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首页> 外文期刊>Sao Paulo Medical Journal >19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
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19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism

机译：二氢叶酸还原酶（DHFR）基因的19个碱基对缺失多态性：唐氏综合症和叶酸代谢的孕妇风险

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CONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). DESIGN AND SETTING: Analytical cross-sectional study carried out at Faculdade de Medicina de S?o José do Rio Preto (Famerp). METHODS: 105 mothers of individuals with free trisomy of chromosome 21, and 184 control mothers were evaluated. Molecular analysis on the polymorphism was performed using the polymerase chain reaction (PCR) through differences in the sizes of fragments. Folate was quantified by means of chemiluminescence, and Hcy and MMA by means of liquid chromatography and sequential mass spectrometry. RESULTS: There was no difference between the groups in relation to allele and genotype frequencies (P = 0.44; P = 0.69, respectively). The folate, Hcy and MMA concentrations did not differ significantly between the groups, in relation to genotypes (P > 0.05). CONCLUSIONS: The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for DS and was not related to variations in the concentrations of serum folate and plasma Hcy and MMA in the study population.
机译：背景与目的：叶酸代谢相关基因的多态性可能会调节孕产妇唐氏综合症（DS）的风险。这项研究评估了二氢叶酸还原酶（DHFR）基因的内含子1中19个碱基对（bp）缺失多态性对DS孕产妇风险的影响，并研究了这种多态性与血清叶酸浓度变化之间的关联。血浆同型半胱氨酸（Hcy）和血浆甲基丙二酸（MMA）。设计与地点：在里约普雷图托市的圣索菲亚大教堂（Faculdade de Medicina de S？oJosédo Rio Preto）进行的横截面分析研究。方法：对105名具有21号染色体自由三体性个体的母亲和184名对照母亲进行了评估。通过片段大小的差异，使用聚合酶链反应（PCR）对多态性进行了分子分析。通过化学发光法定量叶酸，通过液相色谱法和顺序质谱法对Hcy和MMA进行定量。结果：两组之间在等位基因频率和基因型频率上没有差异（分别为P = 0.44; P = 0.69）。相对于基因型，两组之间的叶酸，Hcy和MMA浓度无显着差异（P> 0.05）。结论：DHFR基因的19 bp缺失多态性不是DS的母体危险因素，并且与研究人群血清叶酸，血浆Hcy和MMA浓度的变化无关。

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