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1.
L M Moynihan S E Bundey D Heath E L Jones D P McHale R F Mueller A F Markham N J Lench 《American journal of human genetics》1998,62(5):1123-1128
We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness. The form of histiocytosis exhibited by this family does not fit readily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating autosomal recessive inheritance. Using autozygosity mapping, we have identified a homozygous region of approximately 1 cM at chromosome 11q25, in affected individuals. A maximum two-point LOD score of 3.42 (recombination fraction straight theta = .00) was obtained with marker D11S968. This is the first genetic locus to be described that is involved in the molecular pathogenesis of histiocytosis. 相似文献
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The recently determined crystal structures of two aspartic proteinase zymogens, prophytepsin from barley and proplasmepsin II from the malarial parasite Plasmodium falciparum, have provided new insights into zymogen inactivation. Prophytepsin shows a variation of the mechanism of inhibition used by the well-known gastric aspartic proteinase zymogens, whereas proplasmepsin II uses a completely new mode of inactivation. 相似文献
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The presence of free D-aspartic acid in rodents and man 总被引:4,自引:0,他引:4
D S Dunlop A Neidle D McHale D M Dunlop A Lajtha 《Biochemical and biophysical research communications》1986,141(1):27-32
Free D-aspartic acid is present in appreciable quantities in the brain and other tissues of rodents and in human blood. In the newborn rat, the highest concentration of D-aspartic acid was found in cerebral hemispheres, where, at 164 nmol/g (8.4% of the total aspartic acid), the level of D-aspartic acid exceeds that of many essential L-amino acids. The highest ratio of D- to total aspartic acid (38%) occurred in neonatal blood cells. In the adult rat, the highest concentration was present in the pituitary gland (127 nmol/g, 3.8%). Within the central nervous system marked regional differences are present and characteristic changes with development take place. In general, the levels of D-aspartic acid fall rapidly with increasing age. In cerebral hemispheres adult values (13 nmol/g, 0.43%) are approached within one week. D-aspartic acid concentrations may also be higher in young humans since fetal blood, taken from placental cord, contains 2.6 nmol/g (4.9%) of D-aspartic acid, a value five times that of adult human blood. These distributional patterns and developmental changes may be the result of differences in the ability of various tissues to dispose of an extraneous metabolite, or, reflect alterations in a specific functional requirement for D-aspartic acid. 相似文献
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华西银腊梅挥发油化学成分的研究 总被引:1,自引:0,他引:1
用水蒸气蒸馏法提取华西银腊梅挥发油,并用气相色谱-质谱(GC-MS)联用技术对其挥发油的化学成分进行分析,结果共鉴定了其中的39种成分,所鉴定成分含量约占总检出量的87.83%。其化学成分主要为(Z,Z)-9,12-十八碳二烯酸甲酯(9.00%),壬醛(5.83%),二十一烷(5.69%),二十烷(5.08%),辛炔酸(4.50%),2,6,10,15-四甲基十七烷(3.93%),(Z)-6-十八烯酸甲酯(3.65%),3,8-二甲基十一烷(3.52%),1-十六碳炔(3.31%),肉豆蔻酸(2.86%),月桂醛(2.81%),壬酸(2.23%),5,6,7,7α-四氢-4,4,7α三甲基-2(4H)-苯并呋喃酮(2.18%)等。 相似文献
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C. T. LEE S. L. LEE Q. Z. FARIDAH S. S. SIRAJ K. K. S. NG B. NORLIA M. N. MAT‐ISA 《Molecular ecology resources》2006,6(4):1198-1201
This paper reports the isolation and characterization of 24 polymorphic microsatellite markers in an important tropical timber species, Koompassia malaccensis (Leguminosae). The primers were designed from a genomic library enriched for dinucleotide (CT) repeats and screened on 24 samples from a natural population. The number of alleles detected per locus ranged from two to 13 while the observed heterozygosity ranged from 0.042 to 1.000. Significant departure from Hardy–Weinberg equilibrium (P < 0.05) was detected in two loci. These microsatellite markers were tested across 13 timber species of the same family. The amplification success appeared to be associated with taxonomy classification at the genus but not subfamily levels. 相似文献