Summary an introduction to genetic analysis 11th edition griffiths 9781464109485

Summary an introduction to genetic analysis 11th edition griffiths 9781464109485 1 / 5

Summary an introduction to genetic analysis 11th edition griffiths 9781464109485 Contents Chapter 1 – The genetics revolution..........................................................................................................4 The birth of genetics..............................................................................................................................4 After cracking the code.........................................................................................................................4 Genetics today.......................................................................................................................................5 Chapter 2 – Single-gene inheritance..........................................................................................................7 Single-gene inheritance patterns............................................................................................................7 The chromosomal basis of single-gene inheritance patterns..................................................................8 The molecular basis of Mendelian inheritance patterns.........................................................................9 Some genes discovered by observing segregation ratios.....................................................................10 Sex-linked single-gene inheritance patterns........................................................................................10 Human pedigree analysis....................................................................................................................10 Chapter 3 – Independent assortment of genes.........................................................................................13 Mendel’s law of independent assortment............................................................................................13 Working with independent assortment................................................................................................14 The chromosomal basis of independent assortment............................................................................15 Polygenic inheritance..........................................................................................................................15 Organelle genes: inheritance independent of the nucleus....................................................................16 Chapter 4 – Mapping eukaryote chromosomes by recombination...........................................................17 Diagnostics of linkage.........................................................................................................................17 Mapping by recombinant frequency....................................................................................................18 Mapping with molecular markers........................................................................................................19 Centromere mapping with linear tetrads..............................................................................................20 Using the chi-square test to infer linkage............................................................................................20 Using recombinant-based maps in conjunction with physical maps....................................................20 Chapter 6 – Gene interaction...................................................................................................................21 Interactions between the alleles of a single gene: variations on dominance........................................21 Interaction of genes in pathways.........................................................................................................22 Inferring gene interactions...................................................................................................................22 Penetrance and expressivity................................................................................................................24 Chapter 8 – RNA: transcription and processing......................................................................................25 RNA....................................................................................................................................................25 Transcription.......................................................................................................................................26 Transcription in eukaryotes.................................................................................................................27 Intron removal and exon splicing........................................................................................................28 Small functional RNAs that regulate and protect the eukaryotic genome...........................................28 Chapter 10 – Gene isolation and manipulation........................................................................................30 Overview: isolating and amplifying specific gene fragments..............................................................30 Generating recombinant DNA molecules............................................................................................30 Using molecular probes to find and analyze a specific clone of interest.............................................33 Determining the base sequence of a DNA segment.............................................................................34 Aligning genetic and physical maps to isolate specific genes.............................................................34 2 / 5

Summary an introduction to genetic analysis 11th edition griffiths 9781464109485 Genetic engineering............................................................................................................................35 Chapter 12 – Regulation of Gene Expression in Eukaryotes...................................................................36 Transcriptional regulation in eukaryotes.............................................................................................36 Lessons from yeast: the GAL system..................................................................................................38 Dynamic chromatin.............................................................................................................................39 Activation of genes in a chromatin environment.................................................................................40 Long-term inactivation of genes in a chromatin environment.............................................................41 Gender-specific silencing of genes and whole chromosomes..............................................................42 Post-transcriptional gene repression by miRNAs................................................................................43 Chapter 14 – Genomes and genomics.....................................................................................................44 The genomics revolution.....................................................................................................................44 Obtaining the sequence of a genome...................................................................................................44 Bioinformatics: meaning from genomic sequence..............................................................................45 The structure of the human genome....................................................................................................47 The comparative genomics of humans with other species...................................................................47 Comparative genomics and human medicine......................................................................................48 Functional genomics and reverse genetics...........................................................................................48 Chapter 17 – Large-scale chromosomal changes.....................................................................................52 Changes in chromosome number........................................................................................................52 Changes in chromosome structure.......................................................................................................56 Overall incidence of human chromosome mutations...........................................................................59 Chapter 18 – Population genetics............................................................................................................60 Detecting genetic variation..................................................................................................................60 The gene-pool concept and the Hardy-Weinberg law.........................................................................61 Mating systems...................................................................................................................................62 Genetic variation and its measurements..............................................................................................63 The modulation of genetic variation....................................................................................................63 Biological and social applications.......................................................................................................66 Chapter 19 – The inheritance of complex traits.......................................................................................67 Measuring quantitative variation.........................................................................................................67 A simple genetic model for quantitative traits.....................................................................................68 Broad-sense heritability: nature versus nurture...................................................................................68 Narrow-sense heritability: predicting phenotypes...............................................................................69 Mapping QTL in populations with known pedigrees..........................................................................71 Association mapping in random-mating populations..........................................................................71 3 / 5

Summary an introduction to genetic analysis 11th edition griffiths 9781464109485 This summary covers the most important chapters according to our professor for exam (Uni Amsterdam 2024 genetics) Introduction to genetic analysis Chapter 1 – The genetics revolution The birth of genetics Genetics seek to understand the rules that govern the transmission of genetic information at three levels – from parent to offspring within families, from DNA to gene action within and between cells, and over generations within populations of organisms. 1800s in Europe, people sought to explain the resemblance between parents and offspring. Blending theory was common, inheritance worked like the mixing of fluids, eventually a average value of trait will be reached, so it was not right.Gregor Mendel discovered the laws of inheritance. Crossing experiments with pea plants, figure 1.3 shows the results. F1 (first generation hybrid) all had purple flowers, just like one of the parents. F2

(second generation hybrid) has a 3:1 ratio.

Mendel proposed that factors that control traits act like particles, passed along generations, today known as genes. Somatic cells are the two copies of genes that control plant color.Gametes are the sex cells (eggs and sperm). Two gene variants, alleles, one for each color. A dominant gene and a recessive gene. Mendel’s theory of inheritance published in 1866. KEY CONCEPT Mendel demonstrated that genes behave like particles and not fluids. Bateson coined the term genetics in 1905, the study of genetics.Chromosome theory of inheritance demonstrated in 1910 by Thomas Morgan, genes are located in the chromosomes. Multifactorial hypothesis, continuous traits are each controlled by multiple Mendelian genes. Genes encode enzymes, one-gene-one-enzyme hypothesis. Genes are made of deoxyribonucleic acid (DNA). Molecular structure DNA is a double helix, with the four bases adenine, thymine, guanine, cytosine.A and T bound by double hydrogen bond, G and C bound by triple hydrogen bond. Based on the complementary shapes and charges of the bases. Genes have regulatory elements that regulate gene expression, whether a gene is turned on or off. These elements are specific DNA sequences to which a regulatory protein binds and acts as either an activator or repressor of the expression of the gene. A string of DNA nucleotides, with four different bases, encodes a set of 20 different amino acids that are the building blocks of proteins. There is a messenger molecule made of ribonucleic acid (RNA) that carries information in the DNA in the nucleus to the cytoplasm where proteins are synthesized.KEY CONCEPT Geneticists learned that genes reside on chromosomes and are made of DNA. Genes encode proteins that conduct the basic enzymatic work within cells.Central dogma is a phrase that represents the flow of genetic information within cells from DNA to RNA to protein. Figure 1.10, DNA replication is the process by which a copy of the DNA is produced. Transcription is the process of RNA synthesis from a DNA template.Messenger RNA is the template for protein synthesis. Translation is protein synthesis, the translation of information in the specific sequence bases in the mRNA into the sequence of amino acids that compose a protein. Genetic code is written in 3 letter words, codons.After cracking the code A model organism is a species used in experimental biology with the presumption that what is learned from the analysis of that species will hold true for other species, especially closely related species. Small organisms that are easy and inexpensive to maintain are suitable as model, short generation time is imperative, small genome is useful, organisms that are easy to cross or mate and that produce large offspring are the best. 4 / 5