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1.
安徽省宁国县畲族群体HLA抗原分布   总被引:1,自引:0,他引:1  
对安徽宁国县畲族 118人进行了HLA- A、B位点分型。检出A位点抗原 9型 ,B位点抗原 13型。A1 、A3、B5、B7、B12 、B13、B17、B22 基因频率分别为:0.0084、 0.0170、 0.0708、0.0041、0.0284、0.1670、 0 .0494、0.0922。结果表明 ,宁国县畲族HLA基因分布基本上符合我国南方人群的特征。  相似文献   

2.
为发掘小麦小穗粒数相关基因位点,以384个重要小麦品种(系)组成的自然群体为材料,利用3个环境获得的表型和55K SNP芯片分型数据进行全基因组关联分析。结果发现,142个SNP和小穗粒数显著关联,解释的表型变异范围为3.27%~6.09%。有8个SNP在2或3个环境下与小穗粒数显著关联,其中AX-109986855、AX-109875224和AX-109843323位于2D染色体523.12~526.25 Mb区段,AX-111054388和AX-110671159在2B染色体上物理距离仅0.62 Mb。这8个SNP位点中,每个SNP的2个等位变异在3个环境的小穗粒数均达到显著水平(P<0.01),例如,2D染色体上AX-109843323位点G/G等位变异在3个环境的平均小穗粒数分别比C/C等位变异增加0.32、0.37和0.39粒。8个SNP位点的优异等位变异在供试材料的分布比例为5.20%~76.80%,其中7个优异等位变异的分布频率低于45.00%。进一步分析小穗粒数优异等位变异对穗粒数的影响,发现8个SNP位点具有优异等位变异的材料穗粒数(48.45~53.61粒)明...  相似文献   

3.
实验旨在研究中国汉族人群心脏钠离子通道α亚单位(voltage-gated sodium channel type Ⅴ,SCN5A)基因的单核苷酸多态性(single nucleotide polymorphism,SNP)及其分布。应用荧光标记自动测序法测定120名非亲缘关系中国南方汉族人群的SCN5A基因序列,确定其单核苷酸多态位点及基因型。结果如下,在中国南方汉族人群中共检测到5个SNPs:3个位于编码区,另2个分别位于3’侧翼区和intron23邻接供体剪接位点的区域。各个SNP在基因中呈不均匀分布,其基因频率分别为G87A(A29A)27.5%,A1673G(H588R)10.4%,4245+82A>G 32.8%,C5457T(D1819D)41.3%和G6174A44.9%。其中G87A(A29A),G6174A和4245+82A>G为新发现的SNP。A1673G(H588R)的基因频率在中国南方汉族人群、日本人群和美国人群之间无显著差异(P>0.05)。C5457T(D1819D)在中国南方汉族人群和日本人群中的分布非常接近(P>0.5),但都明显高于美国人群中的分布(均P<0.005)。各SNP在不同性别中的分布无显著差异(均P>0.05)。S1102Y及其余10个国外已经报道的多态位点在本研究中未检测到。各SNP等位基因频率在人群中的分布符合Hardy—Weinberg平衡。结果提示,SCN5A基因SNP具有较大的民族差异。  相似文献   

4.
目的:探讨葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性之间的相关性.方法:选取185例痛风患者和300例正常对照者,提取基因组DNA,采用聚合酶链式反应(PCR技术),特异性扩增GLUT9基因所需要的目的片段,对扩增的目的片段进行测序后,比较痛风组和正常对照组的基因型频率及等位基因频率分布情况.结果:女性痛风组中GLUT9基因的启动子区rs13124007和rs6805116两个位点的基因型频率分布与正常对照组相比,统计学上无明显的差异(X2=0.906,P=0.636;X2=3.335,P=0.189),rs13124007 SNP位点的C等位基因频率和rs6850166SNP位点的A的等位基因频率与正常对照组相比也无明显的统计学差异(X2=0.506,P=0.477;X=3.268,P=0.071).结论:葡萄糖转运体9(GLUT9)基因启动子区的rs 13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性无明显的相关性.  相似文献   

5.
目的:分析广西壮族人群EBI3基因rs6613A/T、rs4905A/G多态性分布特点。方法:采用单碱基延伸的PCR技术对168例广西壮族人群EBI3 rs6613 A/T和EBI3 rs4905A/G进行多态性检测,对比国际人类基因组计划(Hap Map)公布的中国北京人、日本人、非洲人和意大利人的SNP分型数据,分析5个人群rs6613 A/T、rs4905A/G位点的基因型和等位基因频率差异。结果:在广西壮族人群中,EBI3基因rs6613 A/T位点AT基因型最常见,约为49.4%;T等位基因频率最高,约为52.1%;rs4905A/G多态性位点AC基因型最常见,约为48.2%;C等位基因频率最高,约为50.9%。EBI3基因型及等位基因频率分布于性别无显著相关性(P0.05)。广西壮族人群EBI3基因rs6613A/T位点基因型和等位基因频率与北京人差异无统计学意义(P0.05),但与非洲人、日本人、意大利人差异具有统计学意义(P0.05);EB-13基因rs4905A/G位点基因型和等位基因频率与北京人和日本人差异无统计学意义(P0.05),但与非洲人和意大利人比较差异具有统计学意义(P0.01)。结论:EBI3基因rs6613 A/T和EB-13 rs4905A/G多态性位点基因型和等位基因在广西壮族人群中的分布频率与其他种族和地区人群相比存在差异,这种差异可能是导致某些疾病在不同人群发病率和临床表现存在差异的原因之一。  相似文献   

6.
聂歆赢  褚志华  田世坤  聂艳芳 《生物磁学》2009,(14):2655-2656,2696
目的:研究TNF-α基因单核苷酸多态性(SNP)308G—A位点与新疆地区维吾尔族人乙型肝炎之间的关系。方法:以聚合酶链式反应-限制性内切酶长度多态性(PCR-RFLP)技术,对120例乙肝患者和120例正常对照者TNF—α基因SNP308多态性位点进行基因分型。结果:SNP308多态性位点G/G基因型和G/A基因型频率在病例组为77%和23%,正常对照组为88%和12%,2组基因型和等位基因频率分布差异有显著性(p〈0.05)。结论:TNF—α基因启动子308多态性位点与新疆维吾尔族人乙肝有明显相关性。  相似文献   

7.
目的:研究促红细胞生成素(EPO)基因T3541G单核苷酸多态性(SNP/C1772T)在中国北方汉族人群中的分布特征.方法:通过PCR-RFLP实验方法,解析206名中国北方汉族人群EPO基因SNP/T3541G.结果:中国北方汉族人辟EPO基因SNP/T3541G多态位点的基因型符合Hardy-Weinberg遗传...  相似文献   

8.
王希波  王灿  王琼  李长贵 《生物磁学》2013,(13):2493-2497
目的:探讨葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性之间的相关性。方法:选取185例痛风患者和300例正常对照者,提取基因组DNA,采用聚合酶链式反应(PCR技术),特异性扩增GLUT9基因所需要的目的片段,对扩增的目的片段进行测序后,比较痛风组和正常对照组的基因型频率及等位基因频率分布情况。结果:女性痛风组中GLUT9基因的启动子区rs13124007和rs6805116两个位点的基因型频率分布与正常对照组相比,统计学上无明显的差异(X2=0.906,P=0.636;X2=3.335,P=0.189),rs13124007 SNP位点的C等位基因频率和rs6850166SNP位点的A的等位基因频率与正常对照组相比也无明显的统计学差异(X2=0.506,P=0.477;X2=3.268,P=0.071)。结论:葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性无明显的相关性。  相似文献   

9.
为探讨中国北京汉族人群(CHB)和日本东京人群(JPT)肌球蛋9B(MYO9B)单核苷酸基因多态性(SNP)、单体域和单体型的差异,我们利用人类基因组单体型图(Hap Map)公布的Ⅲ期MYO9B SNP数据,通过Haploview4.2软件选择合格SNP、标签SNP(tagSNP)、估计最小等位基因频率(minimum allele frequency,MAF)及构建单体域,并比较其差异。然后通过Phase2.1软件构建特殊tagSNP位点单体型并行置换检验以比较两个人群所构建单体型的差异。研究结果表明,从CHB及JPT MYO9B中分别筛选出52个及50个合格SNP,其中49个是一致的。两人群合格SNP MAF频数最高组段及最低组段相同,且整体比较无差别(p=0.07)。于两人群MYO9B各构建7个和5个单体域,其中两个基本相同,一个单体域为CHB独有,其余在两人群分布不同但互有重叠。从两人群MYO9B分别筛选出23个及17个tagSNP,其中17个tagSNP相同,另6个SNP在CHB单独成为tagSNP而不与其他SNP相关联。利用两人群MYO9B特殊tagSNP位点共构建10个频率2%的相同的单体型,累计频率分别为51.37%和51.99%,且两者均以TCTCG和TTTCG单体型为主。两人群MYO9B特殊位点单体型构成基本相同(p=0.765)。综上所述,CHB和JPT的MYO9B SNP及单体域特征以共性为主,与人群的地域和种族属性一致;北京汉族与东京人群特殊SNP位点构建的MYO9B单体型构成及频率无差别。  相似文献   

10.
目的:探究猪apoC3基因多态性,为进一步探讨其对脂肪沉积的影响和表达调控等研究提供依据。方法:选取具有不同脂肪沉积特点的3个猪种(可乐猪、贵州白香猪和大约克猪)构建品种DNA池并进行测序,结合各SNP位点测序峰高比值估算等位基因频率,并利用在线软件对不同基因型的转录结合位点及mRNA二级结构进行预测。结果:在3个猪种的apoC3基因中共发现17个SNPs(2个位于5’侧翼区;1个位于外显子3中,为同义突变;1个位于3’非翻译区,其它13个分别位于3个不同内含子中),其中C813G变异增加了一个转录因子GATA-2结合位点,G2280A变异导致mRNA二级结构最小自由能增加0.4kkal/mol。结论:不同猪种间apoC3基因SNPs位点等位基因频率差异较大,而apoC3基因编码区相对保守。  相似文献   

11.
Cardiovascular diseases associated with molecular variants of individual components of renin-angiotensin system are reported to constitute inherited predisposition in humans. Molecular variant frequencies are race- and population-dependent. We examined frequencies of the M235T variant of angiotensinogen gene and I/D polymorphism of gene for angiotensin-converting enzyme in Slovak population: in hypertensive patients, coronary heart disease (CHD), dilated cardiomyopathy (DCM) and myocardial infarction (MI) patients compared to healthy subjects. Frequency of M235T was significantly increased in hypertensive, CHD and DCM patients compared to controls (0.48 and 0.50 vs. 0.40, p < 0.001). Significant increase in D allele frequency compared to controls was observed in the group of patients after MI (0.58 vs. 0.50, p < 0.001), CHD (0.59 vs. 0.50, p < 0.001) and DCM (0.60 vs. 0.50, p < 0.001). These results correlate with other Caucasian populations. In Slovak population, M235T is associated with increased blood pressure and D allele of ACE gene is associated with MI, chronic CHD and DCM, rather than with hypertension. Our results suggest that in Slovak population, D alelle and M235T variant represent a risk factor for several cardiovascular diseases and these polymorphisms might have a cumulative effect on development of cardiovascular diseases.  相似文献   

12.
He MA  Zhang X  Wang J  Cheng L  Zhou L  Zeng H  Wang F  Chen Y  Xu Z  Wei Q  Hu FB  Wu T 《Cell stress & chaperones》2008,13(2):231-238
Background High levels of circulating heat shock protein 60 (Hsp60) and antibody to human Hsp60 have been associated with greater risk of coronary heart disease (CHD) in several studies, but associations between polymorphisms of the hsp60 gene and CHD risk have not been investigated. Methods By resequencing DNA from 30 unrelated Han Chinese and using HapMap Phase I Chinese data of hsp60 gene, we selected four tagging single nucleotide polymorphisms (tagSNPs) named rs2340690, rs788016, rs2305560, and rs2565163, and determined their frequencies in 1,003 Chinese CHD patients and 1,003 age- and sex-frequency-matched controls. Furthermore, we used PHASE 2.0 software to reconstruct haplotypes and logistic regression to control for potential confounders in multivariate analyses. Results We found 13 SNPs in hsp60 gene (including four novel SNPs) in Han Chinese subjects. Our results showed no significant differences in four selected SNPs in patients with CHD and controls after adjusting for other conventional risk factors and stratifying by age, sex, smoking status, past history of hypertension and DM; however, our results showed that subjects with the GCTC haplotype had about twofold higher risk of CHD than those with the GTTC haplotype (OR = 1.91, 95%CI: 1.26–2.89, P = 0.002). Conclusions Our results suggest that the GCTC haplotype in the hsp60 gene is significantly associated with higher CHD risk in a Chinese population. The first two authors contributed equally to this paper.  相似文献   

13.
Two novel single nucleotide polymorphisms (SNPs; rs7529229 and rs2228145) in the interleukin-6 receptor (IL6R) gene have recently been associated with coronary heart disease (CHD) in a European population. We sought to replicate this finding and to investigate associations of these two SNPs with the severity and clinical phenotypes of premature CHD in a Chinese Han population. A total of 418 patients were studied, including 187 cases with coronary stenosis ≥50 % or acute myocardial infarction (males < 55 years and females < 65 years) and 231 controls without documented CHD. A ligase detection reaction was performed to detect rs7529229 and rs2228145. There were no differences between the controls and premature CHD groups in the frequencies for the three genotypes and alleles of rs7529229 and rs2228145 (all P > 0.05), nor did they differ between the two groups when grouped by gender (all P > 0.05). There were also no associations between these two SNPs and the severity of coronary lesions or clinical phenotypes of premature CHD (all P > 0.05). Our results do not support an association between rs7529229 or rs2228145 with premature CHD in the Chinese Han population. Further studies are warranted to elucidate the role of these two SNPs in the development of atherosclerosis and CHD.  相似文献   

14.
Single nucleotide polymorphisms (SNPs) in loci 1p13 and 9p21 have previously been found to be associated with incident coronary heart disease (CHD). This study aimed to investigate whether these SNPs show associations with fatal CHD in a population-based cohort study after adjustment for socioeconomic- and lifestyle-related CHD risk factors not commonly included in genetic association studies. Using the population-based Cohort of Norway (CONOR), a nested case-cohort study was set up and DNA from 2,953 subjects (829 cases and 2,124 non-cases) were genotyped. The association with fatal CHD was estimated for four SNPs, three from locus 1p13 and one from locus 9p21. Multivariable Cox regression was used to estimate unstratified and gender-stratified hazard ratios while adjusting for major CHD risk factors. The associations between three SNPs from locus 1p13 and non-HDL cholesterol levels were also estimated. Men homozygous for the risk alleles on rs1333049 (9p21) and rs14000 (1p13) were found to have significantly increased hazard ratios in crude and adjusted models, and the hazard ratios remained statistically significant when both genders were analyzed together. Adjustment for additional socioeconomic- and lifestyle-related CHD risk factors influenced the association estimates only slightly. No significant associations were observed between the other two SNPs in loci 1p13 (rs599839 and rs646776) and CHD mortality in either gender. Both rs599839 and rs646776 showed significant, gradual increases in non-HDL cholesterol levels with increasing number of risk alleles. This study confirms the association between 9p21 (rs1333049) and fatal CHD in a Norwegian population-based cohort. The effect was not influenced by several socioeconomic- and lifestyle-related risk factors. Our results show that 1p13 (rs14000) may also be associated with fatal CHD. SNPs at 1p13 (rs599839 and rs646776) were associated with non-HDL cholesterol levels.  相似文献   

15.

Background/Aim

Recent genome-wide association studies have identified several loci influencing lipid levels. The present study focused on the triglycerides (TG)-associated locus, the APOA4-APOA5-ZNF259-BUD13 gene cluster on chromosome 11, to explore the role of genetic variants in this gene cluster in the development of increasing TG levels and coronary heart disease (CHD).

Methodology/Principal Findings

Six single nucleotide polymorphisms (SNPs), rs4417316, rs651821, rs6589566, rs7396835, rs964184 and rs17119975, in the APOA4-APOA5-ZNF259-BUD13 gene cluster were selected and genotyped in 5374 healthy Chinese subjects. There were strong significant associations between the six SNPs and TG levels (P<1.0×10−8). Moreover, a weighted genotype score was found to be associated with TG levels (P = 3.28×10−13). The frequencies of three common haplotypes were observed to be significantly different between the high TG group and the low TG group (P<0.05). However, no significant effects were found for the SNPs regarding susceptibility to CHD in the Chinese case-control populations.

Conclusions/Significance

This study highlights the genotypes, genotype scores and haplotypes of the APOA4-APOA5-ZNF259-BUD13 gene cluster that were associated with TG levels in a Chinese population; however, the genetic variants in this gene cluster did not increase the risk of CHD in the Chinese population.  相似文献   

16.
BackgroundNumerous risk prediction algorithms based on conventional risk factors for Coronary Heart Disease (CHD) are available but provide only modest discrimination. The inclusion of genetic information may improve clinical utility.MethodsWe tested the use of two gene scores (GS) in the prospective second Northwick Park Heart Study (NPHSII) of 2775 healthy UK men (284 cases), and Pakistani case-control studies from Islamabad/Rawalpindi (321 cases/228 controls) and Lahore (414 cases/219 controls). The 19-SNP GS included SNPs in loci identified by GWAS and candidate gene studies, while the 13-SNP GS only included SNPs in loci identified by the CARDIoGRAMplusC4D consortium.ResultsIn NPHSII, the mean of both gene scores was higher in those who went on to develop CHD over 13.5 years of follow-up (19-SNP p=0.01, 13-SNP p=7x10-3). In combination with the Framingham algorithm the GSs appeared to show improvement in discrimination (increase in area under the ROC curve, 19-SNP p=0.48, 13-SNP p=0.82) and risk classification (net reclassification improvement (NRI), 19-SNP p=0.28, 13-SNP p=0.42) compared to the Framingham algorithm alone, but these were not statistically significant. When considering only individuals who moved up a risk category with inclusion of the GS, the improvement in risk classification was statistically significant (19-SNP p=0.01, 13-SNP p=0.04). In the Pakistani samples, risk allele frequencies were significantly lower compared to NPHSII for 13/19 SNPs. In the Islamabad study, the mean gene score was higher in cases than controls only for the 13-SNP GS (2.24 v 2.34, p=0.04). There was no association with CHD and either score in the Lahore study.ConclusionThe performance of both GSs showed potential clinical utility in European men but much less utility in subjects from Pakistan, suggesting that a different set of risk loci or SNPs may be required for risk prediction in the South Asian population.  相似文献   

17.
pcsk9/NARC-1在脂质代谢和神经系统中的作用   总被引:3,自引:0,他引:3  
人类前蛋白转化酶枯草溶菌素9基因(pcsk9)编码神经细胞凋亡调节转化酶-1蛋白(NARC-1),该基因属于蛋白转化酶家族. pcsk9/NARC-1通过调节细胞表面低密度脂蛋白受体,从而在胆固醇代谢中发挥重要作用;其两种不同突变类型,可导致血液中胆固醇水平完全相反的变化,出现低胆固醇血症或高胆固醇血症.最近发现, pcsk9/NARC-1可能还影响神经系统分化,调节神经元凋亡. pcsk9/NARC-1与动脉粥样硬化(As)和阿尔茨海默病(AD)的发生可能存在潜在联系.考虑到载脂蛋白E(ApoE)在As和AD中也都起着重要作用,探讨pcsk9/NARC-1与ApoE之间可能的相关性对阐明两者在胆固醇代谢紊乱和神经系统疾病中的作用可能具有重要意义.  相似文献   

18.

Background

MiR-218 plays an important role in heart development in zebrafish. pri-miR-218 rs11134527 variant is associated with cervical cancer carcinogenesis. Therefore, we hypothesized that single nucleotide polymorphism (SNPs) in pri-miR-218 might influence susceptibility to sporadic congenital heart disease (CHD).

Methods and results

We conducted a case–control study of CHD in a Chinese population to test our hypothesis by sequencing and genotyping pri-miR-218 in 1116 CHD cases and 1219 non-CHD controls. We identified one SNP rs11134527 located in pri-miR-218 sequence. Logistic regression analyses showed that there was no significant association in genotype and allele frequencies of pri-miR-218 rs11134527 A/G polymorphism between CHD cases in overall or various subtypes and the control group. However, real-time PCR analysis showed that rs11134527 allele G significantly increased mature miR-218 expression. In vitro binding assays further revealed that the rs11134527 variant affects miR-218-mediated regulation of Robo1.

Conclusions

This is the first study to investigate the relationship between miR-218 and CHD cases. Our results demonstrate that the functional variant rs11134527 in pri-miR-218 has no major role in genetic susceptibility to sporadic CHD, at least in the population studied here.  相似文献   

19.
Diabetic nephropathy (DN) is a major diabetic complication. However, the initiating molecular events triggering DN are unknown. MicroRNAs (miRNAs) have recently been identified as regulators that modulate the target gene expression and are involved in DN. However, the evidence of the mechanism is still insufficient in human samples. In this study, microRNA microarray assay was used to study gene differential expression profiles in DN and diabetes mellitus (DM) patients. One of the specific differentially expressed microRNAs, let-7a, was down-expressed in DN. Additionally, the expression of let-7a was also decreased in DN by real-time RT PCR in the patients' samples. Moreover, single nucleotide polymorphism (SNP) analysis was used to evaluate the relationship between three SNPs in the regulatory region of let-7a-2 gene and the risk of DN in the Chinese Han population by means of PCR-restriction fragment length polymorphism (RFLP-PCR). Also, the genotype and allele frequencies of let-7a-2 polymorphism were tested in 274 individuals, including 108 DN, 104 DM patients and 62 health control individuals (CON). It was found that a variant rs1143770 and the distributions of CT/TT genotypes were significantly different in three groups, and the CT + TT genotypes frequencies were significantly higher in DN and DM groups than that in CON group. In conclusion, let-7a-2 might participate in the regulation of the occurrence of DN, and a potential variant rs1143770 was significantly associated with the increased risk for DN.  相似文献   

20.

Background

Multiple studies investigated the associations between serum uric acid and coronary heart disease (CHD) risk. However, further investigations still remain to be carried out to determine whether there exists a causal relationship between them. We aim to explore the associations between genetic variants in uric acid related loci of SLC2A9 and ABCG2 and CHD risk in a Chinese population.

Results

A case–control study including 1,146 CHD cases and 1,146 controls was conducted. Association analysis between two uric acid related variants (SNP rs11722228 in SLC2A9 and rs4148152 in ABCG2) and CHD risk was performed by logistic regression model. Adjusted odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Compared with subjects with A allele of rs4148152, those with G allele had a decreased CHD risk and the association remained significant in a multivariate model. However, it altered to null when BMI was added into the model. No significant association was observed between rs11722228 and CHD risk. The distribution of CHD risk factors was not significantly different among different genotypes of both SNPs. Among subjects who did not consume alcohol, the G allele of rs4148152 showed a moderate protective effect. However, no significant interactions were observed between SNP by CHD risk factors on CHD risk.

Conclusions

There might be no association between the two uric acid related SNPs with CHD risk. Further studies were warranted to validate these results.

Electronic supplementary material

The online version of this article (doi:10.1186/s12863-015-0162-7) contains supplementary material, which is available to authorized users.  相似文献   

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