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31.
H. R. Juul‐Madsen T. S. Dalgaard B. Guldbrandtsen J. Salomonsen 《International journal of immunogenetics》2000,27(2):63-71
Chickens have two major regions encoding major histocompatibility complex (MHC) class Iα genes and MHC class IIß genes, the serological and functional B‐system and the Rfp‐Y‐system. Recently, they have been shown to assort in a genetically independent way although still located on the same microchromosome. Moreover, the monomorphic MHC class IIα gene maps at a third locus located 5 c m from the nearest class IIß genes, located in the B‐system ( Kaufman et al., 1995 ). A pedigree family was studied in three generations in order to assign MHC class IIß restriction fragments observed in Southern blot analyses to either the B‐system, the Rfp‐Y‐system or the B‐Lα locus. In this study, we demonstrate by classical genetic testing of chickens within this fully pedigreed family the existence of an MHC class II‐like polymorphic restriction fragment that segregates independently of the B‐system, the Rfp‐Y‐system and of the B‐Lα locus. 相似文献
32.
During orthostatic hypotension we evaluated whether presyncopal symptoms relate to a reduced brain oxygenation. Nine subjects performed 50° head-up tilt for 1 h and eight subjects were followed during 2 h of supine rest and during 1 h of 10° head-down tilt. Cerebral perfusion was assessed by transcranial Doppler determined middle cerebral artery blood velocity (MCA vmean), while brain blood oxygenation was assessed by near-infrared spectrophotometry determined concentration changes for oxygenated (ΔHbO2) and deoxygenated haemoglobin and brain cell oxygenation by the oxidized cytochrome c concentration (ΔCytO2). During head-up tilt, six volunteers developed presyncopal symptoms and mean arterial pressure (88 (78–103) to 68 (57–79) mmHg; median and range), heart rate (96 (72–111) to 65 (50–107) beats min?1), MCA vmean (59 (51–82) to 41 (29–56) cm s?1), ΔHbO2 (by ?5.3 (?3.0 to ?14.8) μmol l?1) and ΔCytO2 were reduced (by ?0.2 (?0.1 to ?0.4) μmol l?1; P < 0.05). During tilt down the cardiovascular variables recovered immediately and ΔHbO2 increased to 2.2 (?0.9–12.0) mmol L?1 above the resting value and also ΔCytO2 recovered. In the nonsyncopal head-up tilted subjects as in the controls, blood pressure, heart rate, MCA vmean and brain oxygenation indices remained stable. The results suggest that during orthostasis, presyncopal symptoms relate not only to cerebral hypoperfusion but also to reduced brain oxygenation. 相似文献
33.
Ole Rintek Madsen Ulrik Birk Lauridsen Andreas Hartkopp Ole Helmer Sørensen 《European journal of applied physiology》1997,75(3):239-245
Dual energy x-ray absorptiometry (DEXA) offers the possibility of assessing regional soft tissue composition, i.e. lean mass (LM) and fat mass : LM may be considered a measure of muscle mass. We examined age-related differences in LM, percentage fat (%fat) and muscle strength in 100 healthy non-athletic women aged 18–87 years. Relationships between muscle strength and leg LM in 20 elite female weight lifters and in 18 inactive women with previous hip fractures were also studied. The LM and %fat of the whole body, trunk, arms and legs were derived from a whole body DEXA scan. Isokinetic knee extensor strength (KES) and flexor strength (KFS) at 30°?·?s–1 were assessed using an isokinetic dynamometer. The women aged 71–87 years had 35% lower KES and KFS than the women aged 18–40 years (P 0.0001). Differences in LM were less pronounced. The LM of the legs, for instance, was 15% lower in the old than in the young women (P 0.0001). In a multiple regression analysis with age, body mass, height and leg LM or KES as independent variables and KES or leg LM as the dependent variable, age was the most important predictor of KES (r partial?=??0.74, P 0.0001). The same applied to KFS. Body mass, not age, was the most important predictor of leg LM (r partial?=?0.65, P 0.0001) and of LM at all other measurement sites. The LM measured at different regions decreased equally with increasing age. The KES:leg LM ratio was negatively correlated with age (r?=??0.70, P 0.0001). The weight lifters had significantly higher KES:leg LM ratios than age-matched controls (+12%, P 0.0001) and vice versa for the women with previous hip fractures (–36%, P 0.0001). In conclusion, from our study it would seem that in healthy nonathletic women, age is a more important determinant of muscle strength than is LM as measured by DEXA. Muscle strengthening exercises and inactivity seem to have a considerably stronger influence on muscle strength than on LM. 相似文献
34.
Determinants of activation by complement of group II phospholipase A2 acting against Escherichia coli. 总被引:1,自引:0,他引:1
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Prompt killing of many strains of Escherichia coli during phagocytosis in vitro by isolated polymorphonuclear leukocytes (PMN) requires the presence of nonlethal doses of nonimmune serum (B. A. Mannion, J. Weiss, and P. Elsbach, J. Clin. Invest. 86:631-641, 1990). Because this requirement is bypassed in a phospholipase A (PLA)-rich mutant (pldA ) of E. coli, we have examined the effect of serum on bacteria] phospholipid (PL) degradation during phagocytosis of wild-type (pldA+) and PLA-deficient (pldA) E. coli. In parallel with increased killing, nonlethal doses of serum increased the degradation of prelabeled bacterial PL during phagocytosis by two- to fivefold, to nearly the same levels (ca. 50 to 60%) as those produced during phagocytosis of E. coli pldA in the absence of serum. The effects on the E. coli pldA mutant imply that there is a serum-mediated enhancement of granule-associated group II PMN PLA2 activity. At the same doses, serum promoted action against E. coli in the presence of purified rabbit and human group II PLA2 but did not activate bacterial PLA. Related PLA2s that lack specific structural determinants needed for optimal activity against E. coli treated with the bactericidal/permeability-increasing protein (BPI) of PMN are also less active than wild-type group II PLA2 against serum-treated E. coli. Treatment of E. coli with C7- or C9-depleted serum did not enhance bacterial killing or PL degradation during phagocytosis or the action of purified PLA2. In summary, these findings suggest that (i) nonlethal assemblies of the membrane attack complex promote intracellular killing and destruction of E. coli ingested by PMN, in part by promoting the action of granule-associated PLA2 against ingested bacteria, and (ii) structural determinants first implicated in PLA2 action against BPI-treated E. coli are also important in PLA2 action in concert with other host defense systems, such as complement. 相似文献
35.
36.
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB 总被引:8,自引:1,他引:8
Levy G; Levi-Acobas F; Blanchard S; Gerber S; Larget-Piet D; Chenal V; Liu XZ; Newton V; Steel KP; Brown SD; Munnich A; Kaplan J; Petit C; Weil D 《Human molecular genetics》1997,6(1):111-116
Usher syndrome is recognized as the most frequent cause of hereditary
deaf-blindness. Usher syndrome type I (USH1), the most severe form of the
disease, is characterized by profound congenital sensorineural deafness,
constant vestibular dysfunction, and retinitis pigmentosa of prepubertal
onset. This form is genetically heterogeneous and five loci (USH1A-E) have
been mapped thusfar. However, only the gene responsible for USH1 B (which
accounts for approximately 75% of USH1 cases) has been characterized. It
encodes a long-tailed unconventional myosin, myosin VIIA, with a predicted
2215 amino acid sequence. Primers covering the complete myosin VIIA coding
sequence as well as the 3' non coding sequence were designed, allowing
direct sequence analysis of each of the 48 coding exons and flanking splice
sites in seven patients affected by USH1. Four novel mutations were thereby
identified. The possibility should now be considered of a sequence-based
prenatal diagnosis in some of the families affected by this very severe
form of Usher syndrome.
相似文献
37.
38.
SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease
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Kirsten Marie Madsen Lis Hasholt Johannes Berger Sven Asger S?rensen 《Journal of clinical pathology》1996,49(5):M310-M312
To investigate the distribution of a single base pair mutation within a family with one known case of Fabry disease, DNA from paraffin wax embedded necropsy material was studied using single-strand conformation polymorphism (SSCP) analysis. The proband, who presented with an atypical form of Fabry disease, had a G to A transition in exon 6 of the α-galactosidase A gene. This patient had mainly cardiac symptoms and late onset disease. Further cases of coronary disorders occurred in this family, including the proband's brother who died at 42 years of age of a cardiac disorder. Formalin fixed, paraffin wax embedded material from the brother and two more distant relatives was available for analysis. SSCP analysis showed that the proband's brother also carried the G to A transition. Thus, the atypical form of Fabry disease and unrelated cardiac diseases with similar clinical symptoms occurred within a single family. The variant form is rare but may account for a few of the numerous cases of cardiac disease in men and should be considered when clusters of cases of cardiac disease occur within a single family. 相似文献
39.
40.
We have studied the reproducibility of a bronchial leukotriene (LT) provocation test in asthmatics, and the effect of prior treatment with an oral leukotriene D4/E4 antagonist (SR 2640) on LTD4-induced bronchoconstriction in nine asthmatics in a double-blind placebo-controlled randomized cross-over trial. The reproducibility of the bronchial leukotriene provocation test was high. For a specific patient, the replication variance is 0.2303, and the standard deviation is thus 0.4799, corresponding to 48%, i.e. one halving of the dose or half doubling of the dose. SR 2640 antagonised LTD4 induced bronchoconstriction causing a mean shift of 48% to the right of the dose-response curve as compared with placebo (95% confidence interval being 11-137%). This study demonstrates that bronchial LTD4 provocation test is a safe and reproducible method in asthmatics, and that the method can be used to detect LT-antagonism; furthermore that SR 2640 is a weak LTD4-antagonist in asthmatics. 相似文献