinical relevance, polymorphism is caused by mutations in genes encoding ABO transferase and P1/Pk synthase. In the case of ABO blood group system, mutations in the gene encoding ABO transferase may influence the donor specificity of the enzyme, resulting in synthesis of A or B blood group antigens. In contrast, a point mutation in the gene encoding P1/Pk synthase may cause change of the acceptor specificity of the enzyme, resulting in synthesis of NOR antigen, which is responsible for inheritable NOR polyagglutination. On the other hand, point mutations in the noncoding fragment of that gene may be the cause of P1/P2 blood polymorphism, acting by upregulating the transcription of P1/Pk synthase. The increased transcription may result in expression of P1 antigen, which is absent from erythrocytes from P2 individuals. Thus, influence of point mutations on erythrocyte phenotype may be of quantitative (antigens A, B, NOR) or qualitative nature (antigen P1). This article attempts to provide an insight into the diversity of genes encoding glycosyltransferases and its influence on synthesis of oligosaccharide blood group antigens.
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: Polish
العلاقة: https://journals.viamedica.pl/acta_haematologica_polonica/article/view/83623Test
DOI: 10.1016/j.achaem.2013.07.029
الإتاحة: https://doi.org/10.1016/j.achaem.2013.07.029Test
https://journals.viamedica.pl/acta_haematologica_polonica/article/view/83623Test
حقوق: Completion of the online submission form electronically (the Author's Statement) is tantamount to automatic transfer of the copyright for publishing and distribution of the submitted material (in all current and future forms and fields of exploitation) to the Copyright Owner, i.e. Polish Society Haematology and Blood Transfusion, Institute of Haematology and Transfusion Medicine, on condition that these materials are accepted for publication. The authors agree not to publish any data or figures presented in their work in any place or in any language without the prior written consent of Via Medica.
رقم الانضمام: edsbas.25F0659F
قاعدة البيانات: BASE