裕固族、藏族和漢族人群ICAM-1基因K469E、K56M多態(tài)性對血漿sICAM-1水平的影響
發(fā)布時間：2018-11-11 18:42
【摘要】：目的：檢測裕固族、藏族和漢族人群血液中ICAM-1基因K469E(A/G,rs5498)和K56M(A/T,rs5491)多態(tài)性和血漿中sICAM-1水平,比較分析其基因型和等位基因頻率在三個民族人群中的分布,探討ICAM-1基因兩個位點(diǎn)多態(tài)性與血漿中sIC AM-1水平的相關(guān)性。 方法：采集327例裕固族、400例藏族及126例漢族人群外周靜脈血,EDTA抗凝,采用大量全血基因組DNA提取試劑盒提取DNA,以PCR-RFLP進(jìn)行DNA多態(tài)性分析,瓊脂糖凝膠電泳后在凝膠掃描成像系統(tǒng)下判斷基因型,DNA測序確定基因序列,進(jìn)行比較ICAM-1基因型和等位基因頻率在三個民族群體中的分布,通過Hardy-Weinberg遺傳平衡定律檢驗(yàn)群體代表性。采用人ICAM-1ELISA試劑盒檢測各民族血漿中sICAM-1水平。 結(jié)果：DNA測序與PCR-RFLP分析結(jié)果一致。本實(shí)驗(yàn)檢測到三個民族人群ICAM-1基因K469E位點(diǎn)的KK、KE、EE三種基因型分布差異沒有統(tǒng)計(jì)學(xué)意義,而K、E等位基因頻率分布的差異有統(tǒng)計(jì)學(xué)意義(P0.05)；裕固族和藏族分別與漢族群體之間的基因型和等位基因頻率分布差異都有統(tǒng)計(jì)學(xué)意義(P0.05)；該位點(diǎn)含K等位基因個體(253.409±122.547,185.061±97.063gg/L)的血漿sICAM-1水平高于不含K等位基因的個體(145.151±110.961μg/L),三種基因型的相應(yīng)血漿水平之間差異有顯著統(tǒng)計(jì)學(xué)意義(P0.01)。K56M位點(diǎn)在三個民族中只檢測出KK、KM兩種基因型,尚未檢測到MM型；兩種基因型和K、M等位基因頻率分布在裕固族與漢族群體之間差異有統(tǒng)計(jì)學(xué)意義(P0.05)；該位點(diǎn)含KK型的個體的血漿sICAM-1水平(253.409±122.547μg/L)高于KM型的個體(168.350±103.630μg/L),差異有顯著統(tǒng)計(jì)學(xué)意義(P0.01)。三個民族群體ICAM-1基因型和等位基因頻率無明顯性別比例和年齡分布差異,分布符合Hardy-Weinberg遺傳平衡定律(P0.05)。裕固族和藏族群體血漿中sICAM-1水平(224.418±80.950,214.298±111.508μg/L)高于漢族群體(175.063±125.266μg/L),三個民族之間差異有統(tǒng)計(jì)學(xué)意義(P0.05),兩兩比較示裕固族與漢族群體血漿中sICAM-1水平差異有顯著統(tǒng)計(jì)學(xué)意義(P0.01),藏族與漢族群體差異也有統(tǒng)計(jì)學(xué)意義(P0.05)。 結(jié)論：裕固族、藏族和漢族人群的ICAM-1K469E和K56M兩個位點(diǎn)多態(tài)性基因型和等位基因均以KK/KE型、KK型和K等位基因?yàn)橹?且裕固族和藏族的高于漢族,分布具有群體代表性。ICAM-1基因K469E和K56M多態(tài)性影響血漿中sICAM-1水平。K469E的K等位基因可能是某些高原相關(guān)疾病的遺傳危險因素,而K56M的M等位基因可能是其遺傳保護(hù)因素。ICAM-1基因多態(tài)性可能與不同海拔高度和不同民族的易患疾病的易感性相關(guān)。
[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 鹵122.547185.061 鹵97.063gg/L) were higher than those without K allele (145.151 鹵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 鹵122.547 渭 g / L) were significantly higher than those with KM type (168.350 鹵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 鹵80.950214.298 鹵111.508 渭 g / L) was higher than that of Han nationality (175.063 鹵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.
【學(xué)位授予單位】：蘭州大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：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 鹵122.547185.061 鹵97.063gg/L) were higher than those without K allele (145.151 鹵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 鹵122.547 渭 g / L) were significantly higher than those with KM type (168.350 鹵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 鹵80.950214.298 鹵111.508 渭 g / L) was higher than that of Han nationality (175.063 鹵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.
【學(xué)位授予單位】：蘭州大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R394
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