Reproductive Medicine Centre, Malmö University Hospital, Malmö, Sweden.
Fertil Steril. 2010 Jan;93(1):277-9. doi: 10.1016/j.fertnstert.2009.07.984. Epub 2009 Sep 17.
The aim of this study was to determine whether total fertilization failure in human IVF can be partially explained by alterations in the gene that codes for protein C inhibitor. Forty-six men had IVF total fertilization failure and 51 controls with normal fertilization were screened for mutations in the protein C inhibitor gene by direct sequencing. The main finding was that in men involved in total fertilization failure, a heterozygous adenosine/guanine (A/G) base combination in position 1389 (rs2069990) (exon 6) in the protein C inhibitor gene was significantly more common compared with controls (10.9% vs. 0).
这项研究的目的是确定在人类体外受精中是否总受精失败可以部分归因于编码蛋白 C 抑制剂的基因发生改变。46 名男性患者经历了体外受精总受精失败,51 名正常受精的对照者通过直接测序筛选蛋白 C 抑制剂基因中的突变。主要发现是,在总受精失败的男性中,蛋白 C 抑制剂基因第 1389 位(外显子 6)的腺嘌呤/鸟嘌呤(A/G)碱基组合(rs2069990)杂合子的情况明显比对照者更常见(10.9%比 0)。