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101.
M E MacDonald A Novelletto C Lin D Tagle G Barnes G Bates S Taylor B Allitto M Altherr R Myers 《Nature genetics》1992,1(2):99-103
Analysis of 78 Huntington's disease (HD) chromosomes with multi-allele markers revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The most frequent haplotype, accounting for about one third of disease chromosomes, suggests that the disease gene is between D4S182 and D4S180. However, the paucity of an expected class of chromosomes that can be related to this major haplotype by assuming single crossovers may reflect the operation of other mechanisms in creating haplotype diversity. Some of these mechanisms sustain alternative scenarios that do not require a multiple mutational origin for HD and/or its positioning between D4S182 and D4S180. 相似文献
102.
T lymphocytes recognize antigen in the form of peptides that associate with specific alleles of class I or class II major histocompatibility (MHC) molecules. By contrast with the clear MHC allele-specific binding of peptides to purified class II molecules purified solubilized class I molecules either bind relatively poorly or show degenerate specificity. Using photo-affinity labelling, we demonstrate here the specific interaction of peptides with cell-associated MHC class I molecules and show that this involves metabolically active processes. 相似文献
103.
The rough endoplasmic reticulum membranes of mammalian cells contain specific ribosome-binding sites. A purification to apparent homogeneity of a negatively charged protein (ERp180) of relative molecular mass 180,000 (180 K) was reported which was proposed to function as a rough endoplasmic reticulum ribosome receptor. We report here that ribosome-binding site activity quantitatively solubilized from rough endoplasmic reticulum membranes does not cofractionate with ERp180. By contrast, ribosome-binding site activity fractionates as a much smaller, positively charged protein. 相似文献
104.
Genotoxic effects of dithane M-45 were studied on the bone marrow cells of male albino mice (Lacca strain) in vivo. Different doses (30 mg, 40 mg and 300 mg/kg b.wt) of dithane M-45 were injected intraperitoneally and their effects were investigated after time intervals of 1, 2, 5 and 10 days. The chromosomal aberrations observed in the bone marrow cells of male mice after treatment with dithane M-45 were fragments, rings, dicentric chromosomes, terminal chromatid deletions, chromatid gaps and breaks. In addition to these chromosomal aberrations, physiological effects such as uneven stretching of chromatin material, end-to-end chromosomal associations, exchange configurations, clumping, stickiness and centromeric associations were also observed. 相似文献
105.
秋水仙素诱导青虾次级卵母细胞二倍体初探 总被引:3,自引:0,他引:3
以青虾卵巢为材料,采用秋水仙素诱导多倍体次级卵母细胞.经滴片试验,确立此实验最佳滴片高度为1.5cm,通过设置5个秋水仙素浓度(0.08~0.40mg/mL)及3个作用时间(6~24h),观察发生染色体加倍的细胞相对数目.实验结果表明:在使用秋水仙素的浓度为0.08~0.40mg/mL,处理6~24h时都可以获得多倍体卵细胞.在秋水仙素浓度是0.32mg/mL,处理6h可得到最高二倍体突变率(32.58%).还测试了0.32mg/mL COM作用6h时ATPase活性与生理盐水对照组的变化,结果显示COM会在一定程度上影响细胞的新陈代谢.但是50%左右的成活率表明,这种诱导突变的方法仍具有一定的应用价值. 相似文献
106.
MacArthur DG Seto JT Raftery JM Quinlan KG Huttley GA Hook JW Lemckert FA Kee AJ Edwards MR Berman Y Hardeman EC Gunning PW Easteal S Yang N North KN 《Nature genetics》2007,39(10):1261-1265
More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associated with elite athlete status and human muscle performance, suggesting that alpha-actinin-3 deficiency influences the function of fast muscle fibers. Here we show that loss of alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance. In addition, we demonstrate that the genomic region surrounding the 577X null allele shows low levels of genetic variation and recombination in individuals of European and East Asian descent, consistent with strong, recent positive selection. We propose that the 577X allele has been positively selected in some human populations owing to its effect on skeletal muscle metabolism. 相似文献
107.
雪灵芝水溶性多糖提取工艺优化及其数学模型的建立 总被引:2,自引:0,他引:2
目的 优化雪灵芝水溶性多糖的提取工艺,并建立数学模型.方法 采用水提醇沉法提取雪灵芝水溶性多糖;运用苯酚-硫酸法测定多糖含量;通过单因素实验研究浸提时间、加水比、浸提温度及乙醇浓度对多糖提取率的影响;采用响应面分析法优化提取条件,运用sas软件分析实验数据,建立回归模型.结果 得到雪灵芝水溶性多糖提取的优化工艺参数的最佳取值范围为:浸提温度(94.5~97.5℃);浸提时间(2~2.5h);加水比(43~51v/w).结论 为雪灵芝水溶性多糖提取工艺的优化提供了一定的技术依据,也为其后续研究奠定了基础. 相似文献
108.
109.
R. Cavelti 《Cellular and molecular life sciences : CMLS》1948,4(12):487-489
Summary (1) Doubly refracting lipoid droplets can be demonstrated in normal and pathological sera by means of alcohol ether extraction. This is not possible with ether extraction alone.(2) These lipoid droplets can be demonstrated only, or almost only, when they are precipitated out of alcohol or ether alcohol 相似文献
110.
Larrucea S Butta N Rodriguez RB Alonso-Martin S Arias-Salgado EG Ayuso MS Parrilla R 《Cellular and molecular life sciences : CMLS》2007,64(22):2965-2974
Podocalyxin (PODXL) is a mucin protein of the CD34 family expressed in kidney glomerular podocytes, vascular endothelium,
progenitor bone marrow and tumor cells. It is assumed that PODXL plays an anti-adherent role in kidney podocytes. CHO cells
stably expressing human PODXL (CHO-PODXL) or human tumor cells (Tera-1) inherently expressing PODXL showed increased adherence
to platelets. The adherence of cells was inhibited (70%) by blockers of platelet P-selectin, prevented by the soluble ectodomain
of human PODXL (PODXL-Δ) or by the arginine-glycine-aspartate (RGDS) peptide and partially impeded by inhibition of integrin
αVβ3/αVβ5, suggesting a coordinated action of P-selectin and integrins. Colocalization of platelet P-selectin and PODXL expressed
on CHO cells was demonstrated by confocal immunofluorescence. No adherence to platelets was observed when PODXL was expressed
in glycomutant CHO cells deficient in sialic acid.
Received 14 August 2007; received after revision 12 September 2007; accepted 13 September 2007 相似文献