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首页> 外文会议>UKM FST Postgraduate Colloquium >Screening of Polymorphisms for MTHFR and DHFR Genes in Spina Bifida Children and Their Mothers
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Screening of Polymorphisms for MTHFR and DHFR Genes in Spina Bifida Children and Their Mothers

机译：筛窦与脊柱儿童及其母亲MTHFR和DHFR基因多态性的筛选

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Mechanism underlying the beneficial effect of folic acid supplementation in reducing the risk of neural tube defect is still not well understood. Current evidences show the involvement of folic acid metabolic gene’s polymorphism as contributing factors that regulate this pathway. Therefore, the objective of this research was to determine the presence of C677T polymorphism for methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR-19 bp deletion) genes between mother-children pairs of case and control. With the approval of UKMMC ethic committee, genomic DNA was extracted from one hundred and forty consented bloods. Polymerase chain reaction (PCR), PCRRFLP (Restriction Fragment Length Polymorphism) and sequencing were employed to verify each nucleotide change. Our result shows that mutant MTHFR and DHFR alleles are present in all Malaysian sub-ethnic groups, case and control. Even though mutant MTHFR are found to be slightly higher in the case groups, 75% of the affected child is a non carrier for this allele and 62.5% of the mothers with an affected child are genotypically normal. For DHFR, almost all (87.5-100%) investigated samples are a carrier or having a double DHFR deletion be it a case or control pairs. However, strong maternal inheritance shown by the deleted allele might be due to a cascade effect of lacks of folate consumption or maternal uniparental disomy. In conclusion, the use of MTHFR and DHFR as markers in determining the risk of having spina bifida baby is uninformative and plays a small indirect role as the genetic causes of spina bifida. Therefore, spina bifida remains etiologically unknown polygenic and quantitative developmental trait whereby the searches for positive genetic marker need to be continued.
机译：叶酸补充在降低神经管缺陷风险中的叶酸效果的机制仍未得到很好的理解。目前的证据表明，叶酸代谢基因的多态性涉及调节该途径的贡献因素。因此，本研究的目的是确定C677T多态性甲基四氢叶酸还原酶（MTHFR）和二氢叶酸还原酶（DHFR-19 bp的缺失）的母亲，孩子对病例和对照之间基因的存在。通过批准UKMC伦理委员会，基因组DNA被从一百和四十个同意的血液中提取。聚合酶链反应（PCR），使用PCRRFLP（限制性片段长度多态性）和测序以验证每个核苷酸变化。我们的结果表明，突变体MTHFR和DHFR等位基因存在于所有马来西亚子民族，案例和控制中。尽管在病例组中发现突变MTHFR略高，但75％的受影响的儿童是这种等位基因的非载体，其中62.5％的受影响儿童的母亲是基因型正常的。对于DHFR，几乎所有（87.5-100％）所研究的样品是载体或双DHFR删除是一种案例或对照对。然而，删除等位基因显示的强大产妇遗产可能是由于缺乏叶酸消费或孕产妇发起天性的级联效应。总之，使用MTHFR和DHFR作为标记确定具有脊柱脊柱珠宝婴儿的风险的标记是不合适的，并且作为脊柱珠氏菌的遗传原因起着小的间接作用。因此，脊柱垫仍然是病因源未知的多基因和定量发育性状，因此需要继续寻找阳性遗传标记。

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