唐氏综合征患儿MTHFR C677T基因多态性及血浆同型半胱氨酸水平研究

宋萃; 朱岷; 熊丰

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唐氏综合征患儿MTHFR C677T基因多态性及血浆同型半胱氨酸水平研究

论著 | 更新时间：2026-01-09

- 唐氏综合征患儿MTHFR C677T基因多态性及血浆同型半胱氨酸水平研究
- MTHFR C677T polymorphism and plasma homocysteine level in children with Down syndrome
- 陆军军医大学学报 2010年32卷第24期页码：2640-2643
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  中图分类号： R596.102;R394.5;R446.19
- 纸质出版：2010
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宋萃,朱岷,熊丰.唐氏综合征患儿MTHFR C677T基因多态性及血浆同型半胱氨酸水平研究[J].陆军军医大学学报(原第三军医大学学报),2010,32(24):2640-2643.

　Song Cui,Xiong Feng,Zhu Min.MTHFR C677T polymorphism and plasma homocysteine level in children with Down syndrome[J].J Amry Med Univ (J Third Mil Med Univ),2010,32(24):2640-2643.
宋萃,朱岷,熊丰.唐氏综合征患儿MTHFR C677T基因多态性及血浆同型半胱氨酸水平研究[J].陆军军医大学学报(原第三军医大学学报),2010,32(24):2640-2643. DOI：

　Song Cui,Xiong Feng,Zhu Min.MTHFR C677T polymorphism and plasma homocysteine level in children with Down syndrome[J].J Amry Med Univ (J Third Mil Med Univ),2010,32(24):2640-2643. DOI：

摘要

目的了解唐氏综合征(down syndrome，DS)患儿5，10-亚甲基四氢叶酸还原酶（5

10-methylenetetrahydrofolate reductase，MTHFR）基因多态性及血浆同型半胱氨酸（homocysteine

Hcy）水平的关系，探索DS患儿精神发育迟滞的可能机制。方法采用病例-对照研究，收集经外周血染色体核型分析确诊为标准型DS的患儿20例作为病例组，同时收集健康儿童33例作为对照组。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测MTHFR 677位点基因多态性，以直接测序法验证。ELISA法测Hcy水平。对比DS组和对照组MTHFR 677位点基因突变频率；对比C/T及T/T基因型与C/C基因型儿童Hcy水平；对比DS组和对照组Hcy水平。结果 ①53例中国汉族儿童MTHFR 677位点纯合突变率为11.3％。DS组MTHFR 677位点突变频率较对照组显著升高（P0.05）。DS组T等位基因频率显著高于对照组（P0.05）。②C/T及T/T基因型儿童Hcy较C/C基因型儿童显著升高（P0.05）。③DS组Hcy较对照组显著升高（P0.05）。DS组高同型半胱氨酸血症发生率显著高于对照组（P0.05）。结论中国汉族儿童中存在MTHFR 677位点基因多态现象。DS患儿MTHFR 677位点基因多态现象较普遍，该位点基因突变可能导致叶酸代谢关键酶活性降低，引起高同型半胱氨酸血症，导致DS患儿精神发育迟滞。

Abstract

Objective To investigate the relationship between the polymorphism of 5

10-methylenetetrahydrofolate reductase (MTHFR) C677T and the plasma level of homocysteine (Hcy) in Down syndrome (DS) children

and explore the possible mechanisms of mental retardation in DS. Methods A case-control study was conducted on 20 G-banded karyotype analysis identified DS patients and 33 matched healthy children from September 2008 to December 2009. The polymorphism in MTHFR C677T was genotyped by PCR-RFLP

then verified by sequence analysis. The plasma level of Hcy was tested by enzyme-linked immunosorbent assay (ELISA). The frequency of MTHFR C677T mutation was compared between DS group and control group. Plasma level of Hcy between children with C/T

T/T genotypes and children with C/C genotype

and between DS group and control group were compared. Results The homozygous mutation rate was 11.3% among those 53 Chinese Han children. DS group got remarkable higher mutation rate of MTHFR C677T than control group（P0.05）. DS group had significantly higher T allele frequency （P0.05）. The plasma level of Hcy was remarkable higher in children with C/T and T/T genotypes than in children with C/C genotype（P0.05）. DS group had significantly higher plasma level of Hcy than control group（P0.05）. DS group had remarkable higher incidence of hyperhomocysteinemia than control group（P0.05）. Conclusion There is genetic polymorphism in MTHFR C677T among Chinese Han children. The genetic polymorphism in MTHFR C677T is more common in DS group. The mutation of this gene site may lead to lower activity of the key enzyme which takes part in the folic acid metabolism

and cause hyperhomocysteinemia

resulting in mental retardation appeared in DS patients finally.

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