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
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| 024 | 7 | 0 | |a 10.1515/CCLM.2003.235 |2 doi |
| 035 | |a (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.235 | ||
| 245 | 0 | 0 | |a 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 |h [Elektronische Daten] |c [Stefan Wans, Katrin Schüttler, Sibylle Jakubiczka, Andreas Müller, Claus Luley, Jutta Dierkes] |
| 520 | 3 | |a 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. | |
| 540 | |a Copyright © 2003 by Walter de Gruyter GmbH & Co. KG | ||
| 690 | 7 | |a Medical equipment & techniques |2 nationallicence | |
| 690 | 7 | |a Medical diagnosis |2 nationallicence | |
| 690 | 7 | |a Diseases & disorders |2 nationallicence | |
| 700 | 1 | |a Wans |D Stefan |4 aut | |
| 700 | 1 | |a Schüttler |D Katrin |4 aut | |
| 700 | 1 | |a Jakubiczka |D Sibylle |4 aut | |
| 700 | 1 | |a Müller |D Andreas |4 aut | |
| 700 | 1 | |a Luley |D Claus |4 aut | |
| 700 | 1 | |a Dierkes |D Jutta |4 aut | |
| 773 | 0 | |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 41/11(2003-11-17), 1532-1536 |x 1434-6621 |q 41:11<1532 |1 2003 |2 41 |o cclm | |
| 856 | 4 | 0 | |u https://doi.org/10.1515/CCLM.2003.235 |q text/html |z Onlinezugriff via DOI |
| 908 | |D 1 |a research article |2 jats | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1515/CCLM.2003.235 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Wans |D Stefan |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Schüttler |D Katrin |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Jakubiczka |D Sibylle |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Müller |D Andreas |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Luley |D Claus |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Dierkes |D Jutta |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 41/11(2003-11-17), 1532-1536 |x 1434-6621 |q 41:11<1532 |1 2003 |2 41 |o cclm | ||
| 900 | 7 | |b CC0 |u http://creativecommons.org/publicdomain/zero/1.0 |2 nationallicence | |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-gruyter | ||