共查询到20条相似文献，搜索用时 250 毫秒
1.
Haines JL Hauser MA Schmidt S Scott WK Olson LM Gallins P Spencer KL Kwan SY Noureddine M Gilbert JR Schnetz-Boutaud N Agarwal A Postel EA Pericak-Vance MA 《Science (New York, N.Y.)》2005,308(5720):419-421
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults. 相似文献
2.
Klein RJ Zeiss C Chew EY Tsai JY Sackler RS Haynes C Henning AK SanGiovanni JP Mane SM Mayne ST Bracken MB Ferris FL Ott J Barnstable C Hoh J 《Science (New York, N.Y.)》2005,308(5720):385-389
Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies. 相似文献
3.
Dewan A Liu M Hartman S Zhang SS Liu DT Zhao C Tam PO Chan WM Lam DS Snyder M Barnstable C Pang CP Hoh J 《Science (New York, N.Y.)》2006,314(5801):989-992
Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet (neovascular) or dry (nonneovascular). Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD. Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. A whole-genome association mapping strategy was applied to a Chinese population, yielding a P value of <10(-11). Individuals with the risk-associated genotype were estimated to have a likelihood of developing wet AMD 10 times that of individuals with the wild-type genotype. 相似文献
4.
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration 总被引：1，自引：0，他引：1
Yang Z Camp NJ Sun H Tong Z Gibbs D Cameron DJ Chen H Zhao Y Pearson E Li X Chien J Dewan A Harmon J Bernstein PS Shridhar V Zabriskie NA Hoh J Howes K Zhang K 《Science (New York, N.Y.)》2006,314(5801):992-993
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world and has a strong genetic predisposition. A locus at human chromosome 10q26 affects the risk of AMD, but the precise gene(s) have not been identified. We genotyped 581 AMD cases and 309 normal controls in a Caucasian cohort in Utah. We demonstrate that a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. The HTRA1 gene encodes a secreted serine protease. Preliminary analysis of lymphocytes and retinal pigment epithelium from four AMD patients revealed that the risk allele was associated with elevated expression levels of HTRA1 mRNA and protein. We also found that drusen in the eyes of AMD patients were strongly immunolabeled with HTRA1 antibody. Together, these findings support a key role for HTRA1 in AMD susceptibility and identify a potential new pathway for AMD pathogenesis. 相似文献
5.
酸性矿山废水对稻田土壤中磷形态及磷有效性的影响 总被引：1，自引：0，他引：1
选择我国西南典型喀斯特地区的稻田土壤为研究对象,通过模拟不同污染浓度酸性矿山废水(AMD)的污灌试验,分析稻田土壤磷酸铁类化合物(Fe-P)、磷酸钙类化合物(Ca-P)、磷酸铝类化合物(Al-P)、闭蓄态磷(O-P)等不同矿物形态磷及土壤总磷和有效磷的变化,并初步探讨AMD中主要污染因子pH值、Fe3+对稻田土壤磷释放的作用,评价AMD持续污染对稻田土壤不同磷形态及磷有效性的影响.结果表明:在AMD添加比例小于50％时,随着AMD污染浓度的持续增加,稻田土壤中Fe-P呈显著升高的趋势(P=0.0001),在AMD添加比例为50％～75％时土壤中Fe-P趋于稳定,并在无机磷总量中占绝对优势;而Ca-P、O-P、Al-P在AMD 0.1％～1％极低污染水平下含量显著升高,而在AMD大于1％后又均呈显著降低的趋势(PCa-P=0.0003、PO-P=0.0001、Pl-P=0.0001);土壤有效磷和Ca-P、O-P、A1-P有基本一致的变化趋势,说明较高AMD污染程度可造成稻田土壤有效磷的显著淋失.土壤有机磷含量在0％～10％ AMD浓度范围内先小幅上升,在AMD浓度10％～75％范围内趋于平稳,当AMD浓度大于75％时,土壤有机磷含量与AMD浓度呈显著负相关(P=0.030).稻田土壤中总磷的含量随着AMD污染程度的增加呈先小幅上升后持续降低的趋势,但总体变化不明显.对应AMD相应比例下的pH值和Fe3+浓度,单独的pH值降低对土壤中磷(Ca-P)溶出效果不明显,而结合铁的添加可显著增加土壤中磷(Ca-P)的溶解.综上,酸性矿山废水污染可显著改变稻田土壤中磷的存在形态及有效性,其中AMD中高含量的Fe3+污染造成的影响最大. 相似文献
6.
为了鉴定小麦品种龙麦19(L-19,2*,7+9,2+12)和一对L-19的Gli-A1位点醇溶蛋白近等基因系L-19-626(2*,7+9,5+10)与L-19-613(2*,7+9,5+10)中与Gli-A1位点紧密连锁的Glu-A3位点低分子麦谷蛋白亚基(LMW-GS),利用一套Glu-A3位点特异低分子麦谷蛋白亚基STS标记对L-19、L-19-613、L-19-626及L-19/L-19-626的F2个体进行PCR扩增。结果表明:在具有醇溶蛋白Gli-A1m的个体中(L-19-626类型),Glu-A3e反应均为阳性,在不具有醇溶蛋白Gli-A1m的个体中(L-19和L-19-613类型),Glu-A3c反应均为阳性。说明编码L-19-626醇溶蛋白的Gli-A1 m基因与编码LMW-GS的Glu-A3e基因紧密连锁,编码L-19和L-19-613的Gli-A1位点醇溶蛋白基因(未命名)与编码LMW-GS的Glu-A3c基因紧密连锁。因此,L-19-626与L-19-613近等基因系品质间的差别很可能是由其LMW-GS Glu-A3e与Glu-A3c基因间的差异引起的。 相似文献
7.
WuXianmeng HuangHualn NingZuliang DingDingjian 《农业科学与技术》2001,2(4):16-21
Augmented randomized complete block test was conducted to evaluate the heterosis of 80 hybrid combinations from TGMS line 402S and its original parent Xiangyou 91S, and the combining ability of 40 testcrossing lines. The results of identification test showed that among 47 combinations yielding over the control Xiangyou 15, 17 ones with 402S and 3 ones with Xiangyou 91S overyidded more than 20%, reaching the significant level of 1% ; and arrrmg 51 combinations yielding over their corresponding higher yield parents, 18 ones with 402S and 9 ones with Xiangyou 91S overyielded at 5 % or 1% significant level. The test for the GCA effect of all parents indicated that 402S possessed a stronger combining ability than Xiangyou 91S on yield, siliquae of main inflorescence, total siliquae per plant, seed yield of single plant and 1000- seed weight. 10 testcrossing lines with high GCA were picked out for next testcrosses. Amnng 8 agronomic traits, total siliquae per plant and seed yield of single plant were regarded as the key selecting indexes accccding to the correlation analysis between yield and the agronomic traits on heterosis and on the GCA effect of all parents. 相似文献
8.
甜玉米种子营养品质主要性状全基因组关联分析 总被引：1，自引：0，他引：1
利用玉米56K SNP芯片评估包含100份甜玉米自交系的甜玉米育种资源群体的群体结构,并对种子营养品质性状进行关联定位。结果表明:100份甜玉米自交系可划分为两个亚群,其中,亚群1包括92份种质,亚群2包括8份种质。利用获得均匀覆盖甜玉米基因组的37 297个高质量SNP发现,PIC值集中在0.19、基因多样性变幅集中在0.36~0.38。甜玉米种子中淀粉含量、蛋白质含量、脂肪含量波动较大,其中,淀粉含量变幅在53.91%~73.70%,蛋白质含量变幅在8.96%~18.01%,脂肪含量变幅在5.53%~18.50%。利用GLM-Q模型关联定位到控制甜玉米种子淀粉含量、蛋白质含量、脂肪含量的SNP位点分别是14、15和20,能够解释表型变异的3.45%~51.69%。其中,在-log10P>3.50水平下,位于3号染色体上Affx-115329496处的qSTA-3-1对淀粉含量贡献率最大,约为20.90%;位于1号染色体Affx-91181539处的qPRO-1-1位点和9号染色体上Affx-115333989处的qPRO-9-2与种子蛋白质含量显著关联;而5号染色体Affx-91137282处的qFAT-5-1与种子脂肪含量显著关联。 相似文献
9.
猪钙蛋白酶抑制蛋白基因PCR-RFLP多态性与肉质性状及背膘厚间的关系分析 总被引：2，自引：0，他引：2
钙蛋白酶抑制蛋白(CAST)是钙蛋白酶系统的内源性抑制剂,并且已经被确定能影响宰后肉的嫩度。本研究采用PCR-RFLP技术,分析了CAST基因在125头PIC杂交猪中的多态性分布及其与肉质性状和背膘厚间的相关。结果发现,CAST基因在本研究所检测的位点均具有多态性。进一步分析表明,CAST^A2A2基因型个体与其相应的另外两个基因型个体相比肌内脂肪含量有显著差异,CAST^B1B2基因型个体对于肌内脂肪含量的影响也有相同的趋势;CAST^C1C2基因型个体与其相应的另外两个基因型个体相比背膘厚有显著差异,CAST^C1C2。基因型个体和CAST^D1D2基因型个体对于背膘厚的影响也有相同的趋势。因此可以把CAST基因作为影响猪肉盾性状和屠体性状的候选基因。 相似文献
10.
黄牛Gli3基因第10外显子多态性及其与生长性状相关性 总被引：1，自引：0，他引：1
利用PCR-SSCP和DNA测序技术研究708头黄牛Gli3基因第10外显子的多态性,发现此外显子存在SSCP多态。对不同SSCP带型的对应片段进行测序分析,共发现2个新的SNP多态位点(NW_001494928:g.205649TC,205754AC),这2个SNP完全连锁。南阳牛不同基因型与生长发育性状的相关性分析显示,CC基因型个体的24月龄平均日增体质量指标显著大于TT基因型个体(P0.05),其余各项指标基因型间差异不显著(P0.05)。因此,该位点有可能作为南阳牛生长性状辅助选择的标记之一。秦川牛和郏县红牛群体中没有发现与该基因座多态显著相关的性状。 相似文献
11.
[目的]考察Enterobacter sp. LY402在好氧条件下对氯丹的降解能力。[方法]将多氯联苯高效降解菌株Enterobacter sp. LY402运用到氯丹的好氧降解中,系统考察了LY402在好氧条件下降解过程的影响因素。[结果]在不加入其他碳源的情况下,对1.0 mg/L氯丹混合物的4 d降解率达到94%,对于浓度高达10.0 mg/L氯丹混合物总降解率也能达到61%以上。降解体系的温度和pH值对氯丹的好氧降解率有一定影响,pH值5.0~8.0,温度30~40℃对氯丹的好氧降解有利。[结论]Enterobacter sp. LY402具有很强的好氧降解氯丹的能力。 相似文献
12.
Thyroxine-binding globulin: characterization of the binding site with a fluorescent dye as a probe 总被引：1，自引：0，他引：1
The fluorescent dye 1,8-anilinonaphthalenesulfonate competed with thyroxine for binding to thyroxine-binding globulin. Fluorescence analysis indicated that the dye bound to the globulin in a molar ratio of 1:1 and with an association constant (at 23 degrees C) of 4.19 x10(6)M(-1), and that thyroxine bound to the globulin in a molar ratio of 1:1 and with an association constant (at 23 degrees C) of 2.35x10(10)M(-1). Displacement of globulin-bound dye by thyroxine was shown by fluorescence quenching, and displacement of globulin-bound thyroxine by dye was demonstrated by ultrafiltration. 相似文献
13.
Effects of 1-MCP on Post-Harvest Physiology of Tomato 总被引：1，自引：0，他引：1
Tomato (Lycopersicon esculentum cv. 402) was used to investigate the effects of 1-MCP (1-methylcyclopropene) treatment on ethylene production, respiration, vitamin C, chlorophyll, titratable acid,change of fruit color and rot. The results indicated that 1-MCP strongly inhibited ethylene production and respiration of tomato at very low concentration, delayed the incidence of climacteric peak of ethylene production and respiration. 1-MCP also delayed the decrease of vitamin C, chlorophyll and titratable acid during shelf life and storage significantly. Shelf and storage life of fruit treated with 1-MCP were extended at least 10 days at ambient (20 - 22℃ ) and 15 days at storage (9 - 11℃ ) temperature, respectively. Efficacy of 1-MCP on shelf and storage life was improved by increasing its concentration. After treatment of 1-MCP, rots were markedly lower than that of untreated fruit. 1-MCP treatment delayed the fruit color change. 相似文献
14.
15.
FSHR基因第10外显子多态性及其与小梅山猪产仔数的相关性 总被引：4，自引：3，他引：1
【目的】研究猪FSHR基因第10外显子的多态性及其与小梅山母猪产仔数的相关性。【方法】采用 PCR-SSCP和直接测序方法检测基因多态性,利用最小二乘法分析其对母猪产仔数的关系,同时对多态位点的方差组分进行分析,并预测选择反应。【结果】在小梅山猪、枫泾猪和大白猪这3个群体中,引物P1和P3上分别检测到1个多态位点,其中P1位点可导致氨基酸的改变;引物P6仅在大白猪中检测到1个多态位点;对小梅山猪而言,P1位点的A等位基因和P3位点的D等位基因为优势基因;在P1位点上,两胎以上小梅山母猪中,AA型个体的总产仔数（total number born,TNB）和产活仔数（number born alive,NBA）比BB型分别高出1.95和1.66头（P＜0.01）;在P3位点上,在两胎以上及所有胎次的母猪中,DD型个体的TNB和NBA均极显著高于CC型（P＜0.01）;小梅山母猪的TNB和NBA在P1和P3位点上的遗传主要受到加性效应的影响。【结论】FSHR基因第10外显子P1和P3位点的A和D等位基因对小梅山猪产仔数有显著影响。 相似文献
16.
为了探讨血管活性肠肽Ⅰ型受体基因(VIPR-1)的多态性与肉用鹌鹑胴体性状的关系,采用PCR-RFLP方法对法国巨型肉用鹌鹑和莎维麦脱肉用鹌鹑2个群体的VIPR-1基因与肉用鹌鹑胴体性状进行关联分析。结果表明,VIPR-1基因外显子4-5的BsrDⅠ位点在法国巨型肉用鹌鹑和莎维麦脱肉用鹌鹑中检测到3种基因型,即GG、GT、TT基因型,基因型频率分别为：0.408、0.490、0.102;0.222、0.444、0.334。VIPR-1基因外显子6-7的HpyCH4Ⅳ位点在法国巨型肉用鹌鹑和莎维麦脱肉用鹌鹑中检测到AA、AG、GG这3种基因型,基因型频率分别为：0.020、0.020、0.960;0.056、0.111、0.833。关联分析表明,VIPR-1基因外显子4-5的BsrDⅠ位点与法国巨型肉用鹌鹑的肝重有显著关联性(P<0.05);VIPR-1基因外显子6-7的HpyCH4Ⅳ位点与法国巨型肉用鹌鹑的体重、屠宰重、肝重有显著关联性(P<0.05),与莎维麦脱肉用鹌鹑的体重、屠宰重、全净膛重、心重、胸肌重、腿肌重、肝率、胸肌率有显著关联性(P<0.05)。VIPR... 相似文献
17.
Fifty-seven members of a family that spanned three generations were studied for antigen E and ragweed skin sensitivity and HL-A antigens. There was significant association between the haplotype HL-A 2-12 and antigen E skin hypersensitivity (F = .22 to .26) in this family. The map order is first locus of HL-A, second locus of HL-A, and IrE. These determinants are considered to be part of the linkage group HL-1. 相似文献
18.
【目的】控制桃果实粘/离核性状的多聚半乳糖醛酸酶（polygalacturonase,PG）基因存在串联重复和大片段的缺失。本研究对粘核桃所处的F-M基因座序列特征进行分析,为开发相关分子标记提供依据。【方法】本研究利用构建的粘核桃单株‘87-7-1’基因组的细菌人工染色体（bacterial artificial chromosome,BAC）文库,通过PCR筛选出含F-M基因座的阳性克隆,利用单分子纳米孔技术进行全长测序,并对BAC克隆中的插入片段进行基因注释、序列比对和生物信息学分析。【结果】利用已有桃品种的基因组重测序数据设计PCR引物,以BAC文库为模板,扩增F-M基因座上/下游稳定共有的序列,获得了扩增产物上/下游条带均为阳性的目标单克隆46-B-10。全长测序结果表明,BAC克隆的插入片段全长为111 612 bp,GC含量为37.03%。利用基因同源共线性方法对Prunus_persica_v2.0桃参考基因组和BAC克隆之间的同源信息进行比对分析,确定了同源区域。而与已知的桃参考基因组（测序品种为‘Lovell’,离核）序列进行比对,发现只有5个基因（Prupe.4G261700、Prupe.4G261800、Prupe.4G261900、Prupe.4G262000、Prupe.4G262500）序列能比对到该单克隆全长的区域,而‘87-7-1’在相应位置缺失了4个基因共34 kb,其中包括控制桃粘/离核的EndoPGF（Prupe.4G262200）。【结论】与桃参考基因组测序品种‘Lovell’相比,粘核桃单株‘87-7-1’的F-M基因座缺失了EndoPGF,只有EndoPGM,本研究明确了粘核桃F-M基因座的结构变异情况,为粘/离核性状分子标记的开发奠定了基础。 相似文献
19.
【背景】苹果（Malus×domestica Borkh）是我国主要栽培果树树种之一,但部分苹果产区由于夏、秋季的大量集中降雨和排水不良等造成果园涝害频繁发生,导致苹果树叶片黄化、脱落,果实品质和产量下降。【目的】鉴定苹果耐涝相关基因,为苹果耐涝分子标记辅助育种和优质高产栽培提供依据。【方法】以耐涝苹果砧木G41和不耐涝苹果砧木新疆野苹果（M. sieverii (Ledeb) Roem.）及其构建的包含495个F1杂交后代为材料,从F1杂交群体中挑选出耐涝和不耐涝株系各50株,构建两个极端性状DNA混池,采用简化基因组测序（SLAF-seq）技术,开发SLAF标签和SNP标记,结合苹果基因组信息和遗传关联性分析,对苹果耐涝基因进行定位及候选基因预测,并对候选基因在耐涝差异的株系中进行淹水胁迫下的表达分析。【结果】以‘金冠’苹果为参考基因组,共开发119 072个SLAF标签,其中多态性SLAF有11 133个。通过序列分析和检测SNP位点,共获得6 237 071个SNP,其中高质量SNP有170 617个。通过ED和SNP-index方法关联分析,获得一个与耐涝性状紧密关联的候选区域,位于苹果第10号染色体1.94—3.25 Mb,关联区域大小为1.31 Mb,关联区域内包含120个基因。对该区域内基因进行功能注释,发现一个与呼吸代谢相关的基因—乙醇脱氢酶基因ADH1（MD10G1014500）,在淹水处理后1、2、4和6 d,该基因在耐涝植株中的表达量显著高于不耐涝植株。【结论】将苹果耐涝基因定位于第10号染色体1.94—3.25 Mb处,筛选到可能与苹果耐涝相关的候选基因MD10G1014500,可用于苹果耐涝基因的克隆和功能解析。 相似文献
20.
【目的】功能性保绿通常被认为是包括玉米在内的主要作物品种的理想性状。挖掘新的控制玉米保绿相关位点和候选基因,为玉米保绿遗传研究提供理论基础。【方法】以150份由许178和K12组配的重组自交系（recombinant inbred lines,RIL）群体为材料,通过Windows QTL Cartographer V2.5的复合区间作图法（composite interval mapping,CIM）对3个保绿相关性状（保绿度（visual stay green,VSG）、吐丝期绿叶数（green leaf number at silking stage,GLNS）和成熟期绿叶数（green leaf number at mature stage,GLNM））进行QTL定位。同时,以139份自然材料组成的关联群体为材料,基于混合线性模型（mixed linear model,MLM）,结合50 790个高质量SNP标记,对这3个性状进行全基因组关联分析（genome-wide association study,GWAS）。【结果】基于CIM,利用单环境下的表型值和最佳线性无偏估计值（best linear unbiased prediction,BLUP）对GLNM、GLNS和VSG进行定位,共检测到37个QTL,分布在除第10染色体以外的其他染色体上,LOD范围为2.58—11.36,表型贡献率为4.34%—22.40%。GLNM、GLNS和VSG性状分别检测到14、12和11个位点。其中,4个遗传稳定的QTL（qGLNS2-1、qVSG1-1、qVSG1-2和qVSG7-1）,在3个及以上不同单环境中同时被检测到。利用MLM对保绿相关性状进行全基因组关联分析,共检测到44个超过阈值线的显著SNP,根据SNP标记在B73参考基因组的物理位置,发现共有15个位点落在连锁分析定位到的QTL区间内。【结论】通过QTL定位和全基因组关联分析共同检测到4个遗传稳定的共定位遗传区段（对应的B73参考基因组V4版物理位置区间为第1染色体6.2—8.2 Mb、第2染色体209.1—221.4 Mb、第6染色体96.8—102.1 Mb、第7染色体4.9—11.4 Mb）,并挖掘到4个与光合作用和抗逆相关的候选基因（Zm00001d006119、Zm00001d018975、Zm00001d006535和Zm00001d036763）。 相似文献