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首页> 外文期刊>Prenatal Diagnosis >The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss
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The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss

机译：在墨西哥反复磨牙妊娠的患者中，NLRP7基因中的p.L750V突变很常见，并且与复发性流产无关

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Objective The aim of this study is to analyze NLRP7 mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs). Patients Twenty patients with RHMs, 50 couples with recurrent pregnancy loss (RPL), and 100 controls were included in the study. Molecular analysis of the NLRP7 coding region was performed in patients with RHMs. Restriction enzyme digestion analysis and direct sequencing of the identified mutations were performed in controls and patients with RPL. Results Patients displayed between two and six moles, and 10 of them presented other forms of pregnancy loss. Twelve (60%) patients were homozygous for the missense mutation c.2248C>G (p.L750V), five (25%) patients were heterozygous for the p.L750V mutation and the c.1018G>A (p.E340K) variant, and three (15%) patients were heterozygous for the c.1018G>A (p.E340K) variant. Five (5%) control women and four women and one man (5%) with RPL were heterozygous for the p.L750V mutation and two (2%) patients with RPL were heterozygous for the p.E340K variant. Conclusions A total of 60% of our RHM patients presented homozygous p.L750V mutations, 25% were compound heterozygotes for p.L750V mutation and the p.E340K variant, and 15% were heterozygous for p.E340K variant. Heterozygous p.L750V mutations were frequently observed in our population. Homozygous mutations were also present in patients with RHMs. Additional studies are needed to understand the role of the p.E340K variant in RHMs and RPL. (c) 2013 John Wiley & Sons, Ltd.
机译：目的本研究旨在分析20例墨西哥复发性葡萄胎（RHM）患者的NLRP7突变频率。患者本研究包括20例RHM，50例反复妊娠流产（RPL）和100例对照。对具有RHM的患者进行了NLRP7编码区的分子分析。在对照组和RPL患者中进行限制性酶切分析和已鉴定突变的直接测序。结果患者出现2至6颗痣，其中10例出现其他形式的流产。 12名（60％）患者的错义突变为c.2248C> G（p.L750V）纯合，五名（25％）患者的p.L750V突变为纯合子，而c.1018G> A（p.E340K）变异为纯合子，其中三名（15％）患者的c.1018G> A（p.E340K）变异体是杂合的。 5名（5％）对照女性，4名女性和1名男性（5％）的p.L750V突变是杂合的，而2名（2％）的RPL患者的p.E340K变异是杂合的。结论我们共有60％的RHM患者呈现p.L750V突变纯合子，其中25％是p.L750V突变和p.E340K变异体的复合杂合子，15％是p.E340K变异体的杂合子。在我们的人群中经常观察到杂合p.L750V突变。 RHM患者中也存在纯合突变。需要其他研究来了解p.E340K变体在RHM和RPL中的作用。 （c）2013 John Wiley＆Sons，Ltd.

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