Sadikova Sh E, Karimov Kh Ia, Muminov Sh M, Tulakov R P, Boboev K T
Tsitol Genet. 2008 Nov-Dec;42(6):50-4.
The prevalence of mutations of the genes of the coagulation factor V (G1691A), the coagulation factor II (G20210A), and of MTHFR (C677T) was investigated in patients with deep vein thrombosis of lower extremities (DVT) and healthy people of Uzbek nationality. The following prevalence of the mutant alleles among patients in Uzbekistan was revealed: for factor V Leiden--12,9%, prothrombin--4%, MTHFR--47,8%. The mutant allele of C677T gene (47,8%) was highly expressed in patients with DVT. It was revealed that the mutation of MTHFR gene was more common among female patients with DVT than in male patients with DVT. In Uzbek population the mutation G20210A of the prothrombin gene was detected rarely than the mutations of MTHFR and factor Leiden. The penetrance and the role of these mutations in the development of the thrombosis of deep veins were studied.
对乌兹别克族下肢深静脉血栓形成（DVT）患者和健康人群进行了凝血因子V基因（G1691A）、凝血因子II基因（G20210A）以及亚甲基四氢叶酸还原酶（MTHFR，C677T）基因突变的患病率调查。结果显示，乌兹别克斯坦患者中突变等位基因的患病率如下：凝血因子V莱顿突变型为12.9%，凝血酶原突变型为4%，MTHFR突变型为47.8%。C677T基因的突变等位基因（47.8%）在DVT患者中高表达。研究发现，MTHFR基因突变在女性DVT患者中比男性DVT患者更为常见。在乌兹别克人群中，凝血酶原基因G20210A突变的检出率低于MTHFR和凝血因子莱顿突变。对这些突变在深静脉血栓形成中的外显率和作用进行了研究。
