Determination of the Genetic Variant Reliability Using SHAP Approach

2020 ◽  
Keyword(s):  
Genetic Variant

Instability of the anteroposterior axis in spontaneous double abdomen (sda), a genetic variant of Chironomus samoensis (Diptera, Chironomidae)

Development ◽  
1987 ◽  
Vol 101 (3) ◽  
pp. 591-603 ◽  
Author(s):  
K.L. Kuhn ◽  
J. Percy ◽  
M. Laurel ◽  
K. Kalthoff
Keyword(s):  
Genetic Variant ◽  
Laboratory Strain ◽  
Posterior Pole ◽  
Mirror Image ◽  
Anterior Pole ◽  
Spontaneous Formation ◽  
Pole Cells ◽  
Anterior Segments ◽  
Egg Polarity

We have isolated a laboratory strain of Chironomus samoensis in which determination of the anteroposterior egg polarity is disturbed. Most conspicuous is the spontaneous formation of ‘double abdomen’ embryos where head and thorax are replaced by a mirror image of the abdomen. Such double abdomens are found in about half of the egg clusters in this strain, which we call the spontaneous double abdomen (sda) strain as opposed to the normal (N) strain. Also observed in the sda strain, although less frequently, are ‘double cephalon’ embryos showing a mirror-image duplication of cephalic segments in the absence of thorax and abdomen. Moreover, embryos from the sda strain tend to form cells at the anterior pole resembling the pole cells at the posterior pole. Reciprocal crossings between the sda and the N strain indicate that the sda trait is inherited maternally. Spontaneous double abdomen formation is correlated with signs of disturbed egg architecture, including extruded yolk and detached cells. Double cephalons can also be generated by centrifuging embryos from the N strain, whereas centrifugation of sda embryos produces mostly double abdomens. Double abdomen formation can be induced experimentally by anterior u.v. irradiation of embryos from either strain. The sda trait and u.v. irradiation act in a synergistic fashion. The data suggest that the sda trait may be caused by one or more genomic mutations interfering indirectly with the activity of anterior determinants, i.e. cytoplasmic RNP particles necessary for the development of anterior segments. The sda defects may be ascribed to alterations in cytoskeletal components involved in anchoring anterior determinants and segregating them into anterior blastoderm cells.

scholarly journals Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D6*3 Genotyping Assays

2017 ◽  
Vol 43 (6) ◽  
pp. 2297-2309 ◽  
Author(s):  
Giada Scantamburlo ◽  
Konstantina Tziolia ◽  
Michaela Zopf ◽  
Emanuele Bernardinelli ◽  
Selma M. Soyal ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Gold Standard ◽  
Genetic Variant ◽  
Accurate Determination ◽  
Drop Out ◽  
Loss Of Function ◽  
Hydrolysis Probe ◽  
Discrepant Result ◽  
Number Variation

Background/Aim: Accurate genotyping of CYP2D6 is challenging due to its inherent genetic variation, copy number variation (duplications and deletions) and hybrid formation with highly homologous pseudogenes. Because a relatively high percentage (∼25%) of clinically prescribed drugs are substrates for this enzyme, accurate determination of its genotype for phenotype prediction is essential. Methods: A cohort of 365 patient samples was genotyped for CYP2D6 using Sanger sequencing (as the gold standard), hydrolysis probe assays or pyrosequencing. Results: A discrepant result between the three genotyping methods for the loss of function CYP2D6*3 (g.2549delA, rs35742686) genetic variant was found in one of the samples. This sample also contained the CYP2D6 g.2470T>C (rs17002852) variation, which had an allele frequency of 2.47% in our cohort. Redesign of the CYP2D6*3 pyrosequencing and hydrolysis probe assays to avoid CYP2D6 g.2470 corrected the anomaly. Conclusion: To evidence allele drop out and increase the accuracy of genotyping, intra-patient validation of the same genetic variation with at least two separate methods should be considered.

Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays

1998 ◽  
Vol 49 (3) ◽  
pp. 369-376 ◽  
Author(s):  
Christel Nilsson ◽  
Min Jiang ◽  
Kim Pettersson ◽  
Antti Iitiä ◽  
Minna Mäkelä ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Dna Hybridization ◽  
Genetic Variant ◽  
Common Genetic Variant

scholarly journals Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome

Heart Rhythm ◽  
2019 ◽  
Vol 16 (11) ◽  
pp. 1686-1695 ◽  
Author(s):  
Nikhil V. Chavali ◽  
Dmytro O. Kryshtal ◽  
Shan S. Parikh ◽  
Lili Wang ◽  
Andrew M. Glazer ◽  
...  
Keyword(s):  
Pluripotent Stem Cell ◽  
Genetic Variant ◽  
Cell Model ◽  
Rapid Determination ◽  
Induced Pluripotent Stem Cell ◽  
Long Qt ◽  
Stem Cell Model ◽  
Qt Syndrome ◽  
Induced Pluripotent

scholarly journals Actigenetic of ACE gene polymorphism in Czech obese sedentary females

2009 ◽  
pp. S47-S52
Author(s):  
P Suchánek ◽  
JA Hubáček ◽  
I Králová Lesná ◽  
V Pinekerová ◽  
V Adámková
Keyword(s):  
Weight Loss ◽  
Intervention Program ◽  
Genetic Variant ◽  
Optimal Level ◽  
Major Effect ◽  
Research Centre ◽  
Ace Gene ◽  
Before And After ◽  
Healthy Obese

Obesity is a serious health problem worldwide and many genes have been implicated in determination of obesity, but our knowledge of the genes responsible for individual differences in weight loss after physical intervention are poor. One of the candidate genes is a gene for angiotensin-converting enzyme (ACE) ant its insertion/deletion (I/D) polymorphism. We have analyzed the association between the ACE gene variant in intervened obese females. Twenty four unrelated healthy obese (BMI > 29.9 kg/m2, with abdominal type of obesity) premenopausal (age between 25 and 45 years) Czech Caucasian sedentary and non-diabetic females, pre-selected according the ACE I/D polymorphism (twelve II and twelve DD homozygotes) were studied in a medical research centre. They underwent 9 weeks intervention program (combination of the lowering of dietary intake to optimal level for the age and 3 times a week physical activity at fitness centre). The participants were supervised to sustain a heart rate of 65 % of maximum. Anthropometrical, biochemical parameters and body composition (Bodystat 1500) were analyzed before and after the intervention. Our study suggest, that in Czech Caucasian females I/D polymorphism within the ACE gene will have no major effect on weight loss. Interestingly, we have detected, that in obese females II genotype was associated with higher increase in basal metabolic rate (202 kcal per day) then in DD homozygotes (p<0.05), thus at least under some circumstances, this genetic variant may have an slight effect on BMI development.

Galactic orbits of stars

1966 ◽  
Vol 25 ◽  
pp. 93-97
Author(s):  
Richard Woolley
Keyword(s):  
Globular Cluster ◽  
Potential Field ◽  
High Velocity ◽  
Velocity Vector ◽  
Variable Stars ◽  
The Sun ◽  
Proper Motions ◽  
Rr Lyrae ◽  
The Galaxy

It is now possible to determine proper motions of high-velocity objects in such a way as to obtain with some accuracy the velocity vector relevant to the Sun. If a potential field of the Galaxy is assumed, one can compute an actual orbit. A determination of the velocity of the globular clusterωCentauri has recently been completed at Greenwich, and it is found that the orbit is strongly retrograde in the Galaxy. Similar calculations may be made, though with less certainty, in the case of RR Lyrae variable stars.

Distance to SN 1987A and the LMC

1999 ◽  
Vol 190 ◽  
pp. 549-554
Author(s):  
Nino Panagia
Keyword(s):  
Angular Size ◽  
Large Magellanic Cloud ◽  
Magellanic Cloud ◽  
Light Curves ◽  
Distance Modulus ◽  
Absolute Size ◽  
Sn 1987A

Using the new reductions of the IUE light curves by Sonneborn et al. (1997) and an extensive set of HST images of SN 1987A we have repeated and improved Panagia et al. (1991) analysis to obtain a better determination of the distance to the supernova. In this way we have derived an absolute size of the ringRabs= (6.23 ± 0.08) x 1017cm and an angular sizeR″ = 808 ± 17 mas, which give a distance to the supernovad(SN1987A) = 51.4 ± 1.2 kpc and a distance modulusm–M(SN1987A) = 18.55 ± 0.05. Allowing for a displacement of SN 1987A position relative to the LMC center, the distance to the barycenter of the Large Magellanic Cloud is also estimated to bed(LMC) = 52.0±1.3 kpc, which corresponds to a distance modulus ofm–M(LMC) = 18.58±0.05.

International determination of the total motion of the pole

1961 ◽  
Vol 13 ◽  
pp. 29-41
Author(s):  
Wm. Markowitz
Keyword(s):  
Secular Motion ◽  
The Future

A symposium on the future of the International Latitude Service (I. L. S.) is to be held in Helsinki in July 1960. My report for the symposium consists of two parts. Part I, denoded (Mk I) was published [1] earlier in 1960 under the title “Latitude and Longitude, and the Secular Motion of the Pole”. Part II is the present paper, denoded (Mk II).

Time and Latitude in South Africa

1972 ◽  
Vol 1 ◽  
pp. 27-38
Author(s):  
J. Hers
Keyword(s):  
South Africa ◽  
Cape Town ◽  
Astronomical Observations ◽  
Royal Observatory ◽  
The Republic ◽  
Astronomical Determination ◽  
Limited Accuracy ◽  
Better Than

In South Africa the modern outlook towards time may be said to have started in 1948. Both the two major observatories, The Royal Observatory in Cape Town and the Union Observatory (now known as the Republic Observatory) in Johannesburg had, of course, been involved in the astronomical determination of time almost from their inception, and the Johannesburg Observatory has been responsible for the official time of South Africa since 1908. However the pendulum clocks then in use could not be relied on to provide an accuracy better than about 1/10 second, which was of the same order as that of the astronomical observations. It is doubtful if much use was made of even this limited accuracy outside the two observatories, and although there may – occasionally have been a demand for more accurate time, it was certainly not voiced.

Large-scale Motion of Solar Filaments

2000 ◽  
Vol 179 ◽  
pp. 205-208
Author(s):  
Pavel Ambrož ◽  
Alfred Schroll
Keyword(s):  
Magnetic Flux ◽  
Proper Motion ◽  
Time Scale ◽  
Large Scale ◽  
Accuracy Of Measurements ◽  
Solar Filaments ◽  
General Movement ◽  
Scale Motion ◽  
Velocity Scatter

AbstractPrecise measurements of heliographic position of solar filaments were used for determination of the proper motion of solar filaments on the time-scale of days. The filaments have a tendency to make a shaking or waving of the external structure and to make a general movement of whole filament body, coinciding with the transport of the magnetic flux in the photosphere. The velocity scatter of individual measured points is about one order higher than the accuracy of measurements.

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