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首页> 外文期刊>Gynecological endocrinology: the official journal of the International Society of Gynecological Endocrinology >Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation
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Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation

机译：卵母细胞成熟中血管生效性患者毒性妇女的突变分析

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Tubulin beta eight class VIII {TUBB8) is a subtype of p-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.
机译：管蛋白β8载体VIII {tubb8）是仅在灵长类动物中仅存在的p-管蛋白的亚型。 已经证明了upbB8基因中的突变导致卵母细胞成熟捕获。 本研究的目的是识别TubB8中的新类型的突变。 招募了六个女性（家庭）患有卵母细胞成熟逮捕和100种健康对照。 通过Sanger测序扩增并分析了uchB8基因的序列，并在一个受影响的个体中揭示了De Novo杂合子变体C.992g> A（p.G98R）。 在100种肥沃的女性中，该穴位变体不存在，预计通过SIFT和Polyphen-2对TubB8蛋白的功能非常损害。 该新型变型延伸了TubB8突变的光谱，并且抑制毒物突变的存在表明辅助生殖治疗成功的预后差。

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