Advanced Genetics: Mechanisms of Inheritance and Analysis
- Page ID
- 171241
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\(\newcommand{\avec}{\mathbf a}\) \(\newcommand{\bvec}{\mathbf b}\) \(\newcommand{\cvec}{\mathbf c}\) \(\newcommand{\dvec}{\mathbf d}\) \(\newcommand{\dtil}{\widetilde{\mathbf d}}\) \(\newcommand{\evec}{\mathbf e}\) \(\newcommand{\fvec}{\mathbf f}\) \(\newcommand{\nvec}{\mathbf n}\) \(\newcommand{\pvec}{\mathbf p}\) \(\newcommand{\qvec}{\mathbf q}\) \(\newcommand{\svec}{\mathbf s}\) \(\newcommand{\tvec}{\mathbf t}\) \(\newcommand{\uvec}{\mathbf u}\) \(\newcommand{\vvec}{\mathbf v}\) \(\newcommand{\wvec}{\mathbf w}\) \(\newcommand{\xvec}{\mathbf x}\) \(\newcommand{\yvec}{\mathbf y}\) \(\newcommand{\zvec}{\mathbf z}\) \(\newcommand{\rvec}{\mathbf r}\) \(\newcommand{\mvec}{\mathbf m}\) \(\newcommand{\zerovec}{\mathbf 0}\) \(\newcommand{\onevec}{\mathbf 1}\) \(\newcommand{\real}{\mathbb R}\) \(\newcommand{\twovec}[2]{\left[\begin{array}{r}#1 \\ #2 \end{array}\right]}\) \(\newcommand{\ctwovec}[2]{\left[\begin{array}{c}#1 \\ #2 \end{array}\right]}\) \(\newcommand{\threevec}[3]{\left[\begin{array}{r}#1 \\ #2 \\ #3 \end{array}\right]}\) \(\newcommand{\cthreevec}[3]{\left[\begin{array}{c}#1 \\ #2 \\ #3 \end{array}\right]}\) \(\newcommand{\fourvec}[4]{\left[\begin{array}{r}#1 \\ #2 \\ #3 \\ #4 \end{array}\right]}\) \(\newcommand{\cfourvec}[4]{\left[\begin{array}{c}#1 \\ #2 \\ #3 \\ #4 \end{array}\right]}\) \(\newcommand{\fivevec}[5]{\left[\begin{array}{r}#1 \\ #2 \\ #3 \\ #4 \\ #5 \\ \end{array}\right]}\) \(\newcommand{\cfivevec}[5]{\left[\begin{array}{c}#1 \\ #2 \\ #3 \\ #4 \\ #5 \\ \end{array}\right]}\) \(\newcommand{\mattwo}[4]{\left[\begin{array}{rr}#1 \amp #2 \\ #3 \amp #4 \\ \end{array}\right]}\) \(\newcommand{\laspan}[1]{\text{Span}\{#1\}}\) \(\newcommand{\bcal}{\cal B}\) \(\newcommand{\ccal}{\cal C}\) \(\newcommand{\scal}{\cal S}\) \(\newcommand{\wcal}{\cal W}\) \(\newcommand{\ecal}{\cal E}\) \(\newcommand{\coords}[2]{\left\{#1\right\}_{#2}}\) \(\newcommand{\gray}[1]{\color{gray}{#1}}\) \(\newcommand{\lgray}[1]{\color{lightgray}{#1}}\) \(\newcommand{\rank}{\operatorname{rank}}\) \(\newcommand{\row}{\text{Row}}\) \(\newcommand{\col}{\text{Col}}\) \(\renewcommand{\row}{\text{Row}}\) \(\newcommand{\nul}{\text{Nul}}\) \(\newcommand{\var}{\text{Var}}\) \(\newcommand{\corr}{\text{corr}}\) \(\newcommand{\len}[1]{\left|#1\right|}\) \(\newcommand{\bbar}{\overline{\bvec}}\) \(\newcommand{\bhat}{\widehat{\bvec}}\) \(\newcommand{\bperp}{\bvec^\perp}\) \(\newcommand{\xhat}{\widehat{\xvec}}\) \(\newcommand{\vhat}{\widehat{\vvec}}\) \(\newcommand{\uhat}{\widehat{\uvec}}\) \(\newcommand{\what}{\widehat{\wvec}}\) \(\newcommand{\Sighat}{\widehat{\Sigma}}\) \(\newcommand{\lt}{<}\) \(\newcommand{\gt}{>}\) \(\newcommand{\amp}{&}\) \(\definecolor{fillinmathshade}{gray}{0.9}\)- 1: Foundations of Genetic Disorders
- Diseases versus disorders. Classifies monogenic, polygenic, and chromosomal forms and the mutation types behind them. Illustrates with PKU, Tay-Sachs, Huntington disease, Fragile X, sickle-cell anemia, hemophilia, achondroplasia, Down syndrome, Klinefelter syndrome, and Cri du chat. Stresses that single-gene changes can have large effects, links DNA variation to inheritance and diagnosis, and points to gene therapy as a developing treatment path.
- 2: DNA Structure and Sequences
- Across scales, genetics unifies particulate inheritance, DNA structure, and gene function to explain how information is stored, copied, and executed; outliers such as prions and genome size variation sharpen and constrain the framework.
- 3: DNA Profiling and Techniques
- Surveys omics technologies with emphasis on genomics and DNA analysis. Defines genomics and core sequencing approaches, including whole-genome strategies such as clone-by-clone and shotgun methods, and explains how sequence data inform gene function and regulation.
- 4: Mendelian Genetics
- A unified view that links genes and alleles to predictable inheritance through segregation and independent assortment. Practical tools and probability methods that connect genotype to phenotype, with biochemical insight and classic crosses preparing the ground for modern genetics.
- 4.1: Alleles and genes
- 4.2: Mendel’s First Law
- 4.3: Mendel and his peas
- 4.4: The law of segregation
- 4.5: The law of independent assortment
- 4.6: Relationships Between Genes, Genotypes and Phenotypes
- 4.7: Worked example - Punnett squares
- 4.8: Biochemical Basis of Dominance
- 4.9: Crossing Techniques Used in Classical Genetics
- 4.10: Probabilities in genetics
- 5: Allele and Gene Interactions
- 5.1: Phenotypes May Not Be As Expected from the Genotype
- 5.2: Co-dominance and Incomplete Dominance
- 5.3: Phenotypic Ratios May Not Be As Expected
- 5.4: Multiple alleles, incomplete dominance, and codominance
- 5.5: Pleiotropy and lethal alleles
- 5.6: Polygenic inheritance and environmental effects
- 5.7: Non-Mendelian inheritance review
- 6: Chromosomal Inheritance
- 6.1: DNA is Packaged into Chromatin
- 6.2: Mitosis
- 6.3: Meiosis
- 6.4: Karyotypes Describe Chromosome Number and Structure
- 6.5: Polyploidy Arises from Changes in Whole Sets of Chromosomes
- 6.6: Sex-Linkage- An Exception to Mendel’s First Law
- 6.7: Example punnet square for sex-linked recessive trait
- 6.8: X-linked inheritance