Linkage relationships of HLA and a familial chromosome 6 inversion (pter→p23::q23→p23::q23→qter): lack of dose effect in duplication-deficient offspring

1978 ◽  
Vol 22 (1-6) ◽  
pp. 418-420 ◽  
Author(s):  
R.E. Magenis ◽  
J. Chamberlin ◽  
K. Overton ◽  
E. Lovrien
1978 ◽  
Vol 22 (1-6) ◽  
pp. 301-303 ◽  
Author(s):  
T. Gedde-Dahl, Jr. ◽  
L. Korsnes ◽  
E. Thorsby ◽  
B. Olaisen ◽  
A. Bratlie ◽  
...  

Genomics ◽  
1993 ◽  
Vol 17 (2) ◽  
pp. 324-329 ◽  
Author(s):  
P.A. Clamp ◽  
R. Feltes ◽  
D. Shalhevet ◽  
J.E. Beever ◽  
E. Atac ◽  
...  

Genetics ◽  
1980 ◽  
Vol 96 (3) ◽  
pp. 697-710 ◽  
Author(s):  
M M Goodman ◽  
C W Stuber ◽  
K Newton ◽  
H H Weissinger

ABSTRACT Linkage relationships of 19 enzyme loci have been examined. The chromosomal locations of eight of these loci are formally reported for the first time in this paper. These localizations should assist in the construction of additional useful chromosome marker stocks, especially since several of these enzyme loci lie in regions that were previously poorly mapped. Six loci are on the long arm of chromosome 1. The arrangement is (centromere)—Mdh4-mmm-Pgm1-Adh1-Phi-Gdh1, with about 46% recombination between Mdh4 and Gdh1.—Linkage studies with a2 and pr have resulted in the localization of four enzyme genes to chromosome 5 with arrangement Pgm2-Mdh5-Got3-a2-(centromere)-pr-Got2. Pgm2 lies approximately 35 map units distal to a2 in a previously unmapped region of the short arm of 5, beyond ameiotic.—Approximately 23% recombination was observed between Mdh4 and Pgm1 on chromosome 1, while 17% recombination occurred between Mdh5 and Pgm2 on chromosome 5. Similarly, linkages between Idh1 and Mdh1, about 22 map units apart on chromosome 8, and between Mdh2 and Idh2, less than 5 map units apart on chromosome 6, were observed. Thus, segments of chromosomes 1 and 5 and segments of 6 and 8 may represent duplications on nonhomologous chromosomes.


Author(s):  
L. Reimer

Most information about a specimen is obtained by elastic scattering of electrons, but one cannot avoid inelastic scattering and therefore radiation damage by ionisation as a primary process of damage. This damage is a dose effect, being proportional to the product of lectron current density j and the irradiation time t in Coul.cm−2 as long as there is a negligible heating of the specimen.Therefore one has to determine the dose needed to produce secondary damage processes, which can be measured quantitatively by a chemical or physical effect in the thin specimen. The survival of micro-organisms or the decrease of photoconductivity and cathodoluminescence are such effects needing very small doses (see table).


2001 ◽  
Vol 120 (5) ◽  
pp. A121-A122
Author(s):  
T EZAKI ◽  
M WATANABE ◽  
S FUNAKOSHI ◽  
M NAGANUMA ◽  
T AZUMA ◽  
...  

Praxis ◽  
2002 ◽  
Vol 91 (27) ◽  
pp. 1151-1160
Author(s):  
Fajfr ◽  
Müller

Les maladies thyroïdiennes auto-immunes ou immunes (autoimmune thyroid disease, AITD) sont relativement fréquentes. Le terme de AITD comprend les thyréodites euthyroidiennes ou hypothyroïdiennes de Hashimoto avec ou sans goitre, les hyperthyroïdies classiques de Basedow et leurs variantes nettement plus rares euthyroïdiennes ou hypothyroïdiennes. Aucune des nombreuses classifications des AITD n'a pu s'imposer sur le plan international. La pathogénèse de toutes les formes d'AITD comprend une perturbation de la tolérance immune chez les individus prédisposés génétiquement (séquence HLA-DQAI*0501 sur le bras court du chromosome 6) qui provoque un processus auto-immun contre la glande thyroïdienne. Ces processus sont soit destructeurs ou inhibiteurs, soit stimulateurs, ce qui permet d'expliquer les formes très différentes de AITD. Dans de cas rares, ces processus peuvent se contrebalancer («balance hypotheseis»). Les anticorps anti-récepteurs TPO et TSH (TRAK) ont une place particulière dans le diagnostic des AITD. Les dosages de routine utilisent pour la mesure des TRAK des récepteurs qui ne peuvent pas différencier entre les anticorps stimulants ou bloquants contre les récepteurs TSH. C'est, entre autre pour ces raisons, que les résultats d'anticorps positifs ne sont utilisables qu'en connaissance de la clinique et / ou des paramètres de la fonction thyroïdienne. Ce travail présente quatre patients avec des formes plus complexes d'AITD et résume les connaissances actuelles.


Crisis ◽  
2005 ◽  
Vol 26 (1) ◽  
pp. 4-11 ◽  
Author(s):  
E. Kinyanda ◽  
H. Hjelmeland ◽  
S. Musisi

Abstract. Negative life events associated with deliberate self-harm (DSH) were investigated in an African context in Uganda. Patients admitted at three general hospitals in Kampala, Uganda were interviewed using a Luganda version (predominant language in the study area) of the European Parasuicide Study Interview Schedule I. The results of the life events and histories module are reported in this paper. The categories of negative life events in childhood that were significantly associated with DSH included those related to parents, significant others, personal events, and the total negative life events load in childhood. For the later-life time period, the negative life events load in the partner category and the total negative life events in this time period were associated with DSH. In the last-year time period, the negative life events load related to personal events and the total number of negative life events in this time period were associated with DSH. A statistically significant difference between the cases and controls for the total number of negative life events reported over the entire lifetime of the respondents was also observed, which suggests a dose effect of negative life events on DSH. Gender differences were also observed among the cases. In conclusion, life events appear to be an important factor in DSH in this cultural environment. The implication of these results for treatment and the future development of suicide interventions in this country are discussed.


1984 ◽  
Vol 23 (02) ◽  
pp. 87-91 ◽  
Author(s):  
K. Flemming

SummaryIn the beginning of medical radiology, only the benefit of ionizing radiation was obvious, and radiation was handled and applied generously. After late effects had become known, the radiation exposure was reduced to doses following which no such effects were found. Thus, it was assumed that one could obtain an optimal medical benefit without inducing any hazard. Later, due to experimental findings, hypotheses arose (linear dose-effect response, no time factor) which led to the opinion that even low and lowest radiation doses were relevant for the induction of late effects. A radiation fear grew, which was unintentionally strengthened by radiation protection decrees: even for low doses a radiation risk could be calculated. Therefore, it was believed that there could still exist a radiation hazard, and the radiation benefit remained in question. If, however, all presently known facts are considered, one must conclude that large radiation doses are hazardous and low doses are inefficient, whereas lowest doses have a biopositive effect. Ionizing radiation, therefore, may cause both, hazard as well as benefit. Which of the two effects prevails is determined by the level of dose.


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