Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction
Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction
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DOI：
10.1016/s0301-2115(00)00540-6
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发表时间：
2001-08-01
期刊：
影响因子：
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通讯作者：
Odendaal, HJ
中科院分区：
文献类型：
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作者：
Gebhardt, GS;Scholtz, CL;Odendaal, HJ
目的：本研究旨在探讨胎盘早剥和宫内生长受限 (IUGR) 患者中 MTHFR 基因突变 C677T 和 A1298C 与血管疾病的关系。研究设计：从 54 名胎盘血管病患者（18 名胎盘早剥患者和 36 名 IUGR 患者）和 114 名对照患者的血液样本中提取 DNA，并通过聚合酶链反应 (PCR) 进行扩增。对所得片段进行限制酶分析并通过凝胶电泳进行解析。结果：A 1298C 突变与胎盘早剥和 IUGR 之间存在显着关联。在 22.2% 的胎盘早剥病例中检测到突变 C677T 和 A1298C 的组合杂合性。结论：MTHFR 突变 C677T 和 A1298C 的组合杂合性可能代表胎盘早剥的遗传标记。 (C) 2001 Elsevier Science Ireland Ltd. 保留所有权利。
Objective: This study was undertaken to investigate the involvement of MTHFR gene mutations C677T and A1298C implicated in vascular disease, in patients with abruptio placentae and intrauterine growth restriction (IUGR). Study Design: DNA was extracted from blood samples of 54 patients with placental vasculopathy (18 patients with abruptio placentae and 36 with IUGR) and 114 control patients and amplified by the polymerase chain reaction (PCR). The resulting fragments were subjected to restriction enzyme analysis and resolved by gel electrophoresis. Results: A significant association could be demonstrated between mutation A 1298C and both-abruptio placentae and IUGR. Combined heterozygosity for mutations C677T and A1298C was detected in 22.2% of abruptio placentae cases. Conclusions: Combined heterozygosity for MTHFR mutations C677T and A1298C may represent a genetic marker for abruptio placentae. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.