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Intro to Cytogenetics: Involves the study of chromosomes, both the number and the structure are analyzed by conventional techniques (G-banding) Molecular Cytogenetics (FISH and microarrays) have extended capabilities of identifying abnormalities. Constitutional studies: chromosome abnormalities present at birth.
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1. Transmission of genetic information serves as a link between generations in every species. 2. Genetics is central to human affairs (food, health). 3. Genetic information is the basis for every process and structure in an organism. 4. The three main approaches to studying genetics unify the study of biology. 5.
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Classification of Genetic Variation. ‘Mutation’ Change in DNA sequence from wild type. Often used as short-hand for pathogenic variant. ‘Polymorphism, or DNA variant’ A variation of the DNA sequence (at a specific locus) that is present in more than 1% of the population (minor allele frequency; MAF >1%) ‘Non-polymorphic’ The DNA ...
Geneticists believe that the methods and techniques of genetics are applicable throughout the spectrum of biological activity, and are as relevant to molecular biology as to population studies. Some of the basic tools of modern biology (analysis of genomic sequences and bioinformatics) are most intelligently used in the knowledge of the genetic ...
- Study of the transcriptome (the RNA of a cell) - One reason of interest: Harder to measure proteins (the functional molecules!), but we can sequence RNA as a (highly imperfect) proxy for proteins to quantify cell state Proteomics - Study of the proteins in a cell
6.2 Why might someone have a genetic consultation? 126 6.3 What happens during a genetic consultation? 127 6.4 How can I find a genetics professional in my area? 128 6.5 What is the prognosis of a genetic condition? 129 6.6 How are genetic conditions diagnosed? 131 6.7 How are genetic conditions treated or managed? 133 7 Genetic Testing 135
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Jul 8, 2009 · GENETICS 101. Almost every human trait and disease has a genetic component, whether inherited or influenced by behavioral factors such as exercise. Genetic components can also modify the body’s response to environmental factors such as toxins. Understanding the underlying concepts of human genetics and the role of genes, behavior, and the ...
