CARI Reproductive Institute, Chicago, IL, USA.
Am J Reprod Immunol. 2009 Dec;62(6):365-70. doi: 10.1111/j.1600-0897.2009.00744.x. Epub 2009 Oct 11.
To determine whether the ACE D/D genotype or the combination of PAI-1 4G/4G and ACE D/D genotypes may serve as a risk factor for recurrent pregnancy loss.
Buccal swabs were obtained from 120 women experiencing recurrent pregnancy loss and from 84 fertile control women. DNA was extracted from the buccal swab samples using the Qiagen DNA Mini Kit (Qiagen), followed by multiplex polymerase chain reaction (PCR). PCR products were analyzed for the ACE gene polymorphism, which consists of the insertion or deletion (I/D) of a 287-bp fragment in intron 16, and the PAI-1 4G/4G genotype.
No significant differences in specific ACE gene mutations were observed when patients experiencing recurrent miscarriage were compared with control women. When the frequencies of homozygous mutations for ACE D/D and PAI-I 4G/4G were compared between recurrent aborters and controls, again no significant differences in the prevalence of the combination of these gene mutations were noted.
Homozygosity for the D allele of the ACE gene and the combination of the D/D genotype with two 4G alleles of the PAI-1 promoter gene are not associated with a significant increase in the risk of recurrent miscarriage.
确定 ACE D/D 基因型或 PAI-1 4G/4G 和 ACE D/D 基因型的组合是否可能作为复发性妊娠丢失的风险因素。
从 120 名经历复发性妊娠丢失的女性和 84 名生育力正常的对照组女性中获取颊拭子样本。使用 Qiagen DNA Mini Kit（Qiagen）从颊拭子样本中提取 DNA，然后进行多重聚合酶链反应（PCR）。分析 ACE 基因多态性的 PCR 产物，该多态性由内含子 16 中 287-bp 片段的插入或缺失（I/D）和 PAI-1 4G/4G 基因型组成。
与对照组女性相比，经历复发性流产的患者中特定 ACE 基因突变无显著差异。当比较复发性流产者和对照组中 ACE D/D 和 PAI-I 4G/4G 纯合突变的频率时，也未发现这些基因突变组合的发生率有显著差异。
ACE 基因 D 等位基因的纯合性和 PAI-1 启动子基因的 D/D 基因型与两个 4G 等位基因的组合与复发性流产风险的显著增加无关。
