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Deleterious Mutations In Man


Deleterious Mutations In Man
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Crumbling Genome


Crumbling Genome
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Author : Alexey S. Kondrashov
language : en
Publisher: John Wiley & Sons
Release Date : 2017-05-16

Crumbling Genome written by Alexey S. Kondrashov and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-16 with Science categories.


A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing Despite all of the elaborate mechanisms that a cell employs to handle its DNA with the utmost care, a newborn human carries about 100 new mutations, originated in their parents, about 10 of which are deleterious. A mutation replacing just one of the more than three billion nucleotides in the human genome may lead to synthesis of a dysfunctional protein, and this can be inconsistent with life or cause a tragic disease. Several percent of even young people suffer from diseases that are caused, exclusively or primarily, by pre ]existing and new mutations in their genomes, including both a wide variety of genetically simple Mendelian diseases and diverse complex diseases such as birth anomalies, diabetes, and schizophrenia. Milder, but still substantial, negative effects of mutations are even more pervasive. As of now, we possess no means of reducing the rate at which mutations appear spontaneously. However, the recent flood of genomic data made possible by next-generation methods of DNA sequencing, enabled scientists to explore the impacts of deleterious mutations on humans with previously unattainable precision and begin to develop approaches to managing them. Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome reviews the current state of knowledge about deleterious mutations and their effects on humans for those in the biological sciences and medicine, as well as for readers with only a general scientific literacy and an interest in human genetics. Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes Provides a comprehensive review of the current state of knowledge in the field and considers crucial unsolved problems Explores key ethical, scientific, and social issues likely to become relevant in the near future as the modification of human germline genotypes becomes technically feasible Crumbling Genome is must-reading for students and professionals in human genetics, genomics, bioinformatics, evolutionary biology, and biological anthropology. It is certain to have great appeal among all those with an interest in the links between genetics and evolution and how they are likely to influence the future of human health, medicine, and society.



Deleterious Mutations In Man


Deleterious Mutations In Man
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Author : Newton Freire-Maia
language : en
Publisher:
Release Date : 1960

Deleterious Mutations In Man written by Newton Freire-Maia and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1960 with Consanguinity categories.




How Science Proves That The Theory Of Evolution Is Impossible Why Humans Can Never Evolve From Mutations Transpiring And How Humans Can Be Augmented By Becoming Cyborgs


How Science Proves That The Theory Of Evolution Is Impossible Why Humans Can Never Evolve From Mutations Transpiring And How Humans Can Be Augmented By Becoming Cyborgs
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Author : Dr Harrison Sachs
language : en
Publisher:
Release Date : 2020-02-08

How Science Proves That The Theory Of Evolution Is Impossible Why Humans Can Never Evolve From Mutations Transpiring And How Humans Can Be Augmented By Becoming Cyborgs written by Dr Harrison Sachs and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-02-08 with categories.


This essay sheds light on how science proves that the theory of evolution is impossible and also elucidates why humans can never evolve from mutations transpiring. Moreover, how humans can be augmented by becoming cyborgs is delineated in this essay. In spite of what you were indoctrinated to believe, it is not only easier than anytime in history to utilize science to vindicate the existence of God, the quintessential, divine creator and master of the multiverse, but it is also easier to disprove the illogical theory of evolution. Human beings were created by God and are sheer and utter consciousness as multidimensional, spiritual beings who vicariously experience this simulated reality through their earthly avatars, receivers, vessels, or bodies as most people like to call them. Humans were created by God and have profusely devolved overtime from mutations transpiring. Mutations are always deleterious and are never beneficial to the human species. Mutations always cause you to lose genetic information and never gain genetic information. The theory of evolution makes the irrational contention that mutations are beneficial, when in fact the polar opposite is true. The occurrence of mutations is never salubrious, but rather is always deleterious. Mutations to the genes are always adverse changes which bastardizes the original genetic code. A human being's earthly vessel can never organically change it something outside the parameters of its DNA in this simulation. If the human genome can be thought of as a book then the occurrence of a mutation can always be thought of as outright ripping a chapter out of a book, hence bastardizing the original genetic code and devolving the earthly vessel of the being. Humans are a maladaptive species that can never possess the ability to physically evolve in this simulated reality, because unlike the fictitious Pokemon characters, human beings only have the anatomy to physically devolve into lesser humans beings if they succumb to genetic mutations. These genetic mutations cause humans beings to loose more and more of their original, sacrosanct genetic code and bastardizes their genomes. In other words, genetic mutations will always adversely impinge on your original genetic code in all facets and will devolve you as you loose more and more of your irreplaceable genetic code in this simulated reality. Nothing salubrious nor fruitful can ever ensue from mutations transpiring. Another fallacy of the theory of evolution, beyond mutation being falsely perceived as beneficial, is the groundless notion that something can come from nothing. The contention that something can come from nothing in a cause and effect simulated reality does not make any rational sense. There is a cause behind every effect and every effect can be traced back to a cause. If this fallacy of life emerging from nothing were the case then humans would be spawning out of nowhere. In spite of its sheer asininity, most people mistakenly believe that humans can come from nothing and are not their own separate species. The theory of evolution is a groundless theory that does not offer a modicum of scientific merit in any facet. Human beings have devolved overtime due to the deleterious occurrence of genetic mutations. Moreover, humans beings do not have the anatomy to ever physically evolve in this simulated reality, unlike the fictitious Pokemon characters. Humans are a maladaptive species that are perhaps preordained to further devolve overtime as they succumb to more and more adverse genetic mutations due to living insalubrious lives fraught with calamitous issues that eminently impinge on their health, happiness, and well-being. In other words, humans are not even livings salubrious lives and it would behoove humans to focus on living salubrious lives which are conducive to optimizing their health so that they can safeguard the structural integrity of their sacrosanct genetic code and mitigate risks for mutations transpiring.



On The Beneficial Effects Of Deleterious Mutations


On The Beneficial Effects Of Deleterious Mutations
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Author : Arthur W. Covert
language : en
Publisher:
Release Date : 2010

On The Beneficial Effects Of Deleterious Mutations written by Arthur W. Covert and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010 with Evolution (Biology) categories.




Secular Changes In Sexual And Natural Selection Against Deleterious Genetic Mutations In Humans


Secular Changes In Sexual And Natural Selection Against Deleterious Genetic Mutations In Humans
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Author : Ruben Cem Arslan
language : en
Publisher:
Release Date : 2017

Secular Changes In Sexual And Natural Selection Against Deleterious Genetic Mutations In Humans written by Ruben Cem Arslan and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.


All genetic variation once arose by mutation. Genetic variation is the substance on which natural selection can act, but mutations are random. Therefore, new variations usually have negative or no effects on an organism's evolutionary fitness. This dissertation is not about the exciting exceptions to this rule, which drive evolutionary adaptation, but about harmful mutations. We know that the average human child is born with 70-100 genetic variants that its parents did not carry, around 2.2 of which are estimated to be harmful. Why don't these harmful mutations build up irreversibly? Natura...



Most Of Rare Missense Alleles In Humans Are Deleterious


Most Of Rare Missense Alleles In Humans Are Deleterious
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Author :
language : en
Publisher:
Release Date : 2006

Most Of Rare Missense Alleles In Humans Are Deleterious written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006 with categories.


The accumulation of mildly deleterious missense mutations inindividual human genomes has been proposed to be a genetic basis forcomplex diseases. The plausibility of this hypothesis depends onquantitative estimates of the prevalence of mildly deleterious de novomutations and polymorphic variants in humans and on the intensity ofselective pressure against them. We combined analysis of mutationscausing human Mendelian diseases, human-chimpanzee divergence andsystematic data on human SNPs and found that about 20 percent of newmissense mutations in humans result in a loss of function, while about 27percent are effectively neutral. Thus, more than half of new missensemutations have mildly deleterious effects. These mutations give rise tomany low frequency deleterious allelic variants in the human populationas evident from a new dataset of 37 genes sequenced in over 1,500individual human chromosomes. Surprisingly, up to 70 percent of lowfrequency missense alleles are mildly deleterious and associated with aheterozygous fitness loss in the range 0.001-0.003. Thus, the low allelefrequency of an amino acid variant can by itself serve as a predictor ofits functional significance. Several recent studies have reported asignificant excess of rare missense variants in disease populationscompared to controls in candidate genes or pathways. These studies wouldbe unlikely to work if most rare variants were neutral or if rarevariants were not a significant contributor to the genetic component ofphenotypic inheritance. Our results provide a justification for thesetypes of candidate gene (pathway) association studies and imply thatmutation-selection balance may be a feasible mechanism for evolution ofsome common diseases.



Secular Changes In Sexual And Natural Selection Against Deleterious Genetic Mutations In Humans


Secular Changes In Sexual And Natural Selection Against Deleterious Genetic Mutations In Humans
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Author : Ruben Cem Arslan
language : en
Publisher:
Release Date : 2017

Secular Changes In Sexual And Natural Selection Against Deleterious Genetic Mutations In Humans written by Ruben Cem Arslan and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.


All genetic variation once arose by mutation. Genetic variation is the substance on which natural selection can act, but mutations are random. Therefore, new variations usually have negative or no effects on an organism's evolutionary fitness. This dissertation is not about the exciting exceptions to this rule, which drive evolutionary adaptation, but about harmful mutations. We know that the average human child is born with 70-100 genetic variants that its parents did not carry, around 2.2 of which are estimated to be harmful. Why don't these harmful mutations build up irreversibly? Natura...



Mutation And Evolution


Mutation And Evolution
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Author : Ronny C. Woodruff
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06

Mutation And Evolution written by Ronny C. Woodruff and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Science categories.


Although debated since the time of Darwin, the evolutionary role of mutation is still controversial. In over 40 chapters from leading authorities in mutation and evolutionary biology, this book takes a new look at both the theoretical and experimental measurement and significance of new mutation. Deleterious, nearly neutral, beneficial, and polygenic mutations are considered in their effects on fitness, life history traits, and the composition of the gene pool. Mutation is a phenomenon that draws attention from many different disciplines. Thus, the extensive reviews of the literature will be valuable both to established researchers and to those just beginning to study this field. Through up-to-date reviews, the authors provide an insightful overview of each topic and then share their newest ideas and explore controversial aspects of mutation and the evolutionary process. From topics like gonadal mosaicism and mutation clusters to adaptive mutagenesis, mutation in cell organelles, and the level and distribution of DNA molecular changes, the foundation is set for continuing the debate about the role of mutation, fitness, and adaptability. It is a debate that will have profound consequences for our understanding of evolution.



Heritable Human Genome Editing


Heritable Human Genome Editing
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Author : The Royal Society
language : en
Publisher: National Academies Press
Release Date : 2021-01-16

Heritable Human Genome Editing written by The Royal Society and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-16 with Medical categories.


Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.



Health Effects Of Exposure To Low Levels Of Ionizing Radiation


Health Effects Of Exposure To Low Levels Of Ionizing Radiation
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Author : National Research Council
language : en
Publisher: National Academies
Release Date : 1990-02-01

Health Effects Of Exposure To Low Levels Of Ionizing Radiation written by National Research Council and has been published by National Academies this book supported file pdf, txt, epub, kindle and other format this book has been release on 1990-02-01 with Science categories.


This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.