共查询到20条相似文献，搜索用时 31 毫秒
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Liquori CL Ricker K Moseley ML Jacobsen JF Kress W Naylor SL Day JW Ranum LP 《Science (New York, N.Y.)》2001,293(5531):864-867
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2. 相似文献
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Lohi H Young EJ Fitzmaurice SN Rusbridge C Chan EM Vervoort M Turnbull J Zhao XC Ianzano L Paterson AD Sutter NB Ostrander EA André C Shelton GD Ackerley CA Scherer SW Minassian BA 《Science (New York, N.Y.)》2005,307(5706):81
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy. 相似文献
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[目的]了解广西眼镜蛇Dmrt基因DM结构域特性,为探讨眼镜蛇性别决定和分化发育的分子机制及证实Dmrt基因家族在爬行动物进化中的保守性提供理论依据.[方法]以广西眼镜蛇为材料,采用简并PCR扩增克隆眼镜蛇Dmrt基因DM结构域,并分析其与人、猕猴、牛、小鼠、大绿蛙、中华蟾蜍、扬子鳄等相应Dmrt基因DM结构域的同源性及系统进化关系.[结果]克隆获得广西眼镜蛇Dmrt基因家族的两个成员,分别命名为Nn1 Dmrt和Nn2 Dmrt.经系统进化分析,发现两个Dmrt基因DM保守区核酸序列与人、猕猴、牛、小鼠、大绿蛙、中华蟾蜍、扬子鳄相应Dmrt基因保守区核酸序列的相似性均在74%以上,其推导氨基酸序列的相似性均在80%以上.[结论]Dmr基因DM结构域编码序列在不同物种中同源性较高,Dmrt基因家族在动物系统进化上具有高度的保守性. 相似文献
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萝卜干物重和可溶性总糖含量的遗传分析 总被引：7，自引：0，他引：7
以干物重、可溶性总糖含量差异显著的萝卜品种Nau17-XWH和Nau20-LHZ为材料,采用植物数量性状主基因+多基因混合遗传模型多世代联合分析方法,分析了萝卜干物重和可溶性总糖含量性状的遗传规律.结果表明:干物重的最适遗传模型为两对完全显性主基因+加性-显性多基因混合遗传模型,干物重的主基因遗传率为35.00%,多基因遗传率为55.00%,因此,应在控制环境因素条件下进行轮回选择以使萝卜干物重性状的基因累积;可溶性总糖含量的最适遗传模型为两对加性-显性主基因+加性-显性多基因模型,可溶性总糖含量的主基因遗传率为98.33%,因此,萝卜可溶性总糖含量性状的遗传受环境因素影响较小,可以在早期世代进行选择. 相似文献
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为研究不同铜源和不同剂量铜对绒山羊生长发育、绒产量和绒品质的影响,选用体重相近的岢岚绒山羊6月龄青年母羊40只,随机分为5组,分别饲喂添加铜水平为0 mg.kg-1(对照组)、25 mg.kg-1和100 mg.kg-1DM硫酸铜2、5 mg.kg-1和100 mg.kg-1DM蛋氨酸铜的日粮,进行为期70 d的试验,其中预试期10 d。结果表明:日粮添加铜显著提高了岢岚绒山羊青年母羊的体重(P0.05),但其绒自然长度和绒细度不受铜添加水平的影响(P0.05)。添加25 mg.kg-1DM硫酸铜或蛋氨酸铜组显著提高了周岁母羊产绒量和绒的伸直长度。因此,在绒山羊青年母羊的日粮中,硫酸铜或蛋氨酸铜添加量以25 mg.kg-1DM为宜。 相似文献
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穴播地膜小麦土壤水分动态变化研究 总被引：9，自引：0，他引：9
对地膜冬小麦不同生育时期和不同深度土壤含水量测定结果表明 ,在冬小麦越冬期 ,不同深度土壤含水量地膜小麦明显大于露地小麦 ;在返青期和拔节期 ,40～ 6 0 cm以上土层土壤含水量地膜小麦略大于露地小麦 ;孕穗期 ,土壤含水量地膜小麦小于露地小麦。随着生育期延后 ,不同深度土壤含水量地膜小麦多数表现为降低的趋势 ,而露地小麦在 0～ 2 0 cm和 2 0～ 40 cm土层以上土壤含水量变化有波动 ,40～ 6 0 cm以下土层均表现为近似抛物线形。这种规律性变化与覆地膜后引起土壤水分动态运动及外界降水有关。土层内平均土壤含水量 ,地膜小麦较露地小麦增加值随生育期延后呈由高到低规律性变化。 相似文献
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氮肥与密度对青贮玉米产量和品质的影响 总被引：12，自引：1，他引：12
以渝单8号为材料,采用田间试验比较研究了100 kg/hm2、200 kg/hm2、300 kg/hm2和400 kg/hm2 4个氮肥(纯氮)水平及1 hm260 000 株、75 000 株、 90 000 株、105 000 株和120 000 株 5个种植密度对青贮玉米的产量和品质的影响.结果表明,蜡熟期单位面积地上部干物质产量随施氮量和密度的增加而增加;但果穗率在施氮量适中时即200 kg/hm2和300 kg/hm2时大于处理100 kg/hm2和400 kg/hm2.地上部干物质中粗蛋白含量随施氮量的增加而增加,但随密度增加有下降的趋势;单位面积粗蛋白产量在氮肥水平300 kg/hm2和1 hm290 000 株时最大.地上部干物质中中性洗涤纤维含量随施氮量的增加略有降低,但各施氮处理间差异不显著(P>0.05);酸性洗涤纤维含量随密度的增加呈上升趋势.综合氮肥与密度处理对青贮玉米地上部干物质产量及饲用品质的影响,施纯氮300 kg/hm2、密度1 hm290 000 株为南京地区渝单8号青贮栽培利用的适宜组合. 相似文献
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A new probe for the diagnosis of myotonic muscular dystrophy 总被引：11，自引：0，他引：11
R J Bartlett M A Pericak-Vance L Yamaoka J Gilbert M Herbstreith W Y Hung J E Lee T Mohandas G Bruns C Laberge 《Science (New York, N.Y.)》1987,235(4796):1648-1650
Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4. 相似文献
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Circumsporozoite protein heterogeneity in the human malaria parasite Plasmodium vivax 总被引：8，自引：0，他引：8
R Rosenberg R A Wirtz D E Lanar J Sattabongkot T Hall A P Waters C Prasittisuk 《Science (New York, N.Y.)》1989,245(4921):973-976
Phenotypic heterogeneity in the repetitive portion of a human malaria circumsporozoite (CS) protein, a major target of candidate vaccines, has been found. Over 14% of clinical cases of uncomplicated Plasmodium vivax malaria at two sites in western Thailand produced sporozoites immunologically distinct from previously characterized examples of the species. Monoclonal antibodies to the CS protein of other P. vivax isolates and to other species of human and simian malarias did not bind to these nonreactive sporozoites, nor did antibodies from monkeys immunized with a candidate vaccine made from the repeat portion of a New World CS protein. The section of the CS protein gene between the conserved regions I and II of a nonreactive isolate contained a nonapeptide repeat, Ala-Asn-Gly-Ala-Gly-Asn-Gln-Pro-Gly, identical at only three amino acid positions with published nonapeptide sequences. This heterogeneity implies that a P. vivax vaccine based on the CS protein repeat of one isolate will not be universally protective. 相似文献
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Single strands, triple strands, and kinks in H-DNA 总被引：49，自引：0，他引：49
A naturally occurring (dT-dC)18:(dA-dG)18 repeat in the H conformation of DNA was shown to contain single-stranded nucleotides in the center of the TC18 repeat and on one half of the AG18 repeat. These results support the model that H-DNA is a structure containing both triple-stranded and single-stranded regions. The stability of this structure was affected by both pH and the degree of negative supercoiling: at pH 7.6 to 7.7, a high level of supercoiling was needed to keep about half of the molecules in the H conformation; at pH 6 and pH 5, normal levels of supercoiling supported H-DNA; and at pH 4, no supercoiling was required. At mildly alkaline pH, the TC/AG18 repeat assumed a novel conformation called J-DNA that differed from both the B and H forms. A three-dimensional model for the structure of H-DNA is proposed that accounts both for the single-strandedness of the nucleotides and for the influence of supercoiling on H-DNA formation. This model predicts and evidence is presented that H-DNA introduces a sharp kink in the DNA. Moreover, the angle of this kink appears not to be fixed, so that H-DNA is also a hinged-DNA. 相似文献
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采用批次培养法研究了体外条件下高油日粮中添加维生素E对山羊瘤胃培养液中共轭亚油酸累积规律的影响.选择6只带有永久胃瘘管的山羊制备出瘤胃培养液进行体外培养24h,维生素E添加量分别为0、0.5、1.0和2.0 ng·瓶-1,每组设三个重复,测量其发酵液中共轭亚油酸含量变化.结果显示,在培养8h和16h时,VE各处理组的顺... 相似文献