本文選題：川崎病　切入點(diǎn)：ITPKC基因　出處：《天津醫(yī)科大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：目的： 探討ITPKC基因rs28493229位點(diǎn)是否與中國漢族川崎病并冠狀動脈損害有相關(guān)性,從分子生物學(xué)角度探求川崎病并冠狀動脈損害的發(fā)病機(jī)制,為預(yù)防川崎病并冠狀動脈損害的發(fā)生及早期診斷提供可靠科學(xué)依據(jù)。 方法： 應(yīng)用聚合酶鏈反應(yīng)結(jié)合直接測序技術(shù),對30例中國漢族川崎病患兒和種族、性別、年齡相匹配的25例中國漢族健康兒童ITPKC基因rs28493229位點(diǎn)進(jìn)行突變檢測。 結(jié)果： 1、本研究發(fā)現(xiàn),川崎病組ITPKC基因rs28493229位點(diǎn)的C等位基因頻率較對照組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=7.19,P0.05,OR=5.22,95%CI=1.56～17.44),C等位基因的OR值大于1(OR=5.22)；川崎病組基因型分布較對照組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=7.62，，P0.05),其中攜帶C等位基因的GC和CC基因型的OR值均大于1(10.29,2.67)。 2、本研究發(fā)現(xiàn),冠脈損害組ITPKC基因rs28493229位點(diǎn)的C型等位基因頻率較無冠脈損害組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=7.33,P0.05,OR=5.50,95%CI=2.88～18.77),C等位基因的OR值大于1(OR=5.50)；冠脈損害組基因型分布較無冠脈損害組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=8.28,P0.05),其中攜帶C等位基因的GC和CC型基因型的OR值均大于1(8.75,2.91)。 結(jié)論： 1、川崎病組ITPKC基因rs28493229位點(diǎn)的C等位基因頻率較對照組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=7.19,P0.05),C等位基因OR值大于1(OR=5.22),提示川崎病發(fā)生的危險度增加；川崎病組ITPKC基因rs28493229位點(diǎn)的基因型分布較對照組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=7.62,P0.05),其中攜帶C等位基因的GC和CC基因型OR值均大于1(10.29，,2.67),說明攜帶C等位基因的GC、CC基因型可使得川崎病發(fā)生的危險度增加。 2、冠脈損害組ITPKC基因rs28493229位點(diǎn)的C型等位基因頻率較無冠脈損害組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=7.33,P0.05),C等位基因OR值大1(OR=5.50),提示川崎病并冠狀動脈損害發(fā)生的危險度增加；冠脈損害組ITPKC基因rs28493229位點(diǎn)的基因型分布較無冠脈損害組顯著增高,差異有統(tǒng)計學(xué)意義(χ2=8.28,P0.05),其中攜帶C等位基因的GC和CC型基因型的OR值均大于1(8.75,2.91),說明攜帶C等位基因的GC、CC基因型可使得川崎病并冠狀動脈損害發(fā)生的危險度增加。
[Abstract]:Objective:. To explore whether the rs28493229 locus of ITPKC gene is related to Kawasaki disease and coronary artery damage in Chinese Han nationality, and to explore the pathogenesis of Kawasaki disease with coronary artery damage from the molecular biological point of view. To provide a reliable scientific basis for the prevention of Kawasaki disease associated with coronary artery damage and early diagnosis. Methods:. Polymerase chain reaction (PCR) combined with direct sequencing technique was used to detect ITPKC gene rs28493229 loci in 30 Chinese Han children with Kawasaki disease and 25 healthy children with matched race, sex and age. Results:. 1. In this study, we found that the C allele frequency of rs28493229 locus of ITPKC gene in Kawasaki disease group was significantly higher than that of control group (蠂 ~ 2 / 7.19 ~ (7.19) P 0.05) (蠂 ~ 2 / 7 ~ (7.19)) P 0.05 ~ (5) ~ (5) ~ (5) C allele OR value was higher than that of control group, and the genotype distribution of Kawasaki disease group was significantly higher than that of control group, and the genotype distribution of Kawasaki disease group was higher than that of control group. The difference was statistically significant (蠂 ~ 2 / 7.62P _ (0.05)). The OR values of GC and CC genotypes with C allele were higher than that of 1.10.29 / 2.67. 2. In this study, we found that the frequency of type C allele C of ITPKC gene rs28493229 locus was significantly higher in the coronary artery lesion group than that in the non-coronary lesion group. There was significant difference (蠂 ~ 2 / 7.33 / P _ (0.05) P = 5.50 / 95) and the OR value of C allele of C allele was higher than that of non-coronary artery lesion group (蠂 ~ 2 = 7.33 / P = 5.50 / 95), and the genotype distribution of coronary artery lesion group was significantly higher than that of non-coronary artery lesion group (蠂 ~ 2 / 2 = 8.28 / P = 0.05), and the OR of GC and CC genotype with C allele was higher than that of C allele / C genotype > 1 / 8.75 / 2.91g / L. Conclusion:. 1. The C allele frequency of rs28493229 locus of ITPKC gene in Kawasaki disease group was significantly higher than that of the control group (蠂 ~ 2 ~ (7.19) P _ (0.05) C allele OR = 5.22), which suggested that the risk of Kawasaki disease was increased. The genotype distribution of rs28493229 locus of ITPKC gene in Kawasaki disease group was significantly higher than that in control group. The difference was statistically significant (蠂 ~ 2 / 7.62P _ (0.05)). The odds ratios of GC and CC genotypes with C allele were higher than that of 1 ~ (10. 29) C allele (2.67), which indicated that the GCnCC genotype with C allele could increase the risk of Kawasaki disease (Kawasaki disease). 2. The frequency of type C allele C of ITPKC gene rs28493229 locus in coronary artery lesion group was significantly higher than that in non-coronary artery lesion group (蠂 2 = 7.33%, P 0.05C allele OR = 5.50), which suggested that the risk of Kawasaki disease complicated with coronary artery damage was increased. The genotype distribution of ITPKC gene rs28493229 locus in coronary artery lesion group was significantly higher than that in non-coronary artery lesion group. The difference was statistically significant (蠂 ~ 2 = 8.28, P 0.05). The odds ratios of GC and CC genotypes with C allele were higher than that of C allele (P < 0.01), which indicated that the GCC-CC genotype with C allele could increase the risk of Kawasaki disease and coronary artery damage.
【學(xué)位授予單位】：天津醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R725.4

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