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关于凝血因子 XIII Val34Leu、糖蛋白(GP)Ibalpha Kozak 以及 P-选择素糖蛋白配体 1(PSGL-1)基因座的土耳其人群数据。

Turkish population data on the factor XIII Val34Leu,glycoprotein (GP)Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) loci.

作者信息

Hancer Veysel Sabri, Diz-Kucukkaya Reyhan, Nalcaci Meliha

机构信息

Division of Hematology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

出版信息

Cell Biochem Funct. 2005 Jan-Feb;23(1):55-8. doi: 10.1002/cbf.1150.

Abstract

We determined the allele and genotype frequencies of three PCR-based gene polymorphisms factor XIII (FXIII) Val34Leu, glycoprotein (GP) Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) in the Turkish population (n = 126 for FXIII Val34Leu, n = 110 for GPIbalpha Kozak and n = 203 for PSGL-1). To detect these polymorphisms, DNA was extracted from venous blood. Genomic DNA samples were replicated and analysed by a polymerase chain reaction (PCR) method. PCR products were digested by restriction endonuclease enzymes for FXIII Val34Leu and GPIbalpha Kozak. PSGL-1 was analysed by variable number of tandem repeats (VNTR). Allele frequencies of V (Val) and L (Leu) were found to be 0.805 and 0.195 respectively for the FXIII Val34Leu polymorphism. No significant difference was observed between French and Turkish populations for FXIII Val34Leu. Allele frequencies of T and C were calculated to be 0.873 and 0.127 for the GPIbalpha Kozak polymorphism and no significant difference was found between Turkish and French populations. In contrast, the difference between Turkish and Japanese populations was statistically significant (p<0.0001). In the PSGL-1 group, allele frequencies of A, B and C were calculated as 0.818, 0.160, 0.022 respectively. For the PSGL-1, although the difference between Turkish and French populations was not significant, the difference between the Turkish and Japanese was extremely significant (p<0.0001). In conclusion, a Turkish population database has been established for three gene polymorphisms.

摘要

我们测定了土耳其人群中基于聚合酶链反应(PCR)的三种基因多态性的等位基因和基因型频率,分别是凝血因子 XIII(FXIII)Val34Leu、糖蛋白(GP)Ibalpha Kozak 和 P-选择素糖蛋白配体 1(PSGL-1)(FXIII Val34Leu 组 n = 126,GPIbalpha Kozak 组 n = 110,PSGL-1 组 n = 203)。为检测这些多态性,从静脉血中提取 DNA。基因组 DNA 样本经复制后采用聚合酶链反应(PCR)方法进行分析。FXIII Val34Leu 和 GPIbalpha Kozak 的 PCR 产物用限制性内切酶消化。PSGL-1 采用可变串联重复序列(VNTR)进行分析。对于 FXIII Val34Leu 多态性,V(Val)和 L(Leu)的等位基因频率分别为 0.805 和 0.195。法国人和土耳其人在 FXIII Val34Leu 方面未观察到显著差异。对于 GPIbalpha Kozak 多态性,T 和 C 的等位基因频率经计算分别为 0.873 和 0.127,土耳其人和法国人之间未发现显著差异。相比之下,土耳其人和日本人之间的差异具有统计学意义(p<0.0001)。在 PSGL-1 组中,A、B 和 C 的等位基因频率经计算分别为 0.818、0.160、0.022。对于 PSGL-1,虽然土耳其人和法国人之间的差异不显著,但土耳其人和日本人之间的差异极其显著(p<0.0001)。总之,已建立了一个包含三种基因多态性的土耳其人群数据库。

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