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等位基因复杂性与体外受精受精成功率:局限性与未来展望。

Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives.

作者信息

Rodrigues Bárbara, Vale-Fernandes Emídio, Sousa Vanessa, Marques Isabel, Santos Rosário, Nogueira António J A, Jorge Paula

机构信息

Molecular Genetics Laboratory, Laboratory Genetics Service, Genetics and Pathology Clinic, Unidade Local de Saúde de Santo António (ULSSA), Largo Professor Abel Salazar, 4099-001 Porto, Portugal.

UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS-School of Medicine and Biomedical Sciences, UPorto-University of Porto, Rua Jorge de Viterbo Ferreira 228, 4050-313 Porto, Portugal.

出版信息

Int J Mol Sci. 2025 Jun 16;26(12):5752. doi: 10.3390/ijms26125752.

Abstract

We investigated whether allelic complexity-integrating CGG repeat length with the number and pattern of AGG interspersions-can be used as a predictor of ovarian reserve and in vitro fertilization (IVF) success. This cohort study included 124 females with infertility attributed to female factors undergoing intracytoplasmic sperm injection (ICSI). The total CGG repeat lengths and AGG interspersion patterns of the gene were determined by conventional polymerase chain reaction (PCR) and triplet-primed PCR. The allelic complexity () was calculated using a previously described formula by combining the , allowing for the stratification of samples into and groups. No statistically significant differences were observed in ovarian reserve markers or overall IVF outcomes between the two groups. However, within the group, the of allele 1 was significantly correlated with the number of both injected metaphase II and two-pronuclei oocytes. These findings suggest that allelic complexity may contribute to predicting IVF success, particularly in females classified in the group, who appear more susceptible to IVF failure than those in the group. Further research into the predictive utility of could provide valuable insights for fertility assessment and enhance assisted reproductive technologies.

摘要

我们研究了等位基因复杂性(将CGG重复长度与AGG散布的数量和模式相结合)是否可作为卵巢储备和体外受精(IVF)成功率的预测指标。这项队列研究纳入了124名因女性因素导致不孕且接受卵胞浆内单精子注射(ICSI)的女性。通过常规聚合酶链反应(PCR)和三联体引物PCR确定该基因的总CGG重复长度和AGG散布模式。利用先前描述的公式结合二者计算等位基因复杂性(),从而将样本分为和组。两组之间在卵巢储备标志物或总体IVF结局方面未观察到统计学上的显著差异。然而,在组内,等位基因1的与注射的中期II期和双原核卵母细胞数量均显著相关。这些发现表明,等位基因复杂性可能有助于预测IVF成功率,尤其是在组中的女性,她们似乎比组中的女性更容易出现IVF失败。对等位基因复杂性预测效用的进一步研究可为生育力评估提供有价值的见解,并改善辅助生殖技术。

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