Infertility due to Lack of Zona Pellucida Caused by a Compound Heterozygous Mutation in ZP1 Gene
Infertility due to Lack of Zona Pellucida Caused by a Compound Heterozygous Mutation in ZP1 Gene
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DOI：
10.4103/2096-2924.248486
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发表时间：
2018-07-01
影响因子：
0.8
通讯作者：
Wei He
中科院分区：
文献类型：
--
作者：
Zheng Zhang;Tao Shangguan;Wei He
卵清带缺失是卵母细胞成熟障碍的表现之一。近年来，遗传因素作为ZP异常的可能原因受到了广泛关注。在这项研究中，我们报告了一种以缺乏ZP的异常卵子为特征的原发性不孕症，这是由ZP1的复合杂合常染色体隐性突变引起的。这是首次报道的复合杂合突变，我们的研究结果可能扩大ZP基因已知突变的范围，并在遗传咨询中提供卵母细胞成熟障碍的证据。
Lack of the zona pellucida (ZP) is one of the manifestations of an oocyte maturation disorder. In recent years, genetic factors have attracted much attention as a possible cause of ZP anomalies. In this study, we report a form of primary infertility characterized by abnormal eggs that lack the ZP, which resulted from a compound heterozygous autosomal recessive mutation in ZP1. This compound heterozygous mutation has been reported for the first time, and our results may expand the spectrum of known mutations in ZP genes and provide evidence of oocyte maturation disorders during genetic counseling.