Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure
Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure
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WEE2 的新突变：扩大导致人类受精失败的突变谱
DOI：
10.1111/cge.13505
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发表时间：
2019-04-01
影响因子：
3.5
通讯作者：
Sang, Qing
中科院分区：
文献类型：
--
作者：
Zhang, Zhihua;Mu, Jian;Sang, Qing
成功的受精是有性生殖的基础。在经历了一系列的分子和形态学变化后，单倍体精子与单倍体卵母细胞融合产生二倍体合子。这一过程的缺陷可能导致人类受精失败。我们之前已经发现了导致人类受精失败的WEE 2纯合突变，但人类受精失败的遗传基础需要进一步研究。在本研究中，我们在一个新的受精失败患者队列中筛查WEE2突变。通过对WEE 2外显子的桑格测序，我们从6名受影响的个体中鉴定了7个新的WEE 2突变和2个已报道的突变。形态学正常的PB1卵母细胞可以从所有患者中获得。然而，大多数卵母细胞不能成功受精。这些发现证实了我们之前的研究，并扩大了WEE 2的突变谱，使其成为人类受精失败患者的潜在遗传诊断标记。
Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations in WEE2 that are responsible for human fertilization failure, but the genetic basis of human fertilization failure requires further investigation. In the present study, we screened for WEE2 mutations in a new cohort of patients with fertilization failure. Through Sanger sequencing of WEE2 exons, we identified seven novel mutations and two reported mutations in WEE2 from six affected individuals. Morphologically normal PB1 oocytes can be retrieved from all patients. However, most of the oocytes cannot be fertilized successfully. These findings confirmed our previous research and expanded the mutational spectrum of WEE2, making it a potential genetic diagnostic marker for those suffering from human fertilization failure.