caa a22 4500 378852299 CHVBK 20180305123326.0 cr unu---uuuuu 161128e20031117xx s 000 0 eng 10.1515/CCLM.2003.235 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.235 Analysis of the Transcobalamin II 776C>G (259P>R) Single Nucleotide Polymorphism byDenaturing HPLC in Healthy Elderly: Associations with Cobalamin, Homocysteine and Holo-Transcobalamin II [Elektronische Daten] [Stefan Wans, Katrin Schüttler, Sibylle Jakubiczka, Andreas Müller, Claus Luley, Jutta Dierkes] A relatively new method for the detection of single nucleotide polymorphisms is the use of denaturing highperformance liquid chromatography (DHPLC). DHPLC was used to analyse the transcobalamin II 776C>G polymorphism in DNA from 159 healthy elderly. Furthermore, cobalamin, folate, homocysteine and holotranscobalamin II (holo-TC II) were measured. The allele frequency of the G-allele was 17% with n = 55 harbouring the CC genotype, n = 77 being heterozygous and n = 27 showing the GG genotype. Holo-TC II concentrations were significantly decreased in patients harbouring the GG genotype. There was no effect on cobalamin, methylmalonyl-CoA, folate or homocysteine concentrations. A new G>A variant at nucleotide position 810 in the TC II gene was detected by an altered peak pattern in the DHPLC and further elucidated by direct sequencing. The TC II G810A variant is a silent mutation without replacement of the corresponding amino acid (alanine) at position 270 in the TC II protein and was only found as a heterozygous genotype in a single patient. The new variant would have been undetected by other methods used for single nucleotide polymorphism detection, e.g.,restriction fragment length polymorphism analysis. The results suggest that the common TC II 776C>G polymorphism has no major influence on vitamin B12 metabolism. Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Wans Stefan aut Schüttler Katrin aut Jakubiczka Sibylle aut Müller Andreas aut Luley Claus aut Dierkes Jutta aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/11(2003-11-17), 1532-1536 1434-6621 41:11<1532 2003 41 cclm https://doi.org/10.1515/CCLM.2003.235 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2003.235 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wans Stefan aut NATIONALLICENCE 700 1- Schüttler Katrin aut NATIONALLICENCE 700 1- Jakubiczka Sibylle aut NATIONALLICENCE 700 1- Müller Andreas aut NATIONALLICENCE 700 1- Luley Claus aut NATIONALLICENCE 700 1- Dierkes Jutta aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/11(2003-11-17), 1532-1536 1434-6621 41:11<1532 2003 41 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter