Detection of MTHFR (A1298C) Gene Polymorphism in Women Suffer from Different Types of Abortion in Mosul City

O. Alhassani, Z. Ramadan
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Abstract

Genetic basis of recurrent abortion is poorly understood, Single gene mutations, polygenic, and cytogenetic factors are all found to show association with recurrent abortion. The analysis of single nucleotide polymorphisms in the genes coding for enzymes which responsible for regulatory of metabolic pathways (e.g. methylene tetra hydrofolate reductase), clotting factors (Factor V leiden and prothrombin) and hormones and hormone receptors (progesterone receptor). This study included (85) pregnant women who suffer from problems during pregnancy and the age range was between (25-35) years. The samples were divided into four groups ,the first included pregnant women who suffer from recurrent spontaneous abortion , while the second included pregnant women with missed abortion , the third group included pregnant women with recurrent spontaneous abortion and positive TORCH examination and the final group was considered a control group. The result of the study showed a relationship between cases of pregnancy disorder and genetic mutations of MTHFR gene at the (A1298C) site, the result of the study for a group of women with RSA showed that the distribution of the mutant genotype CC was the highest 40% and the repetitive alleles for this group was 57.5% for mutant allele C and 42.5% for normal allele A. Also the group of missed abortion showed that the distribution of the mutant genotype CC was the highest 40% and the repetitive alleles for this group was 52.5% for mutant allele C and 47.5% for normal allele A. Whereas the group of women with positive TORCH showed that the distribution of heterozygous genotype was the highest 50% and the repetitive alleles for this group was 32.2% for mutant allele C and 67.8% for normal allele A.
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摩苏尔市不同类型流产妇女MTHFR (A1298C)基因多态性检测
复发性流产的遗传基础尚不清楚,单基因突变、多基因及细胞遗传因素均与复发性流产有关。负责代谢途径调节的酶(如亚甲基四氢叶酸还原酶)、凝血因子(因子V leiden和凝血酶原)、激素和激素受体(孕酮受体)编码基因的单核苷酸多态性分析。这项研究包括(85)名怀孕期间出现问题的孕妇,年龄范围在(25-35)岁之间。样本分为四组,第一组为复发性自然流产孕妇,第二组为漏产孕妇,第三组为复发性自然流产且TORCH检查阳性的孕妇,最后一组为对照组。研究结果显示妊娠障碍病例与MTHFR基因(A1298C)位点的基因突变有关。的结果与RSA一群妇女的研究表明,突变体基因型的分布CC最高40%,重复这一群体的等位基因为57.5%,突变等位基因C为42.5%,正常等位基因a稽留流产的小组显示,突变基因型的分布CC最高40%,重复这一群体的等位基因为52.5%,突变等位基因C为47.5%,正常等位基因a而群妇女积极的火炬杂合子基因型的分布最高,为50%,突变等位基因C的重复等位基因占32.2%,正常等位基因A的重复等位基因占67.8%。
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