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1.
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   

2.
We studied the population structure of cotton bollworm (CBW), Helicoverpa armigera (Hübner) (Lepidoptera: Noctuidae), in Xinjiang, the largest cotton-growing region in China, using a fragment of cytochrome c oxidase subunit I (COI) gene. Alignments of all 192 COI sequences revealed 28 haplotypes including 23 in southern Xinjiang, 5 in eastern Xinjiang and 13 in northern Xinjiang. Negative and significant values of neutrality tests for the Tajima's D and Fu's FS parameters, combined with the high values of haplotype diversity (Hd), low values of nucleotide diversity (π) and a high number of low frequency haplotypes indicated a recent demographic expansion of Xinjiang CBW populations. Analysis of molecular variation (AMOVA) indicated low and non-significant genetic structure, regardless of geographical scale or crop, with most of genetic variation occurring within local CBW populations. Pairwise FST analyses also indicated low genetic differentiation. This demographic event and high gene flow could be responsible for the low genetic structure currently found. CBW populations in Xinjiang need to be considered as one panmictic unit in its management, especially for the design of refuges to delay the development of resistance by this migratory pest to transgenic Bt (Bacillus thuringiensis) cotton.  相似文献   

3.
Some novel members of extremely halophilic archaea, strains AJ 11, AJ 12 and AJ 13, were isolated from the Aularz Lake located in the Altun Mountain National Nature Reserve of Xinjiang, Uygur Autonomous Region in China. Partial DNA fragments encoding a bacteriorho-dopsin (BR), as well as for 16S rRNA of isolated strains, were amplified by PCR and their DNA sequences were determined subsequently. On the basis of homology and phylogenetic analysis of the 16S rDNA, we thought that the isolated strains forming a microbiological population are the members of the genus Natrinema. The results of genetic analysis, such as GC content, transition/transver-sion (Ti/Tv) rate ratios and synonymous substitution rates (Ks) indicate that the br fragments, with a high level of genetic divergence, are faced with both purifying selection and bias mutation pressure. The study provides the basis for use of species and BR proteins resources.  相似文献   

4.
《Endocrine practice》2021,27(5):478-483
ObjectiveTo investigate the prevalence of primary aldosteronism (PA) among participants with hypertension, evaluate the concordance of PA classification between adrenal computed tomography and adrenal venous sampling, and compare the outcomes of surgery and medication for unilateral PA.MethodsA prospective study was conducted among all inpatients with hypertension (n = 7594) at the National Center for Cardiovascular Diseases, China, from May 2016 to April 2018.ResultsOf the 7594 participants, 8.12% (n = 617) with plasma aldosterone-renin ratio ≥3.7 were possible PA cases. Three hundred sixty-seven cases with plasma aldosterone-renin ratio ≥3.7 and plasma aldosterone concentration ≥10 ng/dL were confirmed using the recumbent saline infusion test (69.20%, 182 of 263) or the captopril challenge test (66.5%, 69 of 104, P > .05). The prevalence of PA was 3.31% (n = 251). Of the 251 patients with PA, all of them had multiple comorbidities, and 49.40% (n = 124) had spontaneous hypokalemia. The concordance of PA classification between adrenal computed tomography and adrenal venous sampling was only 47.11%. The patients’ blood pressure declined to normal ranges in the adrenalectomy (85.71%, 30 of 35) and spironolactone (63.04%; 29 of 46) groups (P < .05). Furthermore, hypokalemia was normalized in the adrenalectomy (100.00%; 26 of 26) and spironolactone (94.74%; 18 of 19) groups.ConclusionIt is necessary to incorporate PA screening into routine practice for those with hypertension in the Chinese population. This will assist in ensuring that the best therapeutic schedule based on PA subtypes is devised. Additionally, as a result, it may contribute to restoring the blood pressure levels and reducing the prevalence of comorbidities in these patients with PA.  相似文献   

5.
以中国新疆伊犁地区的巩留县莫合镇库尔德宁、新源县交吾托海、霍城县大西沟和塔城地区的裕民县巴尔鲁克山4个种下居群的109个新疆野苹果实生株系为材料,利用8对苹果SSR引物进行群体遗传结构的研究。结果表明:8对SSR引物在4个居群中可平均扩增出16条带,其中巩留县居群多态性带数百分比最高为89.06%,各位点平均Nei基因多样度为0.257;4个群体共扩增出128个位点,在种级水平及巩留县、新源县、霍城县和裕民县4个居群水平多态性位点百分比分别为100%、88.28%、84.38%、87.50%、78.12%,种级水平Nei基因多样度(H=0.2619)和香农信息指数(I=0.4082)大于种下居群,4个种下居群Nei基因多样度和香农信息指数比较巩留县>霍城县>新源县>裕民县;巩留县居群和新源县居群遗传一致度最大,遗传距离最近;根据基因分化系数(GST=0.064)值,测得的基因流Nm为7.265。UPGMA聚类分析结果表明,巩留县和新源县居群遗传关系最近,霍城县居群次之,裕民县居群远离其他3个居群,巩留县、新源县、霍城县和裕民县4个居群是相对独立的群体,但同时存在部分基因交流。所有参数分析表明,巩留县遗传多样性最丰富,故在制定原位种质保护计划时应优先考虑巩留县居群。  相似文献   

6.
Happiness has been viewed as a temporary emotional state (e.g., pleasure) and a relatively stable state of being happy (subjective happiness level). As previous studies demonstrated that individuals with high subjective happiness level rated their current affective states more positively when they experience positive events, these two aspects of happiness are interrelated. According to a recent neuroimaging study, the cytosine to thymine single-nucleotide polymorphism of the human cannabinoid receptor 1 gene is associated with sensitivity to positive emotional stimuli. Thus, we hypothesized that our genetic traits, such as the human cannabinoid receptor 1 genotypes, are closely related to the two aspects of happiness. In Experiment 1, 198 healthy volunteers were used to compare the subjective happiness level between cytosine allele carriers and thymine-thymine carriers of the human cannabinoid receptor 1 gene. In Experiment 2, we used positron emission tomography with 20 healthy participants to compare the brain responses to positive emotional stimuli of cytosine allele carriers to that of thymine-thymine carriers. Compared to thymine-thymine carriers, cytosine allele carriers have a higher subjective happiness level. Regression analysis indicated that the cytosine allele is significantly associated with subjective happiness level. The positive mood after watching a positive film was significantly higher for the cytosine allele carriers compared to the thymine-thymine carriers. Positive emotion-related brain region such as the medial prefrontal cortex was significantly activated when the cytosine allele carriers watched the positive film compared to the thymine-thymine carriers. Thus, the human cannabinoid receptor 1 genotypes are closely related to two aspects of happiness. Compared to thymine-thymine carriers, the cytosine allele carriers of the human cannabinoid receptor 1 gene, who are sensitive to positive emotional stimuli, exhibited greater magnitude positive emotions when they experienced positive events and had a higher subjective happiness level.  相似文献   

7.
NYD-SP12 is a recently identified spermatogenesis-related gene with a pivotal role in human testis development. In this study, we analyzed between-species divergence and within-species variation of NYD-SP12 in seven representative primate species, four worldwide human populations, and 124 human clinical subjects. Our results indicate that NYD-SP12 evolves rapidly in both the human and the chimpanzee lineages, which is likely caused by Darwinian positive selection and/or sexual selection. We observed significant interpopulation divergence among human populations, which might be due to the varied demographic histories. In the association analysis, we demonstrated significant frequency discrepancy of a synonymous sequence polymorphism among the clinical groups with different sperm traits. [Reviewing Editor: Dr. Manyuan Long]  相似文献   

8.
Some novel members of extremely halophilic archaea, strains AJ11, AJ12 and AJ13, were isolated from the Aularz Lake located in the Altun Mountain National Nature Reserve of Xinjiang, Uygur Autonomous Region in China. Partial DNA fragments encoding a bacteriorhodopsin (BR), as well as for 16S rRNA of isolated strains, were amplified by PCR and their DNA sequences were determined subsequently. On the basis of homology and phylogenetic analysis of the 16S rDNA, we thought that the isolated strains forming a microbiological population are the members of the genus Natrinema. The results of genetic analysis, such as GC content, transition/transversion (Ti/Tv) rate ratios and synonymous substitution rates (Ks) indicate that the br fragments, with a high level of genetic divergence, are faced with both purifying selection and bias mutation pressure. The study provides the basis for use of species and BR proteins resources. __________ Translated from Hereditas (Beijing), 2007, 29(3): 376–380 [译自: 遗传]  相似文献   

9.
应用RT-PCR方法扩增到了我国1995~2004年20株IBV现地分离株的膜蛋白(Membrane,M)基因片段.序列测定表明,20株IBV分离株M基因开放阅读框由672~681bp组成,编码由223~226个氨基酸残基组成的多肽.与我国分离株LX4相比,M基因推导氨基酸序列的变异主要发生在2~17位、221~223位,其中4~6位存在氨基酸的插入和缺失,导致IBV毒株间M蛋白糖基化位点的差异.与GenBank中34株IBV参考毒株M蛋白基因推导氨基酸序列进行比较和分析,系统进化关系显示54株IBV毒株分属于5个进化群.我国IBV分离株M基因在进化关系上较为独立,主要分布在第Ⅱ群和第Ⅳ群,其中第Ⅱ群分离株和中国台湾毒株进化关系密切.此外,参考IBV国内分离株S1基因及N基因系统发育进化树的研究结果,并与M基因进行比较,表明我国IBV也存在着基因重组现象,尤其是疫苗毒和流行毒之间的重组.  相似文献   

10.
新疆桑属植物栽培居群的遗传多样性研究   总被引:3,自引:2,他引:1  
应用RAPD分子标记对新疆不同地区栽培的桑属植物2种3个分类群共11个居群进行了遗传多样性研究。结果表明,新疆桑属栽培植物中虽然存在较为丰富的遗传多样性,多态位点比率(PPB)为87.39%,Shannon多样性指数为0.3997,但在栽培居群内的遗传变异水平相对较低;在不同居群间遗传变异水平仔住很人差异,各居群的多态位点比率(PPB)为4.5%至45.95%,Shannon多样性指数为0.0312至0.2339;白桑(Morus alba L.)及其变种鞑靼桑(Morus alba L.var.tatarica)居群内的遗传变异水平远高于黑桑种(Morus nigra)。新疆桑属植物栽培居群内较低的遗传变异水平与其采用扦插等无性繁殖方式有关。分析全部的遗传变异显示,11个栽培居群之间的基因分化系数(Gst)为0.3541,其中桑及其变种9个居群间的基因分化系数为0.4597,黑桑种2个居群问的基因分化系数为0.4728。AMOVA分析表明,在全部遗传变异中,黑桑种和白桑种2个物种之间的遗传变异占59.16%,居群间遗传变异为17.46%。遗传距离和聚类分析也表明,黑桑种和白桑种及其变种鞑靼桑之间存在很大的遗传分化。  相似文献   

11.
应用RT-PCR方法扩增到了我国1995~1999年10株IBV现地分离株的核蛋白基因片段,并将其进行了克隆、序列测定及分析。结果发现,10株IBV分离株核蛋白基因均含有一个长1 230bp的ORF,编码由409个氨基酸残基组成的多肽,未发现碱基的插入和缺失。与GenBank中的20个IBV参考毒株核蛋白基因序列进行比较和分析,发现本研究分离的毒株主要分布于3个群中,该3群病毒主要包括我国IBV现地分离株。对n基因及其局部功能区序列比较发现,我国分离株与H120疫苗株N蛋白存在广泛的氨基酸变异。通过与s1基因系统发育进化树比较发现,我国IBV分离株存在基因重组现象。以上结果表明我国1995~1999年IBV毒株存在基因突变和基因重组现象。  相似文献   

12.
13.

Purpose

The aim of this study is to examine whether or not hepatocyte growth factor (HGF) genetic variations are associated with susceptibility to primary angle-closure glaucoma (PACG) in the Han Chinese population.

Methods

Three single-nucleotide polymorphisms (SNPs)–rs5745718, rs17427817, and rs3735520–in the HGF gene were genotyped in 238 adult patients with PACG and 287 age-, sex-, and ethnically matched healthy controls by using a polymerase chain reaction restriction fragment length polymorphism assay. Data was analyzed by χ2 analysis.

Results

The three tested analyzed polymorphisms in the HGF gene were in Hardy-Weinberg equilibrium, in all the subjects. The frequencies of the genotype and allele of rs5745718 and rs1742817 in the HGF gene were significantly different between the PACG patients and the controls. On one hand, the frequencies of the CC genotype and C allele of rs5745718 were significantly decreased in PACG patients compared with controls (Pc = 1.40×10−3; Pc = 3.21×10−4, respectively); however, on the other hand, significantly decreased frequencies of the GG genotype and the G allele of rs17427817 were observed in PACG patients compared with the controls (Pc = 0.006,; Pc = 6.06×10−4, respectively). A comparison of the distributions of the genotypes and alleles of rs3735520 showed no statistically significant differences between the PACG patients and the controls (pc>0.05). The haplotype analysis results showed that the CGC haplotype frequency was significantly decreased in the patients with PACG compared with the controls (pc<0.001). No difference was detected between the patients and the controls with regard to the other haplotypes.

Conclusions

Our study suggests that rs5745718 and rs17427817 are associated with a decreased risk of PACG in the Chinese Han population. The CGC haplotype was demonstrated to possibly play a protective role against PACG in this population.  相似文献   

14.
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/splenomegaly and expansion of CD4/CD8 double-negative T cells. This latter expansion is absent in the ALPS variant named Dianzani Autoimmune/lymphoproliferative Disease (DALD). In addition to the causative mutations, the genetic background influences ALPS and DALD development. We previously suggested a disease-modifying role for the perforin gene involved in familial hemophagocytic lymphohistiocytosis (FHL). The UNC13D gene codes for Munc13-4, which is involved in perforin secretion and FHL development, and thus, another candidate for a disease-modifying role in ALPS and DALD. In this work, we sequenced UNC13D in 21 ALPS and 20 DALD patients and compared these results with sequences obtained from 61 healthy subjects and 38 multiple sclerosis (MS) patients. We detected four rare missense variations in three heterozygous ALPS patients carrying p.Cys112Ser, p.Val781Ile, and a haplotype comprising both p.Ile848Leu and p.Ala995Pro. Transfection of the mutant cDNAs into HMC-1 cells showed that they decreased granule exocytosis, compared to the wild-type construct. An additional rare missense variation, p.Pro271Ser, was detected in a healthy subject, but this variation did not decrease Munc13-4 function. These data suggest that rare loss-of-function variations of UND13D are risk factors for ALPS development.  相似文献   

15.

Background

Adiponectin is reported to be related to the development of chronic obstructive pulmonary disease (COPD). Genetic variants in the gene encoding adiponectin (ADIPOQ) have been reported to be associated with adiponectin level in several genome–wide linkage and association studies. However, relatively little is known about the effects of ADIPOQ gene variants on COPD susceptibility. We determined the frequencies of single-nucleotide polymorphisms (SNPs) in ADIPOQ in a Chinese Han population and their possible association with COPD susceptibility.

Methods

We conducted a case–control study of 279 COPD patients and 367 age- and gender-distribution-matched control subjects. Seven tagging SNPs in ADIPOQ, including rs710445, rs16861205, rs822396, rs7627128, rs1501299, rs3821799 and rs1063537 were genotyped by SNaPshot. Association analysis of genotypes/alleles and haplotypes constructed from these loci with COPD was conducted under different genetic models.

Results

The alleles or genotypes of rs1501299 distributed significantly differently in COPD patients and controls (allele: P = 0.002, OR = 1.43 and 95%CI = 1.14–1.79; genotype: P = 0.008). The allele A at rs1501299 was potentially associated with an increased risk of COPD in all dominant model analysis (P = 0.009; OR: 1.54; 95%CI: 1.11–2.13), recessive model analyses (P = 0.015; OR: 1.75; 95% CI: 1.11–2.75) and additive model analyses (P = 0.003; OR: 2.11; 95% CI: 1.29–3.47). In haplotype analysis, we observed haplotypes AAAAACT and GGACCTC had protective effects, while haplotypes AGAACTC, AGGCCTC, GGAACTC, GGACACT and GGGCCTC were significantly associated with the increased risk of COPD.

Conclusions

We conducted the first investigation of the association between the SNPs in ADIPOQ and COPD risk. Our current findings suggest that ADIPOQ may be a potential risk gene for COPD. Further studies in larger groups are warranted to confirm our results.  相似文献   

16.
中国新疆马鹿亚种头骨形态的地理变化   总被引:7,自引:0,他引:7  
新疆马鹿(Cervus elaphus)有3个亚种(塔里木亚种C.e.yarkandensis、天山亚种C.e.songarieus和阿勒泰亚种C.e.sibirieus)。本文报道新疆马鹿3个亚种头骨形态学特征描述和14项形态学指标测定。被测定的指标主要有颅全长(GLC)、颜面长(FL)、鼻骨全长(GLN)、前头长(MFL)、眼窝长(OFW)、基底全长(CBL)、口盖最大幅(GPB)、前臼齿间距离(Pm—P)、眼间最小幅(ZB)、筋突起高(CH)、关筋突起高(LH)、牙齿间隙裂高(DH)、前下颚骨高(HMP2)、后下颚骨高(HMM,),采用主成分分析并在这3个亚种之间进行了比较。结果表明:1)阿勒泰亚种的头骨长度和高度值比塔里木亚种大,宽度值比塔里木亚种小;2)天山亚种的头骨大小一般处在塔里木亚种和阿勒泰亚种的中间,但三者之间没有显著性差异;3)阿勒泰亚种和天山亚种的头骨形态测量数据比较接近,塔里木亚种的头骨形态比较特殊(塔里木亚种的头骨短而宽,明显区别于其他两亚种的特征)。在新疆导致马鹿3个亚种头骨形态差异的主要因素有栖息地环境和气候因素的差异。阿勒泰亚种和天山亚种栖息在大陆性气候寒冷区的针叶林中,冬天气候比较寒冷;塔里木亚种栖息在大陆性气候温热区的塔里木河流域胡杨林中,气候干旱炎热。因此,阿勒泰和天山亚种在适应寒冷的气候并适应生软食物的食性过程中头骨变成长细,而塔里木亚种长期适应干旱炎热并适应生硬食物的食性使头骨变的短而宽。  相似文献   

17.
新疆四个民族八对遗传性状的基因频率   总被引:14,自引:1,他引:14  
在调查新疆维吾尔、哈萨克、柯尔克孜、塔吉克族8对遗传性状的基础上分别计算出8对遗传性状在上述4个民族中的基因频率, 并进行了4个民族之间基因频率的比较。比较结果表明:塔吉克与其他3个民族之间基因频率的差异显著,而哈族与柯族之间的差异不显著。 Abstract:Acoording to the investigation of eight pairs of genetic traits among four minorities in Xinjiang (Uygur,Kazak,Kirgiz and Tajik),the gene frequencies of these traits were respectively calculated and compared.The results indicated that the difference of gene frequencies between Tajik and other three populations significant,while it is insignificant between kazak and Kirgiz.  相似文献   

18.
为了解云南省急性弛缓性麻痹(Acute flaccid paralysis,AFP)病例中柯萨奇病毒B组5型(Coxsackievirus B5,CV-B5)感染情况及病毒基因特征,采用回顾性研究的方法,收集AFP监测系数据资料,描述CV-B5感染AFP病例的流行病学特征及临床表现;对CV-B5分离株进行完整VP1区逆转录-聚合酶链反应扩增和核苷酸序列测定,测序结果进行同源性分析和系统发生学研究.结果显示,15例CV-B5阳性的AFP病例散在分布于7个云南省内州市、贵州省及缅甸;男女比例为1∶2,5岁以下儿童占73.3%,53.3%(8/15)的病例麻痹时伴发热,以双侧下肢麻痹(66.7%,10/15)为主,临床诊断多为肌炎(33.3%,5/15),1例病例残留麻痹.CV-B5云南株之间以及与原型株之间的核苷酸同源性分别为75.0%~100.0%和77.2%~82.0%.云南本地存在两个基因型的CV-B5共循环,大多数云南株(16株)与中国大陆CV-B5分离株均属于D基因型(D3亚型),另外两株云南株属于国外优势流行的C基因型,与其他云南株之间存在较大的核苷酸差异(20.4%~25.0%).本研究描述了 CV-B5云南地方株的分子流行病学特征,首次发现我国存在C基因型.研究显示分离自不同疾病来源及健康人群的CV-B5在亲缘关系树上无特异性区分.  相似文献   

19.
新疆维吾尔自治区喀什地区作为我国与中亚和欧洲的重要陆路货运口岸,来往货物运输频繁,引入新型冠状病毒(SARS-CoV-2)风险大,对我国新型冠状病毒肺炎(COVID-19)疫情防控造成压力.2020年11月我国新疆维吾尔自治区喀什地区发生输入SARS-CoV-2导致的本土聚集性COVID-19疫情.为明确货物运输载体携带SARS-CoV-2的基因特征以及边境快速物流系统作为SARS-CoV-2传播载体的可能性,本研究对2020年11月6日-2020年11月10日期间在喀什边境口岸货运卡车及运输的集装箱采集的35份SARS-CoV-2核酸阳性样本进行SARS-CoV-2全基因组序列测定和比对分析.结果 显示,35份样本ORFlab基因Ct值的中位数(最小值~最大值)为37.64(28.91~39.81),N基因Ct值的中位数(最小值~最大值)为36.50(26.35~39.30),Reads数匹配率的中位数(最小值~最大值)为51.95%(0.86%~99.31%),病毒载量较低;35份样本中基因组覆盖度达到70%以上的共计18份.基于Pango命名法,18条SARS-CoV-2基因组序列分别属于B.1、B.1.1、B.1.9、B.1.1.220、B.1.153和B.1.465共6个不同的基因型,其中3个基因型(B.1、B.1.1和B.1.153)在喀什边境接壤或邻近的四个国家同期采集的病例样本中也有发现.核苷酸突变位点和系统进化树分析显示,同一个地点采集的样本病毒基因组相似程度高;18条序列中的4条与喀什COVID-19疫情毒株代表序列处在同一个进化分支;其中1条序列与喀什COVID-19疫情毒株基因组存在1个或2个核苷酸突变位点差异,高度同源.本研究证实喀什COVID-19疫情期间边境货运卡车和集装箱存在境外多种基因型病毒的污染,其中存在喀什COVID-19疫情毒株的祖父代病毒,高度提示边境快速物流系统卡车及集装箱作为载体携带SARS-CoV-2病毒入境造成了本土疫情,这些数据为我国边境口岸地区的新冠防控策略制定及后续疫情溯源提供了关键的参考依据.  相似文献   

20.
目的:应用多位点数目可变串联重复序列分析(multiple loci VNTR analysis,MLVA)技术,对新疆喀什地区维吾尔族结核病患者结核分枝杆菌临床分离株进行基因分型,探讨5个数目可变串联重复序列(VNTR)基因型种类及其分布。方法:收集结核分枝杆菌,采用PCR和琼脂糖凝胶电泳技术,结合BioNumerics5.0软件,对其5个VNTR位点进行结果分析。结果:分离出58株结核分枝杆菌,分为4个基因群21个基因型,分别为Ⅰ群占19.1%,含7个基因型;Ⅱ群占3.4%,含2个基因型;Ⅲ群占67.2%,含9个基因型;Ⅳ群占10.3%,含5个基因型。结论:新疆喀什地区维吾尔族结核病患者的结核分枝杆菌存在明显的基因多态性,且存在主要流行菌群。  相似文献   

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