Lecture 1: Intro Flashcards
What is the source of genetic/phenotype variation
Mutation
Phenotype is a result of
Complex interactions between multiple genes interacting with the environment
Pre-implantation genetic screening
Screens for genetic defects prior to embryo implantation
Luxturna
First gene therapy to treat inherited disease
Genetically modified virus that ferries a healthy gene into the eyes of patients w/retinal dystrophy
What is a Genome
A complete set of genetic instructions for any organism
Either DNA or RNA
Transmission genetics
Classical genetics, how traits are passed from one generation to the next
Molecular genetics
Gene structure, function and regulation
Population genetics
The study of genetic compositions of groups (populations) and how gene frequency changes geographically or with time
Most intensively used genetic organisms
Fruit fly (Drosophila) E. coli C. elegans Arabidopsis Mus musculus (mouse) Yeast Zebrafish
Common characteristics of model organisms
Short generation time
Numerous progeny
Ability to carry out controlled genetic crosses
Ability to be reared in a lab environment
Availability of numerous genetic variants
Accumulated body of knowledge about their genetic systems
Homeobox importance
Homeobox sequence has remained unchanged over millions of years
These genes play vital role in general organization of the body in almost all animals
First multicellular organism to have whole genome sequenced
C. elegans
Germ-plasm theory
Inheritance in a multicellular organism only takes place by means of the germ cells: the gametes, such as egg cell and sperm cells
Cell theory
All life is composed of cells, and cells arise only from cells
Mendelian inheritance
Traits are inherited in accord with defined principals
Preformationists
Believed that sperm or eggs contained fully formed humans
Blending inheritance
The (incorrect) thought that inherited traits are determined from a range bound by traits found in parents.
If you have a short and tall parent, you will be somewhere in-between or the same as one.
Lamarckianism
If organism changes during life to adapt to its environment, those changes are passed on
Giraffe example- necks stretch during life to reach food and longer necks are passed on (incorrect)
Pangenesis
Genetic information travels from different parts of the body to reproductive organs (incorrect)
(cells from brain, kidney, liver, etc.. all travel to sperm/egg and are transferred to gametes)
What is the fundamental unit of heredity
Genes
What confers phenotypes
Genes
Gene definition
Distinct sequence of nucleotides forming part of chromosome
Allele
One of two or more alternative forms of a gene that arise by mutation and are at the same place on chromosome
Chromosome
Threadlike structure of nucleic acids and protein found in the nucleus, carrying genetic information in the form of genes
