Single Nucleotide Polymorphism p.Val66Met in BDNF Gene in the Czech Population


Authors: S. Walczysková 1;  P. Ressner 2;  Š. Hilscherová 1
Authors‘ workplace: Laboratoř DNA diagnostiky, oddělení lékařské genetiky, FN Ostrava 1;  Ambulance pro extrapyramidová onemocněni a kognitivni poruchy, Neurologická klinika, LF OU a FN Ostrava 2
Published in: Cesk Slov Neurol N 2017; 80/113(5): 597-600
Category: Short Communication
doi: 10.14735/amcsnn2017597

Overview

Aim:
To determine the allele frequency of the p.Val66Met (rs6265) polymorphism in BDNF gene (brain-derived neurotrophic factor, BDNF) in the Czech population. The p.Val66Met (rs6265) polymorphism in the BDNF gene is associated with impaired intracellular trafficking and secretion of BDNF. Alterations in BDNF expression and function are involved in different brain disorders and represent a major downstream mechanism for stress response.

Material and methods:
Retrospectively, 317 DNA control samples of Czech individuals aged between 45 and 81 years (173 men and 144 women), were examined for p.Val66Met polymorphism in the BDNF gene using the melting analysis.

Results:
Frequency of the mutant allele (A) was 16.3% and it was 83.7% for the wild type allele (G).

Conclusion:
The requency of the p.Val66Met polymorphism in the BDNF gene in the Czech population was determined.

Key words:
brain-derived neurotrophic factor (BDNF) – single nucleotide polymorphism – genotype – Czech population

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.


Chinese summary - 摘要

捷克人口BDNF基因的单核苷酸多态性p.Val66Met

目标:

为了确定捷克人口的BDNF基因(脑源性神经营养因子,脑源性神经营养因子)中p.Val66Met(rs6265)多态性的等位基因频率。BDNF基因中的p.Val66Met(rs6265)多态性与受损的细胞内运输和BDNF的分泌有关。BDNF表达和功能的改变涉及不同的脑疾病,并且是应激反应的主要下游机制。

材料和方法:

使用融合分析方法,回顾性分析了317例45〜81岁捷克人(173例男性,144例女性)的DNA对照样本,检测其BDNF基因中的p.Val66Met多态性。

结果:

突变等位基因(A)的频率为16.3%,野生型等位基因(G)为83.7%。

结论:

确定了捷克人口BDNF基因中的p.Val66Met多态性的频率。

关键词:

脑源性神经营养因子(BDNF) - 单核苷酸多态性 - 基因型 - 捷克人口


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Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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