【摘要】：研究背景與目的：動(dòng)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(lèi)壽命及生活質(zhì)量。腦梗死病因多樣,動(dòng)脈粥樣硬化(atherosclerosis,AS)是其中重要的病因之一。近年來(lái),有國(guó)外研究表明RYR3基因通過(guò)對(duì)Ca2+通道的調(diào)節(jié)與腦梗死有關(guān),國(guó)內(nèi)尚未見(jiàn)有文獻(xiàn)報(bào)道。本研究目的在于分析湖南漢族人群RYR3基因的三個(gè)單核苷酸多態(tài)性位點(diǎn)與動(dòng)脈粥樣硬化性腦梗死的關(guān)系。 方法：應(yīng)用病例-對(duì)照研究,收集湖南漢族人群中228例動(dòng)脈粥樣硬化性腦梗死患者和233例與之相匹配的正常對(duì)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(shí)間質(zhì)譜技術(shù)分析RYR3基因的rs877087、rs2229116和rs2132207多態(tài)性位點(diǎn)的基因型、等位基因及純合基因型在動(dòng)脈粥樣硬化性腦梗死組和正常對(duì)照組的分布,探討這三個(gè)多態(tài)性位點(diǎn)與動(dòng)脈粥樣硬化性腦梗死的關(guān)系。 結(jié)果： 1. RYR3rs877087位點(diǎn)有TT、CT兩種基因型,在兩組間分布頻率：ACI組：90.3%,9.7%,對(duì)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(duì)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(wú)顯著差異(P0.05)。 2. RYR3rs2229116位點(diǎn)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(duì)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(duì)照組：83.9%、16.1%。經(jīng)卡方檢驗(yàn),基因型與等位基因在兩組中分布無(wú)顯著差異(P0.05)。 3. RYR3rs2132207位點(diǎn)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(duì)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(duì)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(wú)顯著差異(P0.05)。 4.RYR3基因rs2229116位點(diǎn)(AG+AA)與純合型GG在兩組的分布頻率：ACI組：98.7%、1.3%；對(duì)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(duì)照組：71.2%、28.8%。純合基因型在兩組間分布無(wú)顯著差異(P0.05)。rs2132207位點(diǎn)純合型CC與(TT+CT)在兩組間分布頻率：ACI組：40.9%、59.1%；對(duì)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(duì)照組：13.8%、86.2%。統(tǒng)計(jì)分析得出純合基因型在兩組間分布無(wú)顯著差異(P0.05)。 結(jié)論： 1.RYR3基因rs887087位點(diǎn)、rs2229116位點(diǎn)、rs2132207位點(diǎn)基因型及等位基因頻率與湖南省漢族人群的動(dòng)脈粥樣硬化性腦梗死可能無(wú)顯著關(guān)系。 2.RYR3基因rs2229116位點(diǎn)、rs2132207位點(diǎn)純合基因型與湖南省漢族人群的動(dòng)脈粥樣硬化性腦梗死可能無(wú)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(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類(lèi)號(hào)】：R743.3

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