Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Mol Genet Genomic Med. 2019 Sep;7(9):e891. doi: 10.1002/mgg3.891. Epub 2019 Jul 30.
Recurrent pregnancy loss (RPL) is one of the most common reproductive disorders which is defined as the occurrence of recurrent miscarriage before 24 weeks of gestation and is observed among 1%-5% of women.
Various factors are associated with RPL such as immunological disorders, maternal age, obesity, alcohol, chromosomal abnormality, endocrine disorders, and uterine abnormalities. About half of the RPL cases are related with chromosomal abnormalities. Therefore, RPL genetic tests are mainly limited to karyotyping. However, there is a significant proportion of RPL cases without any chromosomal abnormalities that can be related to the single-gene aberrations. Therefore, it is required to prepare a diagnostic panel of genetic markers besides karyotyping.
In the present review, we have summarized all the significant reported genes until now which are associated with RPL among Iranian women. We categorized all the reported genes based on their cellular and molecular functions in order to determine the molecular bases of RPL in this population.
This review paves the way of introducing a population-based diagnostic panel of genetic markers for the first time among Iranian RPL cases. Moreover, this review clarifies the genetic and molecular bases of RPL in this population.
复发性妊娠丢失（RPL）是最常见的生殖障碍之一，定义为妊娠 24 周前反复流产，占 1%-5%的女性。
多种因素与 RPL 相关，如免疫紊乱、母体年龄、肥胖、酒精、染色体异常、内分泌紊乱和子宫异常。约一半的 RPL 病例与染色体异常有关。因此，RPL 基因检测主要限于核型分析。然而，有相当一部分 RPL 病例没有任何染色体异常，可能与单基因异常有关。因此，除了核型分析外，还需要准备一个遗传标记的诊断面板。
在本综述中，我们总结了迄今为止所有与伊朗妇女 RPL 相关的重要报道基因。我们根据它们在细胞和分子功能上的分类，对所有报道的基因进行了分类，以便确定该人群中 RPL 的分子基础。
本综述为伊朗 RPL 病例首次引入基于人群的遗传标记诊断面板奠定了基础。此外，本综述阐明了该人群中 RPL 的遗传和分子基础。
