重庆市潼南区汉族育龄女性叶酸代谢通路关键酶基因多态性调查

目的调查重庆市潼南区育龄女性叶酸代谢通路关键酶基因多态性。方法采用横断面调查研究方法,以到潼南区妇幼保健计划生育服务中心做孕检的951名汉族女性为研究对象。采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测。统计分析本地区基因多态性的分布特征,并与已报道地区进行比较,为进一步降低出生缺陷及孕产妇疾病提供分子医学理论依据。结果潼南区汉族女性的MTHFRC677T、A1298C,MTRRA66G基因型、等位基因型频率分布与新疆维吾尔族自治区塔城市、云南省保山市、广西壮族自治区德保县、广东省阳江市、海南省琼海市比较,差异有统计学意义(P0.05),MTHFRC677T、A1298C基因型频率和等位基因频率分布与河北省廊坊市、内蒙古阿荣旗、河南省济源市、江苏省镇江市等比较,差异有统计学意义(P0.05)。MTHFRC677T、A1298C基因型频率与贵州省福泉市、湖北省宜都市、湖南省湘潭市比较,差异无统计学意义(P0.05)。结论潼南区汉族女性的MTHFR、MTRR基因频率分布有自身特点。     

Parkin基因多态性与四川地区散发性帕金森病的相关性研究

目的了解四川地区散发性帕金森病parkin基因多态性与帕金森病(Parkinson’s disease,PD)的相关性。方法采用病例-对照研究,应用聚合酶链反应、限制性片段长度多态性、变性高效液相色谱及DNA测序等技术,对四川地区汉族人群198例帕金森病患者和187名正常对照parkin基因-258T/G及IVS3-20T/C多态性位点进行研究,并通过比较各多态性在PD患者和正常对照人群中的频率分布,探讨基因多态性与PD的可能关系。结果parkin基因-258T/G多态性PD组G等位基因频率明显高于对照组(52.5%vs43.3%),两组差异有统计学意义(χ2=6.17,P<0.025,OR=1.45,95%CI:1.04~1.86);进一步将PD组按发病年龄分层发现,只有50岁以上发病患者与对照组相比G等位基因频率差异具有统计学意义(χ2=9.048,P<0.01,OR=1.57,95%CI:1.08~2.06);同样,与对照组(69.51%)相比,PD组TG GG基因型频率(78.79%)亦增加,两者间差异具有统计学意义(χ2=3.854,P<0.05,OR=1.63,95%CI0.88~2.38);PD组不同基因型组间发病年龄差异具有统计学意义(P<0.05),GG基因型组的平均发病年龄比TT或TG基因型的发病晚近5年左右。parkin基因IVS3-20T/C多态性以CC基因型多见,TC型杂合子的频率较低,该实验未发现TT基因型。结论核心启动子区-258T/G多态G等位基因可能增加了四川地区汉族人群散发性PD发生的风险,尤其是50岁以后的发病风险;四川地区汉族人群IVS3-20T/C位点,以CC基因型多见,TC型杂合子的频率较低,无TT基因型。     

肿瘤坏死因子-α基因多态性与安徽地区汉族人群Graves病易感性及患病早期TRAb水平的关联

目的 检测肿瘤坏死因子-a(tumour necrosis factor-α,TNF-α)基因启动子区的—863C/A、—857C/T、—238G/A等3个位点的单核苷酸多态性与格雷夫斯氏病(Graves disease,GD)与安徽地区汉族人群中发病的相关性,以探讨与GD有关的遗传背景.方法 应用聚合酶链式反应-序列特异性引物法(polymerase chain reaction and sequence specific primers,PCR-SSP)检测254例Graves病患者和212名正常对照TNF-α基因启动子区—863C/A、—857C/T、—238G/A三个位点的单核苷酸多态性,比较GD患者组与正常对照组、不同性别的GD患者之间的等位基因和基因型频率的分布情况.同时采用放射性免疫法测定早期GD患者的促甲状腺激素受体抗体(thyroid stimulating hormone receptor antibody,TRAb)水平,比较不同TRAb水平患者TNF-α基因这3个多态位点等位基因及基因型的频率分布情况.结果 (1)GD组—863 C/A位点A等位基因频率(16.73％)高于正常对照组(11.79％)(P＜0.05,OR=1.503);GD组AA+CA基因型频率(32.68％)明显高于正常对照组(23.58％) (P＜0.05,OR=1.573).—857 C/T、—238G/A位点等位基因及基因型频率在GD组与正常对照组间的差异均无统计学意义(P＞0.05).(2)将GD组按性别分组比较,结果显示3个位点的基因型及等位基因频率在男、女性间差异均无统计学意义(P＞0.05).(3)将早期GD患者按TRAb水平分组比较,结果显示3个位点的等位基因和基因型频率差异均无统计学意义(P＞0.05).结论 TNF-α基因—863C/A单核苷酸多态性可能与安徽地区汉族人群GD的发病具有相关性,而—857C/T、—238G/A位点的单核苷酸多态性与之无相关性;患者早期TRAb水平和GD患者的性别与TNF-α基因—863C/A、—857C/T、—238G/A三个位点的单核苷酸多态性无关联.     

新疆维吾尔族和汉族人非综合征型唇腭裂与转化生长因子β3基因SfaNI多态性的分析

本研究探讨新疆维吾尔族、汉族转化生长因子β3(TGFβ3)基因SfaNI多态性与非综合征性唇腭裂(NSCL/P)的关系。经PCR扩增出TGFβ3基因SfaNI片段作为模板,加入SNP序列特异延伸引物进行单碱基延伸反应,产物纯化后利用飞行时间质谱技术对SfaNI多态性进行检测。结果显示:NSCL/P组与对照组基因型及等位基因频率分布差异均无统计学意义(P0.05);维、汉两民族内,NSCL/P组和对照组基因型频率分布差异均无统计学意义(P0.05),等位基因A、G的频率分布在维吾尔族内两组间无差异(P0.05),在汉族内两组间差异有统计学意义(P0.05);无论是NSCL/P患者还是健康人群,在维、汉两民族间基因型和等位基因频率的分布差异均无统计学意义(P0.05)。本研究表明新疆维吾尔族NSCL/P与TGFβ3基因的SfaNI多态性无关,而汉族NSCL/P的发生可能与TGFβ3基因的SfaNI等位基因A、G的频率有关。     

MTHFR基因C677T多态性与冠心病患者血浆同型半胱氨酸和叶酸水平相关

目的研究宁夏地区汉族人群5,10-亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性、同型半胱氨酸水平(Hcy)及叶酸水平与冠心病(CHD)的相关性。方法用病例-对照研究方法、应用限制性片段长度多态性扩增技术(PCR-RFLP)分析宁夏地区汉族202例冠心病患者及199例正常人群MTHFRC677T基因型频率及基因频率的分布特点。荧光偏振免疫分析法测定血浆Hcy水平,化学发光免疫分析法测定血清叶酸、VitB12浓度。结果 (1)病例组与对照组MTHFRC677T基因型频率分别为CC型23.3%vs20.7%、CT型52.3%vs54.5%和TT型24.4%vs24.8%,两组间基因型及等位基因频率分布无差异。(2)冠心病患者组中MTHFR基因C677TCC基因型患者血浆Hcy浓度(10.84μmol/L)较T基因携带者(12.24μmol/L)低(P<0.01)。CC基因型患者血浆叶酸浓度(5.38μg/L)较T基因携带者(3.72μg/L)高(P<0.05)。结论 MTHFRC677T的3种基因型频率在宁夏汉族冠心病患者和正常人群中的分布无统计学意义。MTHFR基因C677T多态性与冠心病的危险因素Hc...     

新疆维吾尔族人群SCN5A基因在单纯性先天性心脏病中的相关性分析

背景：SCN5A是目前报道最多的编码心肌钠离子通道的基因,SCN5A基因编码人心脏电压门控钠通道的α亚基,在人心肌细胞中高度表达,其主要负责动作电位的产生和兴奋细胞的扩展,对控制心肌细胞的兴奋传导起着关健作用。 目的：研究SCN5A基因H588R,C5457T,R1193Q位点多态性与新疆地区维吾尔族单纯性先天性心脏病的相关性。 方法：选取150例新疆维吾尔族单纯性先天性心脏病患者作为病例组,150例新疆维吾尔族健康人群作为对照组。采用聚合酶链式反应-限制性片段长度多态性分析技术和直接测序法对SCN5A基因H588R,C5457T,R1193Q位点进行多态性检测,分析不同基因型频率和等位基因频率在病例组和对照组中的分布。 结果与结论：两组比较多态位点C5457T,R1193Q的基因型频率和等位基因频率差异均有显著性意义(P < 0.05);多态位点H588R的基因型频率差异有显著性意义(P < 0.05),而等位基因频率差异无显著性意义(P﹥0.05)。与对照组比较,C5457T位点在房间隔缺损和动脉导管未闭患者中等位基因频率分布差异有显著性意义(P < 0.05),等位基因T分布增加房间隔缺损、动脉导管未闭的发病风险,OR值分别为3.636和3.467。R1193Q位点在房间隔缺损、法洛氏四联症和卵圆孔未闭患者中等位基因频率分布差异有显著性意义(P < 0.05),等位基因A分布增加房间隔缺损、法洛氏四联症和卵圆孔未闭的发病风险,OR值分别为3.413,3.839和4.059。结果证实,SCN5A基因多态位点C5457T,R1193Q可能是新疆维吾尔族单纯性先天性心脏病的易感因子;未发现多态位点H558R与新疆维吾尔族单纯性先天性心脏病直接相关。  中国组织工程研究杂志出版内容重点：组织构建;骨细胞;软骨细胞;细胞培养;成纤维细胞;血管内皮细胞;骨质疏松;组织工程全文链接：     

MMP-2基因启动子区-735C→T多态性与冠状动脉粥样硬化的相关性研究

目的:研究中国汉族人群基质金属蛋白酶2(MMP-2)基因启动子区-735C→T多态性与冠状动脉粥样硬化(CAS)的相关性.方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析法,以309例经冠状动脉造影确诊为冠状动脉粥样硬化的患者为研究对象,检测MMP-2基因启动子区-735C→T多态性,以311例同期体检的正常人为对照组,比较两组间MMP-2基因多态性频率分布的差异,并结合冠脉造影情况,探讨MMP-2基因多态性与CAS发病及冠状动脉狭窄程度的关系.结果:CAS组CC基因型频率(86.1%)明显高于对照组(79.7%),而CT+TT基因型频率(13.9%)明显低于对照组(20.3%),两组之间的差异显著(P<0.05); CAS组C等位基因频率(92.6%)高于对照组(89.1%),T等位基因频率(7.4%)低于对照组(10.9%),两组差异显著(P<0.05).MMP-2基因-735C→T多态性与冠状动脉狭窄程度无关(P>0.05).结论:MMP-2基因-735C→T多态性可能与中国汉族人群CAS有关,MMP-2基因CC基因型和C等位基因可能是CAS遗传易感性的基因标记之一.     

阿尔茨海默病与载脂蛋白E基因-427C/T多态性的关联研究

目的 探讨上海地区汉族人群载脂蛋白E(apolipoprotein E，apoE)基因启动子区—427C／T多态性与Alzheimer病(Alzheimer's disease，AD)发病风险的关系。方法 采用聚合酶链反应和限制性片段长度多态性方法，在104例AD患者和110名正常人中检测了apoE基因—427C／T各基因型及基因频率的分布。按比值比(odds ratio，0R)作疾病关联分析。结果 (1)AD患者与正常对照人群之间不存在—427C／T各等位基因和基因型频率分布的差异(P＞0．05)；(2)按apoE ε4基因分层后，无论是ε4型人群还是非ε4人群都不存在AD患者与正常老人间多态分布的差异(P＞0．05)；(3)在—427C／T 3种基因型中，仅T／T型AD与apoE ε4等位基因呈正关联(OR＝3．94，95％CI：2．206—7．038，x^2＝21．48，P＜0．05)。结论 上海地区汉族人群中，apo E基因—427C／T多态不是AD的疾病易感因子。     

中国新疆地区汉族、维族健康儿童SCN5A基因单核苷酸多态性及其与先天性心脏病的关系

目的主要对钠离子通道基因(SCN5A基因)A29A和D1819D多态性与中国新疆地区汉族、哈萨克族、维吾尔族先天性心脏病(简称先心病)发病的相关性进行分析。方法健康儿童(健康组)350例(维吾尔族145例,汉族110例,哈萨克族95例),先心病儿童(先心病组)350例(维吾尔族145例,汉族110例,哈萨克族95例),进行聚合酶链反应扩增SCN5A基因所有外显子序列,对其产物进行核酸序列检测,对检测到的位点进行统计学分析。结果新疆地区儿童中发现9个单核苷酸多态位点(SNPs),通过对多态位点A29A和D1819D进行统计分析,汉族、哈萨克族、维吾尔族健康儿童中A29A和D1819D的基因型频率和等位基因频率差异有统计学意义(P0.05),汉族、哈萨克族基因型频率和等位基因频率差异无统计学意义(P0.05)。A29A和D1819D的等位基因频率和基因型频率在汉族、维吾尔族先心病组和健康组中分布均有统计学意义(P0.05),A29A等位基因频率和基因型频率在哈萨克族先心病组和健康组中分布均无统计学意义(P0.05),D1819D基因型频率也无统计学意义(P0.05),但等位基因频率有统计学意义(P0.05)。结论 SCN5A基因A29A、D1819D位点在新疆汉、维吾尔族先心病人群中存在多态性,D1819D可能在哈萨克族先心病人群中存在多态性,SCN5A基因可能是新疆地区先心病发病的易感基因。     

早老素-1基因启动子区-48C/T位点多态性与LOAD的遗传相关性

目的研究早老素-1基因启动子区-48C/T位点的多态性与迟发性AD(LOAD)的相关性.方法用常规方法从人外周血白细胞中抽提基因组DNA,PCR扩增出包含-48C/T多态性位点的基因片段,利用PCR-RFLP技术对-48C/T多态性位点进行基因分型,χ2检验分析-48C/T多态性位点基因型分布和等位基因频率.结果以33例AD病例和32例对照样品的外周血白细胞基因组DNA为模板,PCR扩增出了长度为344bp的包含-48C/T多态性位点的基因片段.基因分型结果表明,33例散发型AD的C和T等位基因频率分别为47%和53%,C/T和T/T基因型频率分别为94%和6%.而32例正常对照的C和T等位基因频率分别为48%和52%,C/T和T/T基因型频率分别为97%和3%.χ2检验结果显示,病例-对照样品间C和T等位基因频率及C/C、C/T和T/T基因型的分布均无显著性差异(χ2值分别为0.443和0.318,P>0.05).结论在我们研究的群体中,早老素-1基因启动子区-48C/T位点的多态性与LOAD无显著的遗传相关性.     

Genetic association between low-density lipoprotein receptor-related protein gene polymorphisms and Alzheimer's disease in Chinese Han population

Alzheimer's disease (AD) is the most common neurodegenerative disorders in the elderly. Low-density lipoprotein receptor-related protein (LRP), as a receptor of apolipoprotein E (APOE), APP, and alpha2 macroglobulin (alpha2-M), keeps the balance between degeneration and production of beta-amyloid protein (Abeta) clearance. Its gene had been defined as a candidate gene for AD, but the results were not universal. Total 496 AD patients and 478 controls were recruited in Chinese Han population and real-time PCR was used to detect the polymorphism of LRP C766T. Multiple logistic regression, Chi-square test and survival analysis were performed to explore the association. The distribution of LRP genotypes and alleles was significantly different between cases and controls, and T allele could reduce the risk for developing AD (OR of CT genotype: 0.57; 95% CI: 0.38-0.85, rho=0.003; OR of T allele: 0.57; 95% CI: 0.39-0.83, rho=0.003). TT genotype carriers had 5 years later for developing AD compared with CC genotype carriers, but survival analysis did not conform this (LRP TT vs. CT and CC log rank chi(2)=2.71, rho=0.26). The distribution of LRP C766T genotypes and alleles was different among different severity stratified by MMSE yet (rho=0.26). Our data suggested that the polymorphism of LRP C766T was strongly associated with AD and T allele might be a protective factor for AD in Chinese Han population.     

广东省汉族人群与西藏自治区夏尔巴人群SP-A基因单核苷酸多态性研究

目的：通过对肺表面活性物质相关蛋白A（surfactantproteinA，SP-A）基因单核苷酸多态性（single nucleotide polymorphism，SNP）在广东汉族人群和西藏夏尔巴人群中的分布特点的分析，探讨其与高原低氧环境适应性的关系。方法：应用序列特异性引物-聚合酶链反应（polymerase chain reacion-sequencespecific primer，SSP-PCR）方法，对90名广东汉族人和104例西藏夏尔巴人SP-A基因进行检测。结果：在104例夏尔巴人和90名汉族人之间SP-A1基因1544位点各基因型和等位基因分布无统计学差异（P〉0．05）；在SP-A1基因3241位点C／C，C／T和T／T3种基因型的构成比在夏尔巴人分别为75．0％，22．1％和2．9％，而广东汉族人群为50，0％，35．6％和14．4％，夏尔巴人等位基因C、T的分布频率为86．1％和13．9％，而广东汉族为67．8％和32．2％，sP-A13241基因型和等位基因分布频率在两组之间比较差异有统计学意义（P〈0．05）；在SP-A2基因3265位点夏尔巴人C／C，A／C和A／A3种基因型的构成比分别为37．5％，53．8％和8．7％．广东汉族为63．3％，30．O％和6．7％，两组比较差异有统计学意义（P〈0．05），而且夏尔巴人等位基因C、A的分布频率为64．4％和35．6％，而广东汉族人群为78．3％和21．7％，两组比较差异有统计学意义（P〈0．05）。结论：夏尔巴人SP-A2基因的3265位点基因型和等位基因分布与广东汉族人均有显著性差异，该位点SNP可能与夏尔巴人对高原低氧适应有关。     

南疆地区维吾尔族与汉族健康体检人群多层螺旋CT血管成像壁冠状动脉及其粥样硬化的比较

目的 分析南疆地区汉族及维吾尔族健康体检人群冠状动脉CT血管成像(CCTA)中壁冠状动脉(MCA)检出率、MCA合并粥样硬化检出率以及MCA发生部位及其差异。方法 回顾性分析2016年3月—2016年7月喀什地区第一人民医院3 461例维吾尔族及汉族健康体检人群CCTA资料,其中维吾尔族1 987例,男1 267例、女720例,年龄25~79(48.43±10.61)岁;汉族1 474例,男944例、女530例,年龄28~74岁(47.79±10.56)岁。采用双源螺旋CT进行CCTA,并进行曲面重建(CPR)、最大密度投影(MIP)及容积再现(VR)重组,比较汉族及维吾尔族人群MCA检出率、MCA合并粥样硬化检出率、MCA发生部位的差异。结果 3 461例健康人群中,MSCT发现MCA 1 111例,占32.10%(1 111/3 461);其中汉族人群检出率为34.32%(506/1 474),维吾尔族人群检出率为30.45%(605/1 987),差异有统计学意义(χ²=5.846, P＜0.05)。汉族人群组1 474例中MCA伴发粥样硬化为136例、检出率为9.23%(136/1 474),维吾尔族人群组1 987例中MCA伴发粥样硬化为268例、检出率为13.49%(268/1 987),有统计学意义(χ²=14.902, P＜0.01)。壁冠状动脉1 111例中,发生在左前降支的为1 001例,占90.09%(1 001/1 111),其中汉族432例,维吾尔族569例;发生在左回旋支为42例,占3.78%(42/1 111),汉族31例,维吾尔族11例;发生在第一对角支为55例,占4.95%(55/1 111),汉族37例,维吾尔族18例;发生在右冠状动脉5例,占0.45%(5/1 111),汉族3例,维吾尔族2例;发生2支以上的8例,汉族3例,维吾尔族5例,占0.72%;两族人群MCA发生部位差异有统计学意义(χ²=26.522, P＜0.01)。结论 南疆地区维吾尔族、汉族健康体检人群CCTA显示的MCA检出率、MCA合并粥样硬化检出率以及MCA发生部位均存在差异。     

Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population.

The low density lipoprotein receptor-related protein gene (LRP) is a good candidate gene for Alzheimer's Disease (AD). Its protein is involved in the physiopathology of AD and has been found in senile plaques; on the other hand, LRP is located in 12q, a region in which genetic linkage to AD was reported. Two common polymorphisms, a tetranucleotide repeat in the 5' untranslated region and a single nucleotide polymorphism at position 766 in exon 3, were found to be associated with AD, but contradictory results were obtained in subsequent association studies. In the absence of clear hypotheses concerning the association of these polymorphisms with AD and their functional role, our objective was to test the association between AD and the two LRP polymorphisms in a large French case-control sample (274 Caucasian AD patients and 290 matched controls) using haplotype analysis. First, the separate study of each polymorphism showed no significant difference in genotype and allele frequencies between AD cases and controls. Second, strong linkage disequilibrium was found between alleles of the two polymorphisms in controls and in cases and the linkage disequilibrium between the 91 bp and C alleles were opposite in cases and in controls. Third, we found that the frequency of the 91-C haplotype was higher in cases than in controls, but the type I error was 0.061, slightly higher than the conventional one of 5%. The haplotype frequencies did not vary significantly as a function of age and APOE epsilon4 status. One interest in this study is the use of the haplotype analysis, which can be used to combine information from several polymorphisms, taking into account their dependence.     

宁夏回、汉族群体LIN28B基因多态性

目的 探讨LIN28B基因rs314277和rs314276位点在宁夏地区回、汉族群体中及不同性别间的分布特征。方法 研究对象来自宁夏医科大学2011级健康学生共705例,其中男性回、汉族分别为144例和167例,女性回、汉族分别为188例和206例。SNPs分型均采用基因测序来检测。 结果 宁夏回族群体LIN28B基因两个多态位点基因型频率及等位基因频率分别为：男性rs314277 (AC:4.5%,CC:38.9%; A:2.3%, C:41.1%); rs314276(AA: 2.7%,AC:21.4%,CC:19.3%; A:13.4%,C:30.0%);女性rs314277(AA: 0.6%,AC:7.5%,CC:48.5%; A:4.4%, C:52.3%); rs314276(AA:3.3%,AC:28.9%,CC:24.4%;A:17.8%,C:38.9%);宁夏汉族群体LIN28B基因两个多态位点基因型频率及等位基因频率分别为：男性rs314277(AC:3.2%, CC:41.6%; A:1.6%, C:43.2%); rs314276(AA: 4.6%,AC:17.4%, CC:22.8%; A:13.3%, C:31.5%);女性rs314277(AC:4.6%, CC:50.7%; A:2.3%, C:52.9%); rs314276(AA: 4.8%,AC:18.8%,CC:31.6%; A:14.2%, C:41.0%)。 结论 宁夏人群LIN28B基因rs314277多态性位点等位基因频率在回、汉族之间差异有显著性(P<0.05);rs314276多态性位点基因型频率在回、汉族之间差异有显著性(P<0.05);LIN28B基因两个多态性位点在宁夏不同性别之间差异无显著性(P>0.05);宁夏人群两个多态性位点基因型和等位基因型频率的分布与人类基因组计划扫描所得不同种族人群相比差异有显著性(P<0.05)。     

ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese

The frequencies of selected alleles in the ABO, Rh, MNS, Duffy, Kidd, Yt, Scianna, and Colton blood group systems were determined among four indigenous Chinese ethnic populations: Han, Tajik, She, and Yugu. Genotypes were determined by PCR or PCR with sequence specific primers (PCR-SSP). In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and e were 0.22 and 0.78, respectively. Among D- Hans, the frequencies of C and c alleles were 0.23 and 0.77 and the frequencies of E and e were 0.04 and 0.96, respectively. The frequencies of M and N alleles were 0.478 and 0.522 among Hans and 0.655 and 0.345 among Tajiks, respectively. The frequencies of Fya and Fyb alleles were 0.94 and 0.06 among Hans and 0.98 and 0.02 among Shes, respectively. The frequencies of Jka and Jkb alleles were 0.49 and 0.51 among Hans and 0.56 and 0.44 among Shes, respectively. The frequency of the Yta allele was 1.00 among Hans. The frequencies of Yta and Ytb alleles were 0.94 and 0.06 among Tajiks, respectively. The frequency of the Sc1 allele was 1.00 in both Han and Tajik ethnic populations. The frequency of the Coa allele was 1.00 in Han, She, and Tajik ethnic populations.     

新疆维、哈两民族载脂蛋白E等位基因多态性与冠心病关联性研究

目的:对比分析新疆维、哈两民族共411人ApoE等位基因多态性与冠心病相关性;同时进行等位基因频率的对比分析。方法:利用酚-氯仿法抽提提取DNA,再将PCR产物进行纯化。SNaPshot多重单碱基延伸反应纯化后得到的延伸产物在ABI3130XL基因分析仪上进行测序。结果:维、哈两民族对照组与冠心病组之间,冠心病与冠心病组之间E2、E3、E4各单倍体,各基因型阳性率居于相同水平P>0.05)。结论:新疆维、哈两民族ApoE等位基因阳性率水平无统计学差异。     

脂联素基因+45位T/G多态性与2型糖尿病遗传易感性的相关性

目的 研究脂联素基因单核苷酸多态性(SNP)45(T/G)位点与宁夏汉族人群2型糖尿病之间的关系.方法 100例2型糖尿病患者和101例正常对照者,采用聚合酶链式反应--限制性内切酶长度多态性(PCR-RFLP)技术,对脂联素基因SNP45多态性位点进行基因分型,同时测定代谢参数.结果 2型糖尿病组SNP45位点GG基因型频率和G等位基因频率均高于正常对照组(P＜0.05).结论 脂联素基因的SNP45多态性位点与宁夏汉族人群中2型糖尿病相关;GG基因型者具有2型糖尿病高易感性.     

中国汉族、维吾尔族和哈萨克族人MDR1-C3435T基因多态性研究

目的了解MDR1-C3435T的基因多态性在汉族、维吾尔族和哈萨克族健康人群中的分布差异,为临床用药提供参考。方法用PCR-RFLP的方法检测汉族、维吾尔族和哈萨克族MDR1-C3435T等位基因突变位点的分布情况。计算各民族基因型频率,并与已报道的其他民族的基因型频率和等位基因频率进行比较。结果 MDR1-C3435T基因在汉族、维吾尔族和哈萨克族三个民族中最常见的等位基因是MDR1-3435T,频率依次为汉族43.3%、维吾尔族58.0%和哈萨克族56.9%。等位基因MDR1-3435T在汉族中的发生频率显著低于维吾尔族和哈萨克族,而突变频率在维吾尔族和哈萨克族之间则无明显差异。汉族的基因突变发生频率与其他亚洲人相似,与高加索人差异显著;而维吾尔族和哈萨克族的发生频率介于亚洲人和高加索人之间。结论汉族、维吾尔族和哈萨克族的MDR1-C3435T基因型分布有明显的差异,对临床用药将产生显著影响。     

Lack of interaction between LRP1 and A2M polymorphisms for the risk of Alzheimer disease

Alzheimer disease (AD) has a heterogeneous aetiology, involving genetic and environmental factors. Low-density lipoprotein receptor-related protein 1 (LRP1), alpha-2-macroglobulin (A2M) and apolipoprotein E (APOE) are involved in molecular pathways leading to beta-amyloid deposition. Three polymorphic sites in these genes (APOE-?2/?3/?4, A2M-Ile/Val and LRP1-C/T) have been associated with AD, but the results were not univocal. We carried out a case-control study to investigate the association between these polymorphisms and the risk of developing AD and their possible interaction. We recruited 125 AD patients who fulfilled the diagnostic criteria proposed by NINCDS-ADRDA for probable or possible AD and 310 controls subjects. PCR was used to detect the polymorphisms. ORs and 95% CIs were estimated using logistic regression analysis. The OR for subjects carrying at least one allele Val (A2M-Val+) in their genotypes was 1.52 (95% CI 1.00–2.31; p = 0.05); for subjects carrying at least one allele C (LRP1-C+), 1.58 (95% CI 1.00–2.50; p = 0.05); for subjects carrying at least one allele ?4 (APOE-?4+), 3.1 (95%CI 1.87–5.00; p < 0.001). The coexistence of at least one allele Val (A2M-Val+) and one allele C (LRP1-C+) increased up two times the risk of AD (OR 2.32; 95% CI 1.23–4.35; p < 0.009). No evidence of significant interaction has been found between the studied polymorphisms (p > 0.05). In conclusion our study suggests that LRP1-C/T, A2M-Ile/Val and APOE-?2/?3/?4 polymorphisms are associated with AD.