纤维蛋白原基因座的遗传变异与血浆纤维蛋白原水平
Genetic variation at fibrinogen loci and plasma fibrinogen levels.
作者信息
Connor J M, Fowkes F G, Wood J, Smith F B, Donnan P T, Lowe G D
机构信息
University Department of Medical Genetics, Duncan Guthrie Institute, Yorkhill, Glasgow.
出版信息
J Med Genet. 1992 Jul;29(7):480-2.
In view of the controversy regarding genetic variation at the fibrinogen loci and plasma fibrinogen levels, we have analysed DNA polymorphisms at the alpha (TaqI), beta (BclI and HaeIII), and gamma (KpnI/SacI) fibrinogen loci in 247 subjects whose plasma fibrinogen was determined by clotting and nephelometric assays. Strong linkage disequilibrium was found between the alpha/TaqI and gamma/KpnI/SacI markers and between the beta/BclI and beta/HaeIII markers. A lesser association was found between the alpha/TaqI and beta/BclI loci, beta/BclI and gamma/KpnI/SacI markers, alpha/TaqI and beta/HaeIII markers, and the gamma/KpnI/SacI and beta/HaeIII markers. This is consistent with the known physical order of these loci and suggests a relative excess of recombination in the alpha/gamma to beta interval. Plasma fibrinogen levels, by either assay method, when corrected or uncorrected for age, sex, and smoking habit, did not show any statistically significant associations with the four fibrinogen polymorphisms examined at the alpha, beta, and gamma fibrinogen loci either singly or when analysed as a haplotype.
鉴于纤维蛋白原基因座的基因变异与血浆纤维蛋白原水平存在争议，我们分析了247名受试者α（TaqI）、β（BclI和HaeIII）和γ（KpnI/SacI）纤维蛋白原基因座的DNA多态性，这些受试者的血浆纤维蛋白原通过凝血和比浊法测定。在α/TaqI与γ/KpnI/SacI标记之间以及β/BclI与β/HaeIII标记之间发现了强连锁不平衡。在α/TaqI与β/BclI基因座、β/BclI与γ/KpnI/SacI标记、α/TaqI与β/HaeIII标记以及γ/KpnI/SacI与β/HaeIII标记之间发现的关联较弱。这与这些基因座已知的物理顺序一致，并表明在α/γ至β区间内重组相对过量。无论采用哪种测定方法，校正或未校正年龄、性别和吸烟习惯的血浆纤维蛋白原水平，与在α、β和γ纤维蛋白原基因座单独检测或作为单倍型分析的四种纤维蛋白原多态性均未显示任何统计学上的显著关联。
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