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空孕囊妊娠中基因的多态性:一项病例对照研究。

Polymorphism of gene in pregnancies with blighted ovum: A case-control study.

作者信息

Moshtaghi Asiyeh, Vaziri Hamidreza, Sariri Reyhaneh, Shaigan Hoorieh

机构信息

Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.

Guilan University of Medical Sciences, Rasht, Iran.

出版信息

Int J Reprod Biomed. 2017 Aug;15(8):503-508.

Abstract

BACKGROUND

Blighted ovum is one of the most common reasons for abortion during the first three months of pregnancy. Manganese superoxide dismutase (MnSOD) is an important antioxidant enzyme in the human immune system. The gene is located on 6q25 chromosome and acts on mitochondrial matrix. In the case of mutation or inactivity of this enzyme, mitochondrial and nuclear DNA will severely be destructed. The most common polymorphism of its gene is Val16Ala.

OBJECTIVE

The aim was to investigate a possible mutation in pregnant women who had abortion during the first trimester of pregnancy due to blighted ovum.

MATERIALS AND METHODS

In this case-control study, 34 women were entered as the case and control groups, respectively. Genome DNA was extracted from saliva samples and its genotype was determined using Tetra-primer amplification refractory mutation system polymerase chain reaction technique.

RESULTS

In the case group, 16 (48%) cases had Val/Val genotype, 17 (50%) were heterozygote and had Val/Ala genotype, and 1 (2%) had Ala/Ala genotype. Among controls, 7 (22%) items had Val/Val genotype, 6 (17%) had Val/Ala genotype, and 21 (61%) had Ala/Ala genotype. The frequency of TT, CT, and CC genotypes was 48%, 50%, and 2% in case group and 22%, 17%, and 61% in control group, respectively. Statistical analysis revealed a significant relationship between Val16Ala polymorphism of MnSOD gene and blighted ovum (p= 0.0003).

CONCLUSION

It has concluded that a significant relationship exists between Val16Ala polymorphism of MnSOD gene and blighted ovum.

摘要

背景

空孕囊是妊娠前三个月流产最常见的原因之一。锰超氧化物歧化酶(MnSOD)是人体免疫系统中的一种重要抗氧化酶。该基因位于6号染色体q25位置,作用于线粒体基质。若该酶发生突变或失活,线粒体和核DNA将受到严重破坏。其基因最常见的多态性是Val16Ala。

目的

旨在研究因空孕囊在妊娠早期流产的孕妇中可能存在的突变。

材料与方法

在这项病例对照研究中,分别有34名女性进入病例组和对照组。从唾液样本中提取基因组DNA,并使用四引物扩增阻滞突变系统聚合酶链反应技术确定其基因型。

结果

病例组中,16例(48%)为Val/Val基因型,17例(50%)为杂合子,具有Val/Ala基因型,1例(2%)为Ala/Ala基因型。对照组中,7例(22%)为Val/Val基因型,6例(17%)为Val/Ala基因型,21例(61%)为Ala/Ala基因型。病例组中TT、CT和CC基因型的频率分别为48%、50%和2%,对照组中分别为22%、17%和61%。统计分析显示MnSOD基因的Val16Ala多态性与空孕囊之间存在显著相关性(p = 0.0003)。

结论

得出结论,MnSOD基因的Val16Ala多态性与空孕囊之间存在显著相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c283/5653912/8484312ba991/ijrb-15-503-g001.jpg

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