【摘要】：研究背景與目的：動脈粥樣硬化性腦梗死(atherosclerosis cerebral infarction,ACI)是目前世界上危害最大的疾病之一,它的高發(fā)病率、高致殘率、高死亡率已經(jīng)嚴(yán)重影響了人類壽命及生活質(zhì)量。腦梗死病因多樣,動脈粥樣硬化(atherosclerosis,AS)是其中重要的病因之一。近年來,有國外研究表明RYR3基因通過對Ca2+通道的調(diào)節(jié)與腦梗死有關(guān),國內(nèi)尚未見有文獻(xiàn)報道。本研究目的在于分析湖南漢族人群RYR3基因的三個單核苷酸多態(tài)性位點與動脈粥樣硬化性腦梗死的關(guān)系。 方法：應(yīng)用病例-對照研究,收集湖南漢族人群中228例動脈粥樣硬化性腦梗死患者和233例與之相匹配的正常對照組,采用聚合酶鏈?zhǔn)椒磻?yīng)及基質(zhì)輔助激光解吸電離飛行時間質(zhì)譜技術(shù)分析RYR3基因的rs877087、rs2229116和rs2132207多態(tài)性位點的基因型、等位基因及純合基因型在動脈粥樣硬化性腦梗死組和正常對照組的分布,探討這三個多態(tài)性位點與動脈粥樣硬化性腦梗死的關(guān)系。 結(jié)果： 1. RYR3rs877087位點有TT、CT兩種基因型,在兩組間分布頻率：ACI組：90.3%,9.7%,對照組：89.7%,10.3%；等位基因T、C在兩組間分布頻率：ACI組：95.2%,4.8%；對照組：94.8%,5.2%。分析得出基因型與等位基因在兩組中分布無顯著差異(P0.05)。 2. RYR3rs2229116位點有AA、AG、GG三種基因型,在兩組中的分布頻率：ACI組：71.5%、27.2%、1.3%,對照組：71.2%、25.3%、3.4%；A、G等位基因在兩組間的分布頻率：ACI組：85.1%、14.9%；對照組：83.9%、16.1%。經(jīng)卡方檢驗,基因型與等位基因在兩組中分布無顯著差異(P0.05)。 3. RYR3rs2132207位點有CC、TT、CT基因型頻率在兩組間分布如下：ACI組：40.9%、10.7%、48.4%；對照組：44.4%、13.8%、41.8%；等位基因T、C在兩組間的分布頻率：ACI組：34.9%、65.1%；對照組：34.7%、65.3%。分析得出基因型與等位基因在兩組間分布無顯著差異(P0.05)。 4.RYR3基因rs2229116位點(AG+AA)與純合型GG在兩組的分布頻率：ACI組：98.7%、1.3%；對照組：96.6%、3.4%；純合型AA與(AG+GG)在兩組間分布頻率：ACI組：71.5%、28.5%；對照組：71.2%、28.8%。純合基因型在兩組間分布無顯著差異(P0.05)。rs2132207位點純合型CC與(TT+CT)在兩組間分布頻率：ACI組：40.9%、59.1%；對照組：44.4%、55.6%；純合型TT與(CC+CT)在兩組間分布頻率如下：ACI組：10.7%、89.3%；對照組：13.8%、86.2%。統(tǒng)計分析得出純合基因型在兩組間分布無顯著差異(P0.05)。 結(jié)論： 1.RYR3基因rs887087位點、rs2229116位點、rs2132207位點基因型及等位基因頻率與湖南省漢族人群的動脈粥樣硬化性腦梗死可能無顯著關(guān)系。 2.RYR3基因rs2229116位點、rs2132207位點純合基因型與湖南省漢族人群的動脈粥樣硬化性腦梗死可能無顯著相關(guān)。
[Abstract]:Background & objective: atherosclerotic cerebral infarction (atherosclerosis cerebral infarction,ACI) is one of the most harmful diseases in the world. Its high morbidity, high disability rate and high mortality rate have seriously affected human life expectancy and quality of life. Atherosclerosis (atherosclerosis,AS) is one of the most important causes of cerebral infarction. In recent years, foreign studies have shown that the regulation of Ca2 channels by RYR3 gene is related to cerebral infarction. The aim of this study was to analyze the relationship between three single nucleotide polymorphisms (SNP) of RYR3 gene and atherosclerotic cerebral infarction (ACI) in Hunan Han population. Methods: a case-control study was conducted in 228 patients with atherosclerotic cerebral infarction and 233 normal controls. Polymerase chain reaction (PCR) and matrix assisted laser desorption ionization time of flight mass spectrometry (TOF-MS) were used to analyze the genotypes of rs877087,rs2229116 and rs2132207 polymorphisms in RYR3 gene. The distribution of alleles and homozygous genotypes in patients with atherosclerotic cerebral infarction (ACI) and normal controls were studied to explore the relationship between these three polymorphism loci and atherosclerotic cerebral infarction (ACI). Results: 1. There were two genotypes of TT,CT in RYR3rs877087 locus. The frequency of distribution between the two groups was as follows: ACI group: 90.3% and 9.7g; control group: 89.7g / 10.3s; The frequency of allele TOC distribution between the two groups: the ACI group: 95.2and 4.8; the control group: 94.8and 5.2. The results showed that there was no significant difference in the distribution of genotype and allele between the two groups (P0.05). 2. There were three genotypes of AA,AG,GG at RYR3rs2229116 locus. The frequency of AA,AG,GG distribution in the two groups was 71.5%, 27.2and 1.3in the ACI group, and the control group was 71.2and 25.3cm / 3.4in the control group. The frequency of allelic distribution between the two groups: ACI group: 85.1% and 14.9%; control group: 83.9% 16.1%. There was no significant difference in genotype and allele distribution between the two groups by chi-square test (P0.05). 3. The frequencies of CC,TT,CT genotype at RYR3rs2132207 locus were as follows: ACI group: 40.910. 7% and 48.4%; control group: 44.4% 13.8% and 41.8%; The frequency of allele TOC distribution between the two groups: in ACI group: 34.9% and 65.1%; in control group, 34.7% and 65.3%, respectively. The results showed that there was no significant difference in the distribution of genotype and allele between the two groups (P0.05). The distribution frequency of rs2229116 locus (AG AA) and homozygous GG of 4.RYR3 gene in two groups: ACI group: 98.7% 1.3g, control group: 96.6cm 3.4g; The distribution frequency of homozygous AA and (AG GG) between the two groups was: ACI group: 71.5% and 28.5%; control group: 71.2% and 28.828%; There was no significant difference in the distribution of homozygous genotype between the two groups (P0.05). The distribution frequency of homozygous CC and (TT CT) at rs2132207 locus between the two groups was as follows: ACI group: 40.9g / 59.1; The frequencies of homozygous TT and (CC CT) in the two groups were as follows: ACI group: 10.7 and 89.3; control group: 13.8and 86.2. Statistical analysis showed that there was no significant difference in the distribution of homozygous genotype between the two groups (P0.05). Conclusion: the genotypes and allelic frequencies of rs887087, rs2229116, rs2132207 loci of 1.RYR3 gene may not be associated with atherosclerotic cerebral infarction in the Han population of Hunan Province. The homozygous genotype of rs2229116 locus and rs2132207 locus of 2.RYR3 gene may not be associated with atherosclerotic cerebral infarction in Hunan Han population.
【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R743.3

【參考文獻(xiàn)】

相關(guān)期刊論文 前10條

1 尹海燕;王葦;李澄;張新江;劉振生;周龍江;;急性腦梗死動脈溶栓的現(xiàn)狀、影像學(xué)評價與進(jìn)展[J];國際醫(yī)學(xué)放射學(xué)雜志;2011年01期

2 楊秀娟;許宏偉;袁寧;王依寧;唐北沙;張樂;肖波;夏健;;湖南漢族人群脂聯(lián)素基因多態(tài)性分布及其與動脈粥樣硬化性腦梗死和相關(guān)危險因素的關(guān)系[J];中國動脈硬化雜志;2008年11期

3 陳英;許宏偉;王依寧;李華翔;楊期東;劉運海;;湖南漢族人纖維蛋白原β148C/T基因多態(tài)性與腦梗死和血漿纖維蛋白原水平的相關(guān)性[J];中國動脈硬化雜志;2010年12期

4 趙真;包正軍;許宏偉;肖波;楊曉蘇;楊期東;;對氧磷酶2 G148A基因多態(tài)性與腦梗死的關(guān)系[J];臨床神經(jīng)病學(xué)雜志;2008年01期

5 郭新宇;;不同劑量rt-PA靜脈內(nèi)溶栓治療急性腦梗死的療效[J];中國實用神經(jīng)疾病雜志;2012年16期

6 張樂,曾藝,楊期東,杜小平,周艷宏,夏健,劉運海,許宏偉;載脂蛋白B基因G11039A多態(tài)與腦血管病的關(guān)系研究[J];實用預(yù)防醫(yī)學(xué);2005年04期

7 賀茂林;急性腦梗死溶栓治療方案[J];中國現(xiàn)代神經(jīng)疾病雜志;2004年02期

8 許宏偉;胡鳴一;袁寧;袁長勇;王依寧;張樂;;湖南漢族人群ApoA5基因T-1131C多態(tài)性分布及其與腦梗死的關(guān)系[J];中風(fēng)與神經(jīng)疾病雜志;2008年05期

9 王世芳;肖衛(wèi)民;吳志強;;急性腦梗死靜脈溶栓早期治療效果的多因素分析[J];中華腦血管病雜志(電子版);2012年02期

10 夏健,楊期東,楊期明,許宏偉,張樂;載脂蛋白H基因7號外顯子多態(tài)性與長沙地區(qū)漢族人腦卒中的相關(guān)性[J];中華神經(jīng)科雜志;2003年04期

，

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