载脂蛋白 E 密码子 112 多态性与复发性流产有关吗？
Is apolipoprotien E codon 112 polymorphisms associated with recurrent pregnancy loss?
机构信息
EUROFERTIL Reproductive Health Center, Istanbul, Turkey.
出版信息
Am J Reprod Immunol. 2010 Aug 1;64(2):87-92. doi: 10.1111/j.1600-0897.2010.00814.x. Epub 2010 Feb 17.
PROBLEM
To compare the prevalence of 112T>C point mutations among women experiencing RPL with fertile control women.
METHOD OF STUDY
Buccal swabs were obtained from 232 individuals: 136 with a history of >or=2 abortions, 37 with at least 2 live births and 59 with a history of deep vein thrombosis (DVT). DNA was extracted and PCR amplification of Apo E codons was performed.
RESULTS
The allelic frequency of a cytosine at position 112 was 11.4% (31/272) among patients experiencing RPL, compared with a frequency of 5.4% (4/74) among the fertile controls (P = 0.19) and 19.5% (23/118) among individuals with a history of DVT. However, significantly more E3/E4 and E4/E4 genotypes were seen among individuals experiencing RPL and DVT than fertile controls (P < 0.05).
CONCLUSION
Apo E4 codon 112C point mutation is, by itself, not associated with an elevated risk of recurrent pregnancy loss, but rather codon 112C in association with codon 158C is a risk factor for RPL.
问题
比较经历 RPL 的女性与生育控制女性中 112T>C 点突变的患病率。
研究方法
从 232 个人中获得口腔拭子：136 人有>或=2 次流产史，37 人至少有 2 次活产，59 人有深静脉血栓形成（DVT）史。提取 DNA 并进行 Apo E 密码子的 PCR 扩增。
结果
经历 RPL 的患者中，112 位胞嘧啶的等位基因频率为 11.4%（31/272），与生育控制组的 5.4%（4/74）相比（P=0.19），以及有 DVT 病史的个体中 19.5%（23/118）。然而，与生育控制组相比，经历 RPL 和 DVT 的个体中 E3/E4 和 E4/E4 基因型明显更多（P<0.05）。
结论
Apo E 密码子 112C 点突变本身并不与复发性妊娠丢失的风险增加相关，但密码子 112C 与密码子 158C 一起是 RPL 的危险因素。
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