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排序方式: 共有196条查询结果,搜索用时 31 毫秒
71.
S Chitnis C Derom R Vlietinck R Derom J Monteiro P K Gregersen 《American journal of human genetics》1999,65(2):570-571
Autosomal dominant brachydactyly type B (BDB) is characterized by nail aplasia with rudimentary or absent distal and middle phalanges. We describe two unrelated families with BDB. One family is English; the other family is Canadian but of English ancestry. We assigned the BDB locus in the Canadian family to an 18-cM interval on 9q, using linkage analysis (LOD score 3.5 at recombination fraction [theta] 0, for marker D9S938). Markers across this interval also cosegregated with the BDB phenotype in the English family (LOD score 2.1 at straight theta=0, for marker D9S277). Within this defined interval is a smaller (7.5-cM) region that contains 10 contiguous markers whose disease-associated haplotype is shared by the two families. This latter result suggests a common founder among families of English descent that are affected with BDB. 相似文献
72.
73.
This report describes a convenient method for the rapid and efficient
release of N-linked oligosaccharides from low microgram amounts of
glycoproteins. A 96-well MultiScreen assay system containing a
polyvinylidene difluoride (PVDF) membrane is employed to immobilize
glycoproteins for subsequent enzymatic deglycosylation. Recombinant
tissue-type plasminogen activator (rt-PA) is used to demonstrate the
deglycosylation of 0.1-50 micrograms of a glycoprotein. This method enabled
the recovery of a sufficient amount of N-linked oligosaccharides released
enzymatically with peptide N-glycosidase F (PNGaseF) from as little as 0.5
microgram rt-PA for subsequent analysis by matrix-assisted laser
desorption/ionization time-of-flight (MALDI- TOF) mass spectrometry. The
immobilization of rt-PA to the PVDF membrane did not sterically inhibit the
PNGaseF-mediated release of oligosaccharides from rt-PA as determined by
tryptic mapping experiments. Comparison of the oligosaccharides released
from 50 micrograms of rt-PA by either the 96-well plate method or by a
standard solution digestion procedure showed no significant differences in
the profiles obtained by high-pH anion-exchange chromatography with pulsed
amperometric detection (HPAEC-PAD). Both neutral and sialylated
oligosaccharide standards spiked into wells were recovered equally as
determined by HPAEC-PAD. One advantage of this approach is that reduction
and alkylation can be performed on submicrogram amounts of glycoproteins
with easy removal of reagents prior to PNGaseF digestion. In addition, this
method allows 60 glycoprotein samples to be deglycosylated in 1 day with
MALDI-TOF or HPAEC-PAD analysis being performed on the following day.
相似文献
74.
Strasser-Wozak EM Hartmann BL Geley S Sgonc R Böck G AJ Santos Hattmannstorfer R Wolf H Pavelka M Kofler R 《Cell death and differentiation》1998,5(8):687-693
The tumor suppressor p53 has been implicated in gamma irradiation-induced apoptosis. To investigate possible consequences of wild-type p53 loss in leukemia, we studied the effect of a single dose of gamma irradiation upon p53-deficient human T-ALL (acute lymphoblastic leukemia) CCRF - CEM cells. Exposure to 3 - 96 Gy caused p53-independent cell death in a dose and time-dependent fashion. By electron microscopic and other criteria, this cell death was classified as apoptosis. At low to intermediate levels of irradiation, apoptosis was preceded by accumulation of cells in the G2/M phase of the cell division cycle. Expression of Bcl-2 and Bax were not detectably altered after irradiation. Expression of the temperature sensitive mouse p53 V135 mutant induced apoptosis on its own but only slightly increased the sensitivity of CCRF - CEM cells to gamma irradiation. Thus, in these, and perhaps other leukemia cells, a p53- and Bcl-2/Bax-independent mechanism is operative that efficiently senses irradiation effects and translates this signal into arrest in the G2/M phase of the cell cycle and subsequent apoptosis. 相似文献
75.
The East Flanders Prospective Twin Survey (EFPTS), started in 1964, is unique among the 17 major European twin registers because it is population based, the twins (and higher order births) are ascertained at birth, basic perinatal data are collected, chorion type is established and, when appropriate, genetic markers including DNA fingerprints, are determined. The total number of sets is 5089 twin, 158 triplet and 14 of higher order. Zygosity has been diagnosed on the basis of sex, placental structure and genetic markers in more than 95% of pairs. The EFPTS is the only large register that includes placental data and allows differentiation of three subtypes of monozygotic twins based on the time of the initial zygotic division: the dichorionic-diamnionic pairs (early), the monochorionic-diamnionic pairs (intermediate), and the monochorionic-monoamnionic pairs (late). Methodology and basic results in twins are considered in this article; detailed studies will be reported later. The sex proportion in dizygotic (DZ) twins is the same as in singletons, whereas monozygotic (MZ) twins number more girls than boys. The difference in perinatal mortality between DZ and MZ twins is limited to the monochorionic MZ subgroup. Birth weight is highest in DZ twins and diminishes stepwise in MZ dichorionic and MZ monochorionic twins. Duration of pregnancy follows the same trend but is limited to a few days. Iatrogenic pregnancies are increasing to the point of representing almost 50% of the twin births in 1997. 相似文献
76.
P. Vercauteren E. Meulepas R. Vlietinck J. -J. Cassiman H. Van Den Berghe 《Human genetics》1984,67(1):56-61
Summary Log-linear models are fitted to sister chromatid exchange (SCE) scores in order to test the significance of the differences in SCE scores observed between individuals or between experimental treatments. The analysis is performed at the level of chromosome groups. In each single test all measurements from all chromosome groups, both from the control and from the experimental sets, are utilized. By proceeding in this way full use is made of all the available information on the SCE scores at the level of chromosome groups and the shortcomings of the classical Student-t and chi-square tests are avoided.This work was supported by a grant Geconcerteerde Acties from the Belgian Government. 相似文献
77.
78.
Specificity of Penicillin Acylase of Fusarium and of Penicillium chrysogenum 总被引:4,自引:0,他引:4 下载免费PDF全文
Extracts containing penicillin acylase were obtained by shaking the mycelium of Fusarium avenaceum and of Penicillium chrysogenum in 0.2 M sodium acetate or sodium chloride solution. The optimum pH for conversion of penicillin V into 6-aminopenicillanic acid (6-APA) by the enzyme of Fusarium was about 7.5, and the reaction velocity was increased by a rise in temperature from 27 to 37 C. Penicillin G and penicillins with an aliphatic side chain were cleaved much less readily than was penicillin V. With the enzyme preparation obtained from a nonpenicillin-producing strain of P. chrysogenum, the reaction rate was higher at pH 8.5 than at pH 7.5 and pH 6.5. The acylase of P. chrysogenum hydrolyzes penicillin V more readily than penicillin G. In a series of aliphatic penicillins, the amount of 6-APA formed through the action of this enzyme increased with the number of carbon atoms of the side chain. Penicillins with a glutaryl or an adipyl group as side chain were unaffected by the enzyme of Fusarium and of Penicillium. No reaction was observed upon incubation of penicillin N (with a D-aminoadipyl side chain) or isopenicillin N (with an L-aminoadipyl side chain) with Fusarium and Penicillium extract. When the carboxy group of the side chain of these penicillins was esterified, formation of 6-APA was observed upon incubation with Penicillium extract, whereas no 6-APA or only very small amounts were obtained by acylase of Fusarium. 相似文献
79.
Loos R.; Thomis M.; Maes H. H.; Beunen G.; Claessens A. L.; Derom C.; Legius E.; Derom R.; Vlietinck R. 《Journal of applied physiology》1997,82(6):1802-1810
Loos, R., M. Thomis, H. H. Maes, G. Beunen, A. L. Claessens,C. Derom, E. Legius, R. Derom, and R. Vlietinck. Gender-specific regional changes in genetic structure of muscularity in early adolescence. J. Appl. Physiol. 82(6):1802-1810, 1997.Genetic and environmental influences on musclecircumference measurements of the extremities were estimated in 105 pairs of twins between 10 and 14 yr of age. Four circumferences,extended upper arm (EAC), forearm (FC), thigh (TC), and calf (CC), weremeasured. Univariate model fitting revealed that the largest part(87-95%) of the variance for all circumferences at most ages wasexplained by additive genetic factors. Sex differences were observedfor some age categories. Multivariate analyses showed a differentpattern evolving according to age and gender. In boys from 10 to 12 yrof age, one general genetic factor influenced all four circumferences.With increasing age, an arm-leg model emerged, one genetic factorinfluencing the arm and another genetic factor the leg circumferences.In young girls one genetic factor loaded on the proximal (EAC,TC) andanother on the distal (FC,CC) circumferences. With subjects at age 14 yr, an arm-leg model was observed. High genetic correlations indicatedthat genetic factors related to EAC, FC, TC, and CC did not actindependently. The age- and gender-specific changes in the geneticstructure suggest pubertal influences. This study shows that musclecircumferences are highly heritable characteristics and are therefore apromising starting point at which to locate their genes. Gene mappingcould validate the gender-specific change of the genetic structure withage and region. 相似文献
80.
Phylogenetic relationships within the Alcidae (Charadriiformes: Aves) inferred from total molecular evidence 总被引:4,自引:1,他引:3
The Alcidae is a unique assemblage of Northern Hemisphere seabirds that
forage by "flying" underwater. Despite obvious affinities among the
species, their evolutionary relationships are unclear. We analyzed
nucleotide sequences of 1,045 base pairs of the mitochondrial cytochrome b
gene and allelic profiles for 37 allozyme loci in all 22 extant species.
Trees were constructed on independent and combined data sets using maximum
parsimony and distance methods that correct for superimposed changes.
Alternative methods of analysis produced only minor differences in
relationships that were supported strongly by bootstrapping or standard
error tests. Combining sequence and allozyme data into a single analysis
provided the greatest number of relationships receiving strong support.
Addition of published morphological and ecological data did not improve
support for any additional relationship. All analyses grouped species into
six distinct lineages: (1) the dovekie (Alle alle) and auks, (2)
guillemots, (3) brachyramphine murrelets, (4) synthliboramphine murrelets,
(5) true auklets, and (6) the rhinoceros auklet (Cerorhinca monocerata) and
puffins. The two murres (genus Uria) were sister taxa, and the black
guillemot (Cepphus grylle) was basal to the other guillemots. The Asian
subspecies of the marbled murrelet (Brachyramphus marmoratus perdix) was
the most divergent brachyramphine murrelet, and two distinct lineages
occurred within the synthliboramphine murrelets. Cassin's auklet
(Ptychoramphus aleuticus) and the rhinoceros auklet were basal to the other
auklets and puffins, respectively, and the Atlantic (Fratercula arctica)
and horned (Fratercula corniculata) puffins were sister taxa. Several
relationships among tribes, among the dovekie and auks, and among the
auklets could not be resolved but resembled "star" phylogenies indicative
of adaptive radiations at different depths within the trees.
相似文献