裕固族、藏族和汉族人群ICAM-1基因K469E、K56M多态性对血浆sICAM-1水平的影响
发布时间：2018-11-11 18:42
【摘要】：目的：检测裕固族、藏族和汉族人群血液中ICAM-1基因K469E(A/G,rs5498)和K56M(A/T,rs5491)多态性和血浆中sICAM-1水平,比较分析其基因型和等位基因频率在三个民族人群中的分布,探讨ICAM-1基因两个位点多态性与血浆中sIC AM-1水平的相关性。 方法：采集327例裕固族、400例藏族及126例汉族人群外周静脉血,EDTA抗凝,采用大量全血基因组DNA提取试剂盒提取DNA,以PCR-RFLP进行DNA多态性分析,琼脂糖凝胶电泳后在凝胶扫描成像系统下判断基因型,DNA测序确定基因序列,进行比较ICAM-1基因型和等位基因频率在三个民族群体中的分布,通过Hardy-Weinberg遗传平衡定律检验群体代表性。采用人ICAM-1ELISA试剂盒检测各民族血浆中sICAM-1水平。 结果：DNA测序与PCR-RFLP分析结果一致。本实验检测到三个民族人群ICAM-1基因K469E位点的KK、KE、EE三种基因型分布差异没有统计学意义,而K、E等位基因频率分布的差异有统计学意义(P0.05)；裕固族和藏族分别与汉族群体之间的基因型和等位基因频率分布差异都有统计学意义(P0.05)；该位点含K等位基因个体(253.409±122.547,185.061±97.063gg/L)的血浆sICAM-1水平高于不含K等位基因的个体(145.151±110.961μg/L),三种基因型的相应血浆水平之间差异有显著统计学意义(P0.01)。K56M位点在三个民族中只检测出KK、KM两种基因型,尚未检测到MM型；两种基因型和K、M等位基因频率分布在裕固族与汉族群体之间差异有统计学意义(P0.05)；该位点含KK型的个体的血浆sICAM-1水平(253.409±122.547μg/L)高于KM型的个体(168.350±103.630μg/L),差异有显著统计学意义(P0.01)。三个民族群体ICAM-1基因型和等位基因频率无明显性别比例和年龄分布差异,分布符合Hardy-Weinberg遗传平衡定律(P0.05)。裕固族和藏族群体血浆中sICAM-1水平(224.418±80.950,214.298±111.508μg/L)高于汉族群体(175.063±125.266μg/L),三个民族之间差异有统计学意义(P0.05),两两比较示裕固族与汉族群体血浆中sICAM-1水平差异有显著统计学意义(P0.01),藏族与汉族群体差异也有统计学意义(P0.05)。 结论：裕固族、藏族和汉族人群的ICAM-1K469E和K56M两个位点多态性基因型和等位基因均以KK/KE型、KK型和K等位基因为主,且裕固族和藏族的高于汉族,分布具有群体代表性。ICAM-1基因K469E和K56M多态性影响血浆中sICAM-1水平。K469E的K等位基因可能是某些高原相关疾病的遗传危险因素,而K56M的M等位基因可能是其遗传保护因素。ICAM-1基因多态性可能与不同海拔高度和不同民族的易患疾病的易感性相关。
[Abstract]:Objective: to detect the polymorphisms of ICAM-1 gene K469E (A / G rs5498) and K56M (A / T rs5491) and the level of sICAM-1 in plasma of Yugur, Tibetan and Han nationality. To investigate the relationship between the polymorphism of ICAM-1 gene and the level of sIC AM-1 in plasma, the distribution of genotype and allele frequency in the three ethnic groups was compared and analyzed. Methods: peripheral venous blood was collected from 327 Yugur nationality, 400 Tibetan and 126 Han nationality, and EDTA anticoagulant was used to extract DNA, by using a large number of whole blood genomic DNA extraction kit to analyze the DNA polymorphism of PCR-RFLP. After agarose gel electrophoresis, genotypes were determined by gel scanning imaging system, and gene sequences were sequenced by DNA. The distribution of ICAM-1 genotypes and alleles in the three ethnic groups was compared. The Hardy-Weinberg genetic balance law was used to test the population representativeness. Human ICAM-1ELISA kit was used to detect the level of sICAM-1 in plasma of different nationalities. Results: DNA sequencing was consistent with PCR-RFLP analysis. In this study, we found that there was no significant difference in the distribution of KK,KE,EE genotypes among ICAM-1 gene K469E loci in three ethnic groups, but there was significant difference in the frequency distribution of KFE alleles among the three ethnic groups (P0.05). The frequency distribution of genotype and allele of Yugur nationality, Tibetan nationality and Han nationality were significantly different (P0.05). The plasma sICAM-1 levels of the individuals with K allele (253.409 卤122.547185.061 卤97.063gg/L) were higher than those without K allele (145.151 卤110.961 渭 g / L). There were significant differences in plasma levels among the three genotypes (P0.01). Only two genotypes of KK,KM were detected at K56M locus in the three ethnic groups, but no MM genotype was detected. The frequencies of two genotypes and Kom M alleles were significantly different between Yugur and Han populations (P0.05). The plasma sICAM-1 levels of individuals with KK type (253.409 卤122.547 渭 g / L) were significantly higher than those with KM type (168.350 卤103.630 渭 g / L) (P0.01). The frequency of ICAM-1 genotype and allele in the three ethnic groups had no significant difference in sex ratio and age distribution, and the distribution was in accordance with the law of Hardy-Weinberg genetic balance (P0.05). The plasma sICAM-1 level of Yugur and Tibetan nationality (224.418 卤80.950214.298 卤111.508 渭 g / L) was higher than that of Han nationality (175.063 卤125.266 渭 g / L). The comparison showed that there was significant difference in plasma sICAM-1 level between Yugur and Han nationality (P0.01), and there was also significant difference between Tibetan and Han (P0.05). Conclusion: the polymorphism genotypes and alleles of ICAM-1K469E and K56M in Yugur, Tibetan and Han nationality are mainly KK/KE, KK and K alleles, and the polymorphism of Yugur and Tibetan is higher than that of Han. K469E and K56M polymorphisms of ICAM-1 gene affect the level of sICAM-1 in plasma. K allele of K469E may be a genetic risk factor for some highland related diseases. The M allele of K56M may be the genetic protective factor of K56M, and the polymorphism of ICAM-1 gene may be related to the susceptibility to diseases at different altitude and different nationalities.
【学位授予单位】：兰州大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R394
[Abstract]:Objective: to detect the polymorphisms of ICAM-1 gene K469E (A / G rs5498) and K56M (A / T rs5491) and the level of sICAM-1 in plasma of Yugur, Tibetan and Han nationality. To investigate the relationship between the polymorphism of ICAM-1 gene and the level of sIC AM-1 in plasma, the distribution of genotype and allele frequency in the three ethnic groups was compared and analyzed. Methods: peripheral venous blood was collected from 327 Yugur nationality, 400 Tibetan and 126 Han nationality, and EDTA anticoagulant was used to extract DNA, by using a large number of whole blood genomic DNA extraction kit to analyze the DNA polymorphism of PCR-RFLP. After agarose gel electrophoresis, genotypes were determined by gel scanning imaging system, and gene sequences were sequenced by DNA. The distribution of ICAM-1 genotypes and alleles in the three ethnic groups was compared. The Hardy-Weinberg genetic balance law was used to test the population representativeness. Human ICAM-1ELISA kit was used to detect the level of sICAM-1 in plasma of different nationalities. Results: DNA sequencing was consistent with PCR-RFLP analysis. In this study, we found that there was no significant difference in the distribution of KK,KE,EE genotypes among ICAM-1 gene K469E loci in three ethnic groups, but there was significant difference in the frequency distribution of KFE alleles among the three ethnic groups (P0.05). The frequency distribution of genotype and allele of Yugur nationality, Tibetan nationality and Han nationality were significantly different (P0.05). The plasma sICAM-1 levels of the individuals with K allele (253.409 卤122.547185.061 卤97.063gg/L) were higher than those without K allele (145.151 卤110.961 渭 g / L). There were significant differences in plasma levels among the three genotypes (P0.01). Only two genotypes of KK,KM were detected at K56M locus in the three ethnic groups, but no MM genotype was detected. The frequencies of two genotypes and Kom M alleles were significantly different between Yugur and Han populations (P0.05). The plasma sICAM-1 levels of individuals with KK type (253.409 卤122.547 渭 g / L) were significantly higher than those with KM type (168.350 卤103.630 渭 g / L) (P0.01). The frequency of ICAM-1 genotype and allele in the three ethnic groups had no significant difference in sex ratio and age distribution, and the distribution was in accordance with the law of Hardy-Weinberg genetic balance (P0.05). The plasma sICAM-1 level of Yugur and Tibetan nationality (224.418 卤80.950214.298 卤111.508 渭 g / L) was higher than that of Han nationality (175.063 卤125.266 渭 g / L). The comparison showed that there was significant difference in plasma sICAM-1 level between Yugur and Han nationality (P0.01), and there was also significant difference between Tibetan and Han (P0.05). Conclusion: the polymorphism genotypes and alleles of ICAM-1K469E and K56M in Yugur, Tibetan and Han nationality are mainly KK/KE, KK and K alleles, and the polymorphism of Yugur and Tibetan is higher than that of Han. K469E and K56M polymorphisms of ICAM-1 gene affect the level of sICAM-1 in plasma. K allele of K469E may be a genetic risk factor for some highland related diseases. The M allele of K56M may be the genetic protective factor of K56M, and the polymorphism of ICAM-1 gene may be related to the susceptibility to diseases at different altitude and different nationalities.
【学位授予单位】：兰州大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R394
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