Chapter 062. Principles of Human Genetics (Part 28) ppsx
Chapter 062. Principles of Human Genetics (Part 1) ppsx
... (Table 62 -1). The
ongoing refinement of bioinformatics is simplifying the access to this seemingly
daunting onslaught of new information.
Chapter 062. Principles of
Human Genetics
(Part 1)
... Internal Medicine > Chapter 62. Principles of Human
Genetics
Impact of Genetics on Medical Practice
Impact of Genetics on Medical Practice: Introducti...
Chapter 062. Principles of Human Genetics (Part 1) pdf
... Bases of
Inherited Disease
(OMMBID)
http:/ /genetics. accessmedicine.com Online
version of the
comprehensive text
on The Metabolic
and Molecular
Bases of Inherited
Disease, 8e
Chapter 062. ...
on The Metabolic
and Molecular
Bases of Inherited
Disease, 8e
Chapter 062. Principles of
Human Genetics
(Part 1)
Table 62-1 Selected Databases Relevant for...
Chapter 062. Principles of Human Genetics (Part 4) ppsx
... (or linked
genes) with the presence of a disease or genetic trait (see below).
Chapter 062. Principles of
Human Genetics
(Part 4)
Figure 62-2
Flow of genetic information. Multiple extracellular ... regulation of gene expression
through the interaction of transcription factors with regulatory regions of genes.
RNA polymerase transcribes DNA into RNA that is...
Chapter 062. Principles of Human Genetics (Part 5) pot
... Chapter 062. Principles of
Human Genetics
(Part 5)
Figure 62-3
Crossing-over and genetic recombination. During chiasma formation,
either of the two sister chromatids ... sequences upstream
(5') of the transcription start site, although there are also examples of control
elements within introns or downstream of the coding regions of a gene. The
upstream...
Chapter 062. Principles of Human Genetics (Part 6) potx
... deletion mutations of the β-
globin gene or larger deletions of the globin locus that can also result in
Chapter 062. Principles of
Human Genetics
(Part 6)
The number of DNA sequences and ...
Figure 62-5
A. Examples of mutations. The coding strand is shown with the encoded
amino acid sequence. B. Chromatograms of sequence analyses after amplification
of g...
Chapter 062. Principles of Human Genetics (Part 7) potx
... receptor.
Chapter 062. Principles of
Human Genetics
(Part 7)
Transcriptional Activation and Repression
Every gene is controlled uniquely, whether in its spatial or temporal pattern
of expression ... representative of this group of
diseases; mutations in several different islet cell–specific transcription factors
cause various forms of MODY (Chap. 338).
Table...
Chapter 062. Principles of Human Genetics (Part 8) docx
... are widely used in genetics and molecular
diagnostics, however, it is useful to review briefly some of the fundamental
principles of cloning and DNA sequencing.
Cloning of Genes
Cloning refers ... DNA
A description of recombinant DNA techniques, the methodology used for
the manipulation, analysis, and characterization of DNA segments, is beyond the
scope of this chapter...
Chapter 062. Principles of Human Genetics (Part 9) potx
... Chapter 062. Principles of
Human Genetics
(Part 9)
Nucleic Acid Hybridization
Nucleic acid hybridization is a fundamental principle in molecular biology
that takes advantage of the ... expression pattern of large numbers of mRNA transcripts can be determined
by hybridization of RNA samples to cDNA or genomic microarrays. This method
has tremendous potential in...
Chapter 062. Principles of Human Genetics (Part 10) docx
... integration of
transgene
Transgenic
Pronuclear
injection of transgene
Variable copy numbers of
transgene
Chapter 062. Principles of
Human Genetics
(Part 10)
Transgenic Mice as Models of Genetic ... are relevant to human physiology reflects
a surprising conservation of genetic pathways and gene function. Transgenic
mouse models have been particularly v...
Chapter 062. Principles of Human Genetics (Part 12) pptx
... Chapter 062. Principles of
Human Genetics
(Part 12)
The Genetic Map
Given the size and complexity of the human genome, initial efforts aimed
at ... the identification of disease-causing genes by
positional cloning.
Recent insights into the structure of the normal human genome show that
certain blocks of DNA sequences, often containing numerous ...
corres...
Chapter 062. Principles of Human Genetics (Part 13) pptx
... 64). The application of screening and prevention strategies will
Chapter 062. Principles of
Human Genetics
(Part 13)
The Human DNA Sequence
The complete DNA sequence of each chromosome provides ... fundamental principles of genetics. The
pervasive nature of the role of genetics in medicine makes it imperative for
physicians and other health care profes...
Chapter 062. Principles of Human Genetics (Part 14) pps
... development, leading to
gonadal mosaicism.
Chapter 062. Principles of
Human Genetics
(Part 14)
Transmission of Genetic Disease
Origins and Types of Mutations
A mutation can be defined as ... an important cause of genetic
diversity as well as disease. Mutation rates are difficult to determine in humans
because many mutations are silent and because testing is o...
Chapter 062. Principles of Human Genetics (Part 26) ppsx
... genes can be mapped using allelic association
studies (Table 62-8).
Chapter 062. Principles of
Human Genetics
(Part 26)
Table 62-8 Genetic Approaches for Identifying Disease Genes
Method ... or increase
susceptibility to human disease: (1) classic linkage can be performed based on a
known genetic model or, when the model is unknown, by studying pairs of
affecte...
Chapter 062. Principles of Human Genetics (Part 28) ppsx
... contributing to the pathogenesis of common
complex disorders remains a great challenge. In many instances, these are low-
Chapter 062. Principles of
Human Genetics
(Part 28)
Allelic Association, ... cost and workload
(Fig. 62-8).
The availability of this information permits the characterization of a limited
number of SNPs to identify the set of haplotypes pr...
Chapter 062. Principles of Human Genetics (Part 29) ppsx
... but the largest genes (Fig. 62-14).
Figure 62-14
Chapter 062. Principles of
Human Genetics
(Part 29)
Population Genetics
In population genetics, the focus changes from alterations in an ... with p
2
corresponding to the frequency of AA, 2pq to the
frequency of Aa, and q
2
to aa. When the frequency of an allele is known, the
frequency of the genotype can b...
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