TUBB8基因突变相关女性不孕的研究进展

doi:10.12280/gjfckx.20210714

摘要/Abstract

摘要：

β-微管蛋白8（tubulin beta eight class Ⅷ,TUBB8）为灵长类动物中一种特有的β-微管蛋白,其编码基因TUBB8与女性不孕的相关性于2016年得到明确。TUBB8基因的百余种不同突变均可不同程度地影响生育过程,导致女性不孕的可能性增高。众多的基因突变可以按照其遗传模式特点和碱基变化特点的不同而进行分类及归纳。从基因水平出发的研究逐步揭示了基因突变所导致的蛋白质转录的错误及功能区作用的异常,再以分子水平异常解释细胞水平异常,进一步可以归纳出7种导致女性不孕的机制,涉及女性妊娠前及妊娠的全过程。目前,对于TUBB8的研究已逐渐应用于临床,在不孕症的诊断、治疗以及辅助生殖技术的改善等方面均有不同程度的进展。

关键词: 微管蛋白, 卵母细胞, 基因, 突变, 不育,女（雌）性

Abstract:

Tubulin beta eight class Ⅷ (TUBB8) is one type of the β-tubulin only found in primates. The correlation between TUBB8 gene and female infertility was clarified in 2016. By summarizing the relevant reports, this paper summarize that more than 100 different mutations of the gene can affect the reproductive process to varying degrees and increase the possibility of female infertility. Many gene mutations can be classified and summarized according to their genetic pattern and base change. Based on the research at the gene level, it gradually reveals the error of the protein and the domain caused by the mutation of TUBB8. By explaining the abnormality at the molecular level to the cell level, it can summarize seven mechanisms causing female infertility, which happen in the whole process of pregnancy. At present, the research on TUBB8 has been gradually used in clinical works, such as the diagnosis and treatment of infertility and the improvement of assisted reproductive technology.

Key words: Tubulin, Oocytes, Genes, Mutation, Infertility,female

李曈月, 翁静. TUBB8基因突变相关女性不孕的研究进展[J]. 国际妇产科学杂志, 2022, 49(1): 82-86.

LI Tong-yue, WENG Jing. Research Progress of TUBB8 Mutation Related to Female Infertility[J]. Journal of International Obstetrics and Gynecology, 2022, 49(1): 82-86.

图/表 2

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