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接受体外受精治疗的女性中 - 无效基因型的检测。

Detection of -null Genotype in Women Undergoing IVF Treatment.

作者信息

Chrysanthopoulos Ioannis, Petsavas Angelos, Mavrogianni Despoina, Potiris Anastasios, Machairiotis Nikolaos, Drakaki Eirini, Vrachnis Dionysios, Machairoudias Pavlos, Karampitsakos Theodoros, Perros Paraskevas, Koratzanis Christos, Drakakis Peter, Stavros Sofoklis

机构信息

First Department of Obstetrics and Gynecology, Alexandra Hospital, Medical School, National and Kapodistrian University of Athens, 115 28 Athens, Greece.

Third Department of Obstetrics and Gynecology, University General Hospital "ATTIKON", Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece.

出版信息

J Clin Med. 2023 Nov 23;12(23):7269. doi: 10.3390/jcm12237269.

Abstract

BACKGROUND

Glutathione S-transferase (GST) M1 belongs to a family of detoxification enzymes and deficiency in enzyme activity is due to a homozygous deletion of the gene. Several studies reveal a possible correlation between female infertility and polymorphisms. The aim of this study is to investigate the effect of the -null polymorphism in female infertility as well as in IVF parameters.

METHODS

In the study group 125 women were classified as infertile according to WHO and 49 women with at least one successful pregnancy and no miscarriages, as control group. Genomic DNA from blood samples was isolated and PCR amplification was applied to determine the presence of -null genotype.

RESULTS

Data analysis demonstrated a statistically significant higher presence of -null variant in the infertile group compared to the control group. In a subgroup analysis of the infertile group, the estradiol levels, the number of fertilized oocytes as well as the number and the quality of the cumulus-oocyte complex, were statistically significant higher in women detected with the wildtype of gene compared to those who had the null genotype (deletion).

CONCLUSIONS

Our study results propose a possible involvement of GMST1 in female infertility and may help elucidate possible interactions between the microenvironment of oocytes and the oxidative stress.

摘要

背景

谷胱甘肽S-转移酶(GST)M1属于解毒酶家族,酶活性缺乏是由于该基因的纯合缺失所致。多项研究揭示了女性不孕症与该基因多态性之间可能存在的关联。本研究的目的是调查GST M1基因无效多态性对女性不孕症以及体外受精(IVF)参数的影响。

方法

在研究组中,125名女性根据世界卫生组织标准被分类为不孕,49名至少有一次成功妊娠且无流产的女性作为对照组。从血液样本中分离基因组DNA,并应用聚合酶链反应(PCR)扩增来确定GST M1基因无效基因型的存在情况。

结果

数据分析表明,与对照组相比,不孕组中GST M1基因无效变异的存在在统计学上显著更高。在不孕组的亚组分析中,与具有GST M1基因无效基因型(缺失)的女性相比,检测到GST M1基因野生型的女性的雌二醇水平、受精卵母细胞数量以及卵丘-卵母细胞复合体的数量和质量在统计学上显著更高。

结论

我们的研究结果表明GST M1可能参与女性不孕症,并可能有助于阐明卵母细胞微环境与氧化应激之间可能的相互作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24ba/10707227/8efdad1fcb36/jcm-12-07269-g001.jpg

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