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Non-Mendelian Genetics in Humans (Hardcover, New)
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Non-Mendelian Genetics in Humans (Hardcover, New)
Series: Oxford Monographs on Medical Genetics, 35
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When rediscovered at the turn of the century, Mendel's laws were
found to be applicable to humans, but from the beginning they were
fraught with problems. Sex-linked traits and linked genes defied
Mendel's rules. Later, other exceptions were found, including
sporadic cases, non-penetrance, variable expressivity, and
preferential parental transmission.
In this book, Harry Ostrer observes that some of these problems
can be explained by incomplete ascertainment, typing errors and
modifying genes. He then goes on to systematically explore the
evidence for a number of newer genetic processes that were not
foreseen by Mendel and his intellectual heirs, examining the
molecular basis for these processes and their effects on
transmission and phenotype. He shows that these non-Mendelian
processes--gonadal and somatic mosaicism, sex-linked inheritance,
mitochondrial transmission, genomic imprinting, accelerated rates
of mutation, and viral infection--resolve many of the exceptions to
Mendelian inheritance. He also provides a complete review of
Mendelian genetics, as well as an overview of the structure and
functions of genes, chromosomes, and their products. Thus the book
presents a holistic view of human genetics.
In the last chapter, Ostrer grapples with the possibilities for
identifying new genetic processes, and with genetic
determinism--the view that a person's phenotype is fully subject to
his or her genetic constitution. He contends that despite the large
number of genetic combinations, phenotypes cannot be predicted
precisely, even with sufficient computing power. Genetic processes
are frequently modified by environmental exposure or they may be
random or stochastic in theiroccurrence. Hence, there are innate
limits to genetic determinism. Although prediction of phenotype
based on genotype will improve in the future as all of the human
genes are identified, such predictions will always remain
imprecise.
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