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Crumbling Genome - The Impact of Deleterious Mutations on Humans (Paperback)
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Crumbling Genome - The Impact of Deleterious Mutations on Humans (Paperback)
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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.
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