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71.
Robertsonian translocations (ROBs) are rearrangements of the acrocentric chromosomes 13-15 and 21-22. Cytologically, ROBs between homologous chromosomes cannot be distinguished from isochromosomes that originate through duplication of a single homologue. Both types of rearrangements can be involved in aneuploidy. A conceptus with a trisomy or a monosomy can be rescued, and in a proportion of cases, a uniparental disomy (UPD) would result. If there are regions of genome imprinting on a uniparental chromosome pair, phenotypic consequences can result. Chromosomes 14 and 15 are imprinted, and UPD of these are known to result in abnormalities. Thus, prenatal testing should be considered in all pregnancies when one of the parents is a balanced carrier of a ROB because of the risk for aneuploidy, and UPD testing should be considered in fetuses found to carry a balanced ROB or isochromosome that involves chromosomes 14 or 15. Additionally, infants or children with congenital anomalies who carry a ROB should also be considered for UPD testing. 相似文献
72.
An efficient method for the synthesis of 5'-O-monomethoxytrityl-2',3'-dideoxy-2'-fluoro-3'-thioarabinothymidine [(5'MMT)araF-T(3'SH), (5)] and its 3'-phosphoramidite derivative (6) suitable for automated incorporation into oligonucleotides, is demonstrated. A key step in the synthesis involves reaction of 5'-O-MMT-2,3'-O-anhydrothymidine (4) (Eleuteri, A.; Reese, C.B.; Song, Q. J. Chem. Soc. Perkin Trans. 1 1996, 2237 pp.) with sodium thioacetate to give (5'-MMT)araF-T(3'SAc) (5) (Elzagheid, M.I.; Mattila, K.; Oivanen, M.; Jones, B.C.N.M.; Cosstick, L?nnberg, H. Eur. J. Org. Chem. 2000, 1987-1991). This nucleoside was then converted to its corresponding phosphoramidite derivative, 6, as described previously ((a) Sun, S.; Yoshida, A.; Piccirilli, J.A. RNA, 1997, 3, 1352-1363; (b) Matulic-Adamic, J.; Beigelman, L. Helvetica Chemica Acta 1999, 82, 2141-2150: (c) Fettes, K.J.; O'Neil, I.; Roberts, S.M.; Cosstick, R. Nucleosides, Nucleotides and Nucl. Acids 2001, 20, 1351-1354). 相似文献
73.
Lisa Noelle Cooper J. G.M. Thewissen Sunil Bajpai B. N. Tiwari 《Historical Biology》2013,25(3):279-310
Raoellids are small, raccoon-sized Eocene artiodactyls, closely related to archaic cetaceans (archaeocetes) that have poor representation of postcranial elements in the fossil record. Little is known of the aquatic and terrestrial locomotor affinities of raoellids due to the paucity of their fossil record, leaving a critical gap in our understanding of the earliest portion of the artiodactyl marine invasion. To address this gap, a comparative morphological analysis of the postcranial elements was undertaken based on newly recovered elements of the raoellid Indohyus, archaeocetes and extant artiodactyls. Greater than 200 postcranial elements of Indohyus were described, and some limb element cross-sections were visualised via paleohistological thin sections and CT scans. Results show that during terrestrial locomotion, Indohyus probably had a digitigrade posture and mediolaterally stabilised limbs that functioned mostly in flexion and extension within the parasagittal plane. Quantification of midshaft cross-sectional area for some elements of Indohyus showed an osteosclerotic cortex, a skeletal characteristic associated with aquatic behaviours. Indohyus may represent a critical intermediate in the evolution of the cetacean terrestrial-to-aquatic body plan, as it bears gracile postcranial element proportions similar to a terrestrial artiodactyl but also an incipient form of osteosclerosis compared to pakicetid archaeocetes. 相似文献
74.
Jan Rupp Lisa Pfleiderer Christiane Jugert Sonja Moeller Matthias Klinger Klaus Dalhoff Werner Solbach Steffen Stenger Tamas Laskay Ger van Zandbergen 《PloS one》2009,4(6)
Background
Intracellular pathogens have developed elaborate strategies for silent infection of preferred host cells. Chlamydia pneumoniae is a common pathogen in acute infections of the respiratory tract (e.g. pneumonia) and associated with chronic lung sequelae in adults and children. Within the lung, alveolar macrophages and polymorph nuclear neutrophils (PMN) are the first line of defense against bacteria, but also preferred host phagocytes of chlamydiae.Methodology/Principal Findings
We could show that C. pneumoniae easily infect and hide inside neutrophil granulocytes until these cells become apoptotic and are subsequently taken up by macrophages. C. pneumoniae infection of macrophages via apoptotic PMN results in enhanced replicative activity of chlamydiae when compared to direct infection of macrophages, which results in persistence of the pathogen. Inhibition of the apoptotic recognition of C. pneumoniae infected PMN using PS- masking Annexin A5 significantly lowered the transmission of chlamydial infection to macrophages. Transfer of apoptotic C. pneumoniae infected PMN to macrophages resulted in an increased TGF-ß production, whereas direct infection of macrophages with chlamydiae was characterized by an enhanced TNF-α response.Conclusions/Significance
Taken together, our data suggest that C. pneumoniae uses neutrophil granulocytes to be silently taken up by long-lived macrophages, which allows for efficient propagation and immune protection within the human host. 相似文献75.
Manuel Garber Michael C Zody Harindra M Arachchi Aaron Berlin Sante Gnerre Lisa M Green Niall Lennon Chad Nusbaum 《Genome biology》2009,10(6):R60-6
The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has
helped explain a large number of these unresolved regions as 'structural' in nature. Another class of gaps is likely to be
refractory to clone-based approaches, and cannot be approached in ways previously described. We present an approach for closing
these gaps using 454 sequencing. As a proof of principle, we closed all three remaining non-structural gaps in chromosome
15. 相似文献
76.
77.
Farias SE Basselin M Chang L Heidenreich KA Rapoport SI Murphy RC 《Journal of lipid research》2008,49(9):1990-2000
Inflammatory lipid mediators derived from arachidonic acid (AA) and docosahexaenoic acid (DHA) modify the pathophysiology of brain ischemia. The goal of this work was to investigate the formation of eicosanoids and docosanoids generated from AA and DHA, respectively, during no-flow cerebral ischemia. Rats were subjected to head-focused microwave irradiation 5 min following decapitation (complete ischemia) or prior to decapitation (controls). Brain lipids were extracted and analyzed by reverse-phase liquid chromatography-tandem mass spectrometry. After complete ischemia, brain AA, DHA, and docosapentaenoic acid concentrations increased 18-, 5- and 4-fold compared with controls, respectively. Prostaglandin E(2) (PGE(2)) and PGD(2) could not be detected in control microwaved rat brain, suggesting little endogenous PGE(2)/D(2) production in the brain in the absence of experimental manipulation. Concentrations of thromboxane B(2), E(2)/D(2)-isoprostanes, 5-hydroxyeicosatetraenoic acid (5-HETE), 5-oxo-eicosatetraenoic acid, and 12-HETE were significantly elevated in ischemic brains. In addition, DHA products such as mono-, di- and trihydroxy-DHA were detected in control and ischemic brains. Monohydroxy-DHA, identified as 17-hydroxy-DHA and thought to be the immediate precursor of neuroprotectin D(1), was 6.5-fold higher in ischemic than in control brain. The present study demonstrated increased formation of eicosanoids, E(2)/D(2)-IsoPs, and docosanoids following cerebral ischemia. A balance of these lipid mediators may mediate immediate events of ischemic injury and recovery. 相似文献
78.
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities 总被引:12,自引:0,他引:12
E. Schröck T. Veldman Hesed Padilla-Nash Y. Ning Jack Spurbeck Syed Jalal Lisa G. Shaffer Peter Papenhausen Chahira Kozma Mary C. Phelan Eigil Kjeldsen Stephen A. Schonberg Patricia O’Brien Les Biesecker Stan du Manoir Thomas Ried 《Human genetics》1997,101(3):255-262
Karyotype analysis by chromosome banding is the standard method for identifying numerical and structural chromosomal aberrations
in pre- and postnatal cytogenetics laboratories. However, the chromosomal origins of markers, subtle translocations, or complex
chromosomal rearrangements are often difficult to identify with certainty. We have developed a novel karyotyping technique,
termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-specific painting probes
labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of
interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors.
Here, we report the comprehensive karyotype analysis of 16 samples from different cytogenetic laboratories by merging conventional
cytogenetic methodology and spectral karyotyping. This approach could become a powerful tool for the cytogeneticists, because
it results in a considerable improvement of karyotype analysis by identifying chromosomal aberrations not previously detected
by G-banding alone. Advantages, limitations, and future directions of spectral karyotyping are discussed.
Received: 4 August 1997 / Accepted: 8 September 1997 相似文献
79.
80.