Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation
Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation
复制标题
原发性不孕女性卵母细胞成熟停滞的TUBB8基因突变分析
DOI：
10.1080/09513590.2018.1464138
复制
发表时间：
2018-01-01
影响因子：
2
通讯作者：
Mei, Shi-Yue
中科院分区：
文献类型：
--
作者：
Wang, An-Cong;Zhang, Yu-Song;Mei, Shi-Yue
Tubulin β 8 class VIII （TUBB8）是一种仅存在于灵长类动物中的-微管蛋白亚型。TUBB8基因的突变已被证明会导致卵母细胞成熟阻滞。本研究的目的是鉴定TUBB8的新突变类型。招募6名卵母细胞成熟停止的妇女（家庭）和100名健康对照者。对TUBB8基因序列进行扩增和Sanger测序分析，在1例患者中发现TUBB8新杂合变异体c.292G> a （p.G98R）。该TUBB8变异在100名可育雌性中缺失，并且通过SIFT和polyphen2预测该变异对TUBB8蛋白的功能具有高度破坏性。这种新的变异扩展了TUBB8突变的范围，TUBB8突变的存在被认为是辅助生殖治疗成功预后不良的指示。
Tubulin beta eight class VIII (TUBB8) is a subtype of -tubulin that only exists in primates. Mutations in the TUBB8 gene have been proven to cause oocyte maturation arrest. The aim of this study was to identify the new types of mutations in TUBB8. Six women (families) with oocyte maturation arrest and 100 healthy controls were recruited. The sequence of the TUBB8 gene was amplified and analyzed by Sanger sequencing, which revealed a de novo heterozygous variant c.292G>A (p.G98R) of TUBB8 in one affected individual. This TUBB8 variant was absent in the 100 fertile females and was predicted to be highly damaging to the function of the TUBB8 protein by SIFT and PolyPhen-2. This novel variant extends the spectrum of TUBB8 mutations and the presence of a TUBB8 mutation is being considered to be indicative of a poor prognosis for the success of assisted reproductive treatment.