Implications of the Hiroshima–Nagasaki genetic studies for the estimation of the human "doubling dose" of radiation

Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 853-859 ◽  
Author(s):  
J. V. Neel ◽  
W. J. Schull ◽  
A. A. Awa ◽  
C. Satoh ◽  
M. Otake ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Genetic Effect ◽  
Genetic Effects ◽  
Physical Growth ◽  
Genetic Studies ◽  
Doubling Dose ◽  
The Difference ◽  
Effects Of Radiation ◽  
Dose Radiation

Since 1946 a continuous effort to evaluate the potential genetic effects of the atomic bombs has been sustained. Observations on children born in Hiroshima and Nagasaki include sex ratio, congenital malformations, stillbirths, survival of liveborn infants, chromosomal abnormalities (sex chromosomal abnormalities and balanced chromosomal rearrangements), mutations altering protein structure or activity, and physical growth and development. There are no statistically significant differences between the children of parents who received increased amounts of radiation at the time of the bombings and those whose parents did not. However, the difference between the two sets of children is consistent with the hypothesis of a genetic effect of the exposure, but its magnitude suggests humans are not as sensitive to the genetic effects of radiation as projected from the mouse paradigm.Key words: Hiroshima–Nagasaki, genetic doubling dose, radiation.

scholarly journals Interpreting Polygenic Score Effects in Sibling Analysis

2021 ◽  
Author(s):  
Jason Fletcher ◽  
Yuchang Wu ◽  
Tianchang Li ◽  
Qiongshi Lu
Keyword(s):  
Measurement Error ◽  
Indirect Effect ◽  
Genetic Effect ◽  
Bias Reduction ◽  
Genetic Effects ◽  
Genetic Studies ◽  
Indirect Genetic Effect ◽  
Typical Data ◽  
Polygenic Scores ◽  
Sibling Models

Researchers often claim that sibling analysis can be used to separate causal genetic effects from the assortment of biases that contaminate most downstream genetic studies. Indeed, typical results from sibling models show large (>50%) attenuations in the associations between polygenic scores and phenotypes compared to non-sibling models, consistent with researchers' expectations about bias reduction. This paper explores these expectations by using family (quad) data and simulations that include indirect genetic effect processes and evaluates the ability of sibling models to uncover direct genetic effects. We find that sibling models, in general, fail to uncover direct genetic effects; indeed, these models have both upward and downward biases that are difficult to sign in typical data. When genetic nurture effects exist, sibling models create 'measurement error' that attenuate associations between polygenic scores and phenotypes. As the correlation between direct and indirect effect changes, this bias can increase or decrease. Our findings suggest that interpreting results from sibling analysis aimed at uncovering direct genetic effects should be treated with caution.

scholarly journals Genomic prediction with non-additive effects in beef cattle: stability of variance component and genetic effect estimates against population size

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Akio Onogi ◽  
Toshio Watanabe ◽  
Atsushi Ogino ◽  
Kazuhito Kurogi ◽  
Kenji Togashi
Keyword(s):  
Population Size ◽  
Genomic Prediction ◽  
Variance Components ◽  
Variance Component ◽  
Predictive Accuracy ◽  
Genetic Effect ◽  
Genetic Effects ◽  
Additive Effects ◽  
Additive Variance ◽  
Additive Genetic Effects

Abstract Background Genomic prediction is now an essential technology for genetic improvement in animal and plant breeding. Whereas emphasis has been placed on predicting the breeding values, the prediction of non-additive genetic effects has also been of interest. In this study, we assessed the potential of genomic prediction using non-additive effects for phenotypic prediction in Japanese Black, a beef cattle breed. In addition, we examined the stability of variance component and genetic effect estimates against population size by subsampling with different sample sizes. Results Records of six carcass traits, namely, carcass weight, rib eye area, rib thickness, subcutaneous fat thickness, yield rate and beef marbling score, for 9850 animals were used for analyses. As the non-additive genetic effects, dominance, additive-by-additive, additive-by-dominance and dominance-by-dominance effects were considered. The covariance structures of these genetic effects were defined using genome-wide SNPs. Using single-trait animal models with different combinations of genetic effects, it was found that 12.6–19.5 % of phenotypic variance were occupied by the additive-by-additive variance, whereas little dominance variance was observed. In cross-validation, adding the additive-by-additive effects had little influence on predictive accuracy and bias. Subsampling analyses showed that estimation of the additive-by-additive effects was highly variable when phenotypes were not available. On the other hand, the estimates of the additive-by-additive variance components were less affected by reduction of the population size. Conclusions The six carcass traits of Japanese Black cattle showed moderate or relatively high levels of additive-by-additive variance components, although incorporating the additive-by-additive effects did not improve the predictive accuracy. Subsampling analysis suggested that estimation of the additive-by-additive effects was highly reliant on the phenotypic values of the animals to be estimated, as supported by low off-diagonal values of the relationship matrix. On the other hand, estimates of the additive-by-additive variance components were relatively stable against reduction of the population size compared with the estimates of the corresponding genetic effects.

scholarly journals Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

2020 ◽  
Vol 13 (1) ◽  
pp. 9-14
Author(s):  
Golamreza Bahoush ◽  
Maryam Vafapour ◽  
Roxana Kariminejad
Keyword(s):  
Gene Rearrangement ◽  
Cytogenetic Study ◽  
Lymphoblastic Leukemia ◽  
Monozygotic Twins ◽  
Protective Role ◽  
Genetic Studies ◽  
Cytogenetic Testing ◽  
The Difference ◽  
Special Case ◽  
Mll Gene Rearrangement

About 2–5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations.

scholarly journals Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

2009 ◽  
Vol 161 (1) ◽  
pp. 179-187 ◽  
Author(s):  
Anne Bachelot ◽  
Agnès Rouxel ◽  
Nathalie Massin ◽  
Jérome Dulon ◽  
Carine Courtillot ◽  
...  
Keyword(s):  
Premature Ovarian Failure ◽  
Chromosomal Abnormalities ◽  
Phenotypic Variability ◽  
Genetic Data ◽  
Ovarian Failure ◽  
Mineral Density ◽  
Genetic Studies ◽  
Autoimmune Polyendocrine Syndrome ◽  
Design And Methods

ObjectivePremature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis.Design and methodsWe performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center.ResultsSeventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1.ConclusionA genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

scholarly journals PENGEMBANGAN SOSIS GASUHIRU BERBASIS PANGAN LOKAL IKAN GABUS “TOKOK” DAN TEPUNG KOMPOSIT TERHADAP SIFAT ORGANOLEPTIK, KADAR ZAT GIZI DAN DAYA TERIMA SOSIS GASUHIRU.

2019 ◽  
Vol 4 (1) ◽  
pp. 24
Author(s):  
Dwi Khotimah ◽  
Abdul Salam ◽  
AASP Chandradewi ◽  
Irianto Irianto
Keyword(s):  
Physical Growth ◽  
Composite Flour ◽  
Treatment Comparison ◽  
Tukey Test ◽  
Current State ◽  
Trust Level ◽  
The Difference ◽  
The Impact ◽  
One Way Anova

Background. Nutrition less in infants is a health problem around the world especially the countries develop. In Indonesia nutritional problems less in toddlers about 19.6%. Nutritional problems have little effect on the low quality of human resources, especially the impact of toddlers who are malnourished by poor brain development, unoptimal physical growth, and metabolic developments (the Kemenkes RI, 2014). The current state of nutrition especially in children is still ematitiate. Given the impact of the nutrient less widespread, it is necessary to do a handling of PMT in the form of sausages using local food that is effective in increasing the weight of children with less nutritional nutrition.Metodelogi. In this study used experimental research Desan with a complete random draft (RAL) One treatment comparison of cork fish with composite flour 75%: 25% 80%: 20% 85%: 15%. Data processing. Processing of data obtained from observations presented in the form of tables, to find out the nature of organoleptic (aroma, flavor, texture and color) in each addition of the sausage making materials processed and analyzed using a statistical analysis of One Way Anova at a trust level of 95% (A = 0.05). If there is a significant impact, the data is analyzed further using the Tukey test to see which treatment is causing the difference. Research results. The comparison of cork fish and composite flour is significant effect on the taste color of texture and aroma. The PMT of Gasuhiru sausage contains 262KKL and 16.72 gr of protein in 100gr. Gasuhiru sausage receiving 83.3% well received.Conclusion: The most liked sausage is a comparison of 85%: 15%. The administration of PMT provides a significant effect on children's weight loss and is 3 times greater than the Conntrol group.

scholarly journals Genetic causes of reproductive problems in the Bosnian women population

2018 ◽  
Vol 9 (5) ◽  
pp. 12-16
Author(s):  
Mirela Mackic-Djurovic ◽  
Dunja Rukavina ◽  
Lejla Ahmetas
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Population Sample ◽  
Medical Sciences ◽  
Abnormal Karyotype ◽  
Female Population ◽  
Reproductive Disorder ◽  
The Difference ◽  
Bosnian Women

Background: The causes of infertility and recurrent spontaneous abortions are diverse and numerous – including non-genetic and genetic factors – whereby the importance of genetic factors in pathogenesis of infertility is becoming more and more common. Chromosomal abnormalities and genetic defects can cause reproduction failures, and for this reason genetic analysis can play an important role in reproductive problems research.Aims and Objective: This study aims to determine the type and frequency of chromosomalaberrations in the female population sample, as well as to determine if the difference between groups with and without chromosomal aberrations was statistically significant.Materials and Methods: One hundred women aged 15-46 were included in the study, allhaving different reproductive disorder diagnoses and requiring karyotype analysis in the Sarajevo Medical Faculty Genetic Center. Cytogenetic analysis was performed on the peripheral blood, which was cultured for four days, using GTG banding forchromosomalanalysis.Results: Out of 100 women included in the study, an abnormal karyotype was found in 16 of them (16%). The difference between the frequency of normal and abnormal karyotype in women with reproductive problems identified in this study was found to be statistically significant. The pattern of chromosomal aberrations was similar to that reported in the previous cytogenetic studies with similar inclusion criteria.Conclusion: This fact should be taken in the consideration in order to estimate true etiology of reproductive problems and it is a valuable information in the process of genetic counseling and decision making in assisted reproductive technology.Asian Journal of Medical Sciences Vol.9(5) 2018 12-16

Perspective on Genetic Effects of Radiation

1984 ◽  
Vol 46 (5) ◽  
pp. 1113-1121 ◽  
Author(s):  
Bernard L. Cohen
Keyword(s):  
Genetic Effects ◽  
Effects Of Radiation
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