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Abstract：
Abnormalities in sperm nuclei and chromatin can interfere with normal fertilization, embryonic development, implantation, and pregnancy. We aimed to study the impact of H2BFWT gene variants in sperm DNA on ICSI outcomes in couples undergoing ART treatment. One hundred and nineteen partners were divided into pregnant (G1) and non-pregnant (G2) groups. After semen analysis, complete DNA was extracted from purified sperm samples. The sequence of the H2BFWT gene was amplified by PCR and then subjected to Sanger sequencing. The results showed that there are three mutations in this gene: rs7885967, rs553509, and rs578953. Significant differences were shown in the distribution of alternative and reference alleles between G1 and G2 (p = 0.0004 and p = 0.0020, respectively) for rs553509 and rs578953. However, there was no association between these SNPs and the studied parameters. This study is the first to shed light on the connection between H2BFWT gene variants in sperm DNA and pregnancy after ICSI therapy. This is a pilot study, so further investigations about these gene variants at the transcriptional and translational levels will help to determine its functional consequences and to clarify the mechanism of how pregnancy can be affected by sperm DNA.
摘要：
精子核和染色质异常会干扰正常受精，胚胎发育,植入,和怀孕。我们旨在研究精子DNA中H2BFWT基因变异对接受ART治疗的夫妇ICSI结局的影响。将119名伴侣分为怀孕（G1）和非怀孕（G2）组。经过精液分析,从纯化的精子样本中提取完整的DNA。通过PCR扩增H2BFWT基因的序列,然后进行Sanger测序。结果表明，该基因存在三个突变：rs7885967、rs553509和rs578953。对于rs553509和rs578953,在G1和G2之间的替代和参考等位基因的分布中显示出显著差异(分别为p=0.0004和p=0.0020)。然而,这些SNP与研究参数之间没有关联.这项研究首次揭示了ICSI治疗后精子DNA中H2BFWT基因变异与妊娠之间的联系。这是一项试点研究，因此，在转录和翻译水平上对这些基因变异的进一步研究将有助于确定其功能后果，并阐明精子DNA如何影响妊娠的机制。
