Huang Lingli, Tong Xianhong, Luo Lihua, Zheng Shengxia, Jin Rentao, Fu Yingyun, Zhou Guixiang, Li Daojing, Liu Yusheng
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei, 230001 Anhui, China.
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei, 230001 Anhui, China.
Reprod Biomed Online. 2017 Sep;35(3):305-310. doi: 10.1016/j.rbmo.2017.05.017. Epub 2017 Jun 13.
Mutations in the tubulin beta 8 class VIII (TUBB8) gene have been proven to cause oocyte maturation arrest. The aim of this study was to describe newly discovered mutations in TUBB8 and to investigate the prevalence of TUBB8 mutations in our cohort. Nine women with oocyte maturation arrest and 100 fertile female controls were recruited. Sanger sequencing of the coding regions of TUBB8 revealed a heterozygous variant c.535G > A (p.V179M) in two unrelated affected individuals and a heterozygous variant c.5G > T (p.R2M) in one affected individual. These TUBB8 variants were inherited from the unaffected fathers and were absent in 100 fertile female control individuals. In total, 33.33% (3/9) of the affected individuals in our cohort obtained a clear genetic diagnosis through sequencing of the TUBB8 gene. These two novel variants extend the spectrum of TUBB8 mutations and this study confirmed that TUBB8 mutations occur in a high proportion of infertile women with oocyte maturation arrest.
已证实微管蛋白β8 VIII类（TUBB8）基因的突变会导致卵母细胞成熟停滞。本研究的目的是描述新发现的TUBB8突变，并调查我们队列中TUBB8突变的发生率。招募了9名卵母细胞成熟停滞的女性和100名可育女性对照。对TUBB8编码区进行Sanger测序，在两名无亲缘关系的受影响个体中发现了一个杂合变异c.535G＞A（p.V179M），在一名受影响个体中发现了一个杂合变异c.5G＞T（p.R2M）。这些TUBB8变异是从未受影响的父亲遗传而来，在100名可育女性对照个体中未出现。在我们的队列中，总共33.33%（3/9）的受影响个体通过TUBB8基因测序获得了明确的基因诊断。这两个新变异扩展了TUBB8突变谱，本研究证实TUBB8突变在高比例的卵母细胞成熟停滞的不孕女性中出现。
