Two cases of <i>MTHFR</i> C677T polymorphism typing failure by Taqman system due to <i>MTHFR</i> 679 GA heterozygous mutation-Reference-Cited by-同舟云学术

Two cases of MTHFR C677T polymorphism typing failure by Taqman system due to MTHFR 679 GA heterozygous mutation

Published:2024-08-09 Issue: Volume: Page:
ISSN:1434-6621
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Che Guanglu¹,Liu Xiaojuan¹,Liu Fang¹,Chang Li¹,Yang Qiuxia¹

Affiliation:

1. Department of Laboratory Medicine, West China Second University Hospital, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital , Sichuan University , Chengdu , Sichuan , P.R. China

Funder

Science and Technology Department of Sichuan Province

Xinya Research Foundation of West China Second Hospital of Sichuan University

Publisher

Walter de Gruyter GmbH

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2024-0245/pdf

Reference9 articles.

1. Yu, S, Li, X, Liu, X, Wang, Y, Yu, F, Xue, Y, et al.. Characteristic and influencing factors of Taqman genotyping calling error. J Clin Lab Anal 2018;32:e22613. https://doi.org/10.1002/jcla.22613.

2. Ducker, GS, Rabinowitz, JD. One-carbon metabolism in health and disease. Cell Metabol 2017;25:27–42. https://doi.org/10.1016/j.cmet.2016.08.009.

3. Froese, DS, Huemer, M, Suormala, T, Burda, P, Coelho, D, Guéant, JL, et al.. Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Hum Mutat 2016;37:427–38. https://doi.org/10.1002/humu.22970.

4. Liew, SC, Gupta, ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet 2015;58:1–10. https://doi.org/10.1016/j.ejmg.2014.10.004.

5. Kumar, P, Mishra, A, Prasad, MK, Verma, V, Kumar, A. Relationship of methylenetetrahydrofolate reductase (MTHFR) C677T variation with susceptibility of patients with ischemic stroke: a meta-analysis. Cureus 2022;14:e28218. https://doi.org/10.7759/cureus.28218.