| 摘要: |
| 目的:检测青海高原地区不同海拔藏汉民族子痫前期(PE)患者人类白细胞抗原-G(HLA-G)5’上游调控区(5-URR)的基因多态性及血浆可溶性HLA-G(s HLA-G)与PE的关系。方法:选择汉族PE患者(汉族PE组)87例、汉族正常妊娠妇女(汉族正常组)101例、藏族PE患者(藏族PE组)52例、藏族正常妊娠妇女(藏族正常组)108例为研究对象,采用全血基因DNA提取、聚合酶联反应技术(PCR)、琼脂糖电泳及测序方法检测4组HLA-G5-URR基因SNP位点,对检测到的位点进行等位基因及基因型分型的比较。酶联免疫吸附法(Elisa)检测各组30例血浆中s HLA-G蛋白浓度,并分析HLA-G基因5-URR区域差异性分布的SNP位点多态性对s HLA-G表达的影响。结果:(1)HLA-G基因5-URR区域检测到6个SNP,分别为+124位点、+250位点、+274位点、+289位点、+308位点及+465位点,其中+274位点基因型和等位基因频率在汉族正常组与汉族PE组的差异有统计学意义(基因型P=0.007;等位基因频率P=0.006);+289位点基因型的分布在汉族正常组与藏族正常组、汉族PE组与藏族PE组间差异有统计学意义(P=0.010;P=0.002);+289位点等位基因频率在汉族PE组与藏族PE组间差异有统计学意义(P=0.003)。(2)汉族正常组、汉族PE组、藏族正常组、藏族PE组的s HLA-G蛋白浓度分别为2.63±0.88 ng/L、1.77±0.44 ng/L、2.27±0.57 ng/L、1.44±0.51 ng/L,4组间两两比较,差异均有统计学意义(P<0.05)。(3)HLA-G基因5-URR区域+274位点和+289位点的3种基因型AA、AG、GG在4组内的s HLA-G蛋白表达水平比较,差异均无统计学意义(P>0.05)。结论:HLA-G基因5-URR+274位点和+289位点的多态性可能与PE的易感性有关,尤其是+289位点的基因多态性可能是导致青海地区藏族人群易患PE的因素之一。高原慢性低氧环境可能影响s HLA-G蛋白的表达,可能参与了青海高原地区PE的发生;不能完全排除HLA-G基因5-URR多态性与HLA-G蛋白表达的关系。 |
| 关键词: 青海高原地区 藏汉民族 子痫前期 人类白细胞抗原-G 可溶性人类白细胞抗原-G |
| DOI： |
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| 基金项目:青海省(应用)基础研究计划项目(编号:2013-Z-736) |
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| HLA-G5-URR Polymorphism and Plasma Soluble HLA-G of Preeclampsia at Tibetan and Han Nationalities in Qinghai Area |
| XIE Yingying;ZHAO Haining;PEI Qingqing |
| (Affiliated Hospital of Qinghai University) |
| Abstract: |
| Objective: To investigate the pathogenesis of preeclampsia( PE) in Tibetan and Han nationalities through testing the gene polymorphism in 5’-upstream regulatory region( 5’URR) of Human Leukocyte Antigen-G( HLA-G) and the plasma soluble human leucocyte antigen G( s HLA-G).Methods: Extraction of whole blood DNA gene,polymerase chain reaction( PCR),agarose gel electrophoresis and sequencing were used to detect the single nucleotide polymorphism( SNP) of 5-URR of HLA-G gene in 87 Han and 52 Tibetan with PE and 101 Han and108 Tibetan controls.Then the allele and genotype frequencies of SNPs were analysed.The s HLA-G protein in 30 plasma cases of each group was detected by enzyme-linked immunosorbent assay( Elisa).Results:(1)6 SNPs were detected: +124 locus、+250 locus、+274 locus、+289 locus、+308 locus and +465 locus.Genotype distribution and allele frequency of +274 locus had significant difference between control group and PE group of Han nationality( Genotype P=0. 007; Allele frequency P=0. 006); The genotype distribution of +289 locus had significant difference between normal groups of Tibetan and Han nationalities( P = 0. 010),and PE groups of this two nationalities,too( P = 0. 002); The allele frequency of +289 locus had significant difference between PE groups of Han nationality and Tibetan( P = 0. 003).(2)The concentration of s HLA-G protein in control and PE group of Han nationality,and control and PE groups of Tibetan were 2. 63±0. 88 ng/L、1. 77±0. 44 ng/L、2. 27±0. 57 ng/L、1. 44±0. 51 ng/L,respectively. The paired comparison in the 4 groups had significant differences( P < 0. 05).(3) In the four groups,there were no significant differences in the expression of s HLA-G protein in AA,AG and GG genotypes at +274 locus and +289 locus of the HLA-G gene 5-URR( P>0. 05).Conclusions: The polymorphism of +274 locus and +289 locus in 5-URR of HLA-G gene may be related to the susceptibility to PE,especially the polymorphism of +289 locus in Qinghai Tibetan population; The chronic hypoxic environment in the plateau area may affect the expression of s HLA-G protein,participating in the pathogenesis of PE in Qinghai plateau; It cannot be completely ruled out that the relationship between polymorphism of HLA-G 5-URR and the expression of HLA-G protein. |
| Key words: QinghaiPlateau TibetanandHan Preeclampsia Humanleukocyteantigen-G PlasmasolublehumanleucocyteantigenG |
