伊朗西北部莱顿因子 V G1691A 和凝血因子 II G20210A 点突变与妊娠。

Factor V Leiden G1691A and factor II G20210A point mutations and pregnancy in North-West of Iran.

机构信息

Genetics Department, Urmia University of Medical Sciences, Urmia, Iran.

出版信息

Arch Gynecol Obstet. 2011 Nov;284(5):1311-5. doi: 10.1007/s00404-011-2008-5. Epub 2011 Jul 20.

DOI:10.1007/s00404-011-2008-5

PMID:21773779

Abstract

PURPOSE

The roles of several hereditary predispositions for venous thromboembolism have been evaluated in women with habitual abortion. We studied the prevalence of FV Leiden G1691A and FII G20210A mutations in women with habitual abortion and healthy controls.

METHODS

60 unrelated fertile females, as controls, and 70 unrelated women with at least three consecutive pregnancy losses entered at the present study. MAS-PCR was carried out for detection of FV Leiden G1691A and FII G20210A mutations.

RESULTS

FV Leiden G1691A mutation was not found in the studied cases and controls, that is, all of the cases and the controls had normal FV Leiden 1691GG genotype. FII 20210AA genotype was not found in any of patients or controls. 2.5% of alleles (3 out of 120 chromosomes) in controls and 15.714% of alleles (22 out of 140 chromosomes) in cases had FII 20210A mutation. The FII G20210A allele frequency was 0.157 in cases and 0.025 in controls. Regarding FII G20210A mutation, the distribution of GG, GA and AA genotypes were 48 (68.57%), 22 (31.43%) and 0 (0%) in the cases and 95 (95%), 5 (5%) and 0 (0%) in the controls, respectively. Significant differences in both FII G20210A alleles and FII G20210A genotypes frequencies were observed in the cases versus the controls.

CONCLUSION

FII G20210A mutation is significantly associated with habitual abortion.

摘要

目的

已经评估了几种遗传性易栓倾向在习惯性流产妇女中的作用。我们研究了习惯性流产妇女和健康对照组中 FV Leiden G1691A 和 FII G20210A 突变的流行情况。

方法

本研究纳入了 60 名无亲缘关系的生育能力正常的女性作为对照组，以及 70 名至少有 3 次连续妊娠丢失的无亲缘关系的女性。MAS-PCR 用于检测 FV Leiden G1691A 和 FII G20210A 突变。

结果

研究病例和对照组均未发现 FV Leiden G1691A 突变，即所有病例和对照组均为正常的 FV Leiden 1691GG 基因型。患者或对照组均未发现 FII 20210AA 基因型。对照组中 2.5%（3/120 条染色体）的等位基因和病例组中 15.714%（22/140 条染色体）的等位基因存在 FII 20210A 突变。病例组中的 FII G20210A 等位基因频率为 0.157，对照组中的为 0.025。关于 FII G20210A 突变，病例组中 GG、GA 和 AA 基因型的分布分别为 48（68.57%）、22（31.43%）和 0（0%），对照组中分别为 95（95%）、5（5%）和 0（0%）。病例组和对照组在 FII G20210A 等位基因和 FII G20210A 基因型频率方面均存在显著差异。