Genetics 315 Exam 1 Study Guide Fall 2015

What are Mendel's 3 main points he contributed to genetics?

1. Demonstrated traits are passed from parent to offspring in
predictable ways
2. Each trait is controlled by
pair of genes
(unit factors)
3. Gene pairs separate from each other during gamete formation

The branch of biology concerned with the study of
heredity and variation

Genetics

A condition in which each chromosome
exists in pairs
having two of each chromosome

Diploid (2n)

Members of each species have a characteristic number of chromosomes

Diploid number

Cell or an organism having
one member of each pair of homologous chromosomes.
Also referred to as the
gametic chromosome number.

Haploid (n)

What is the diploid number for humans?

46

Order of display

Karyotype

These individuals noted genes and chromosomes have similar properties and behaviors; linking the observed behavior of chromosomes to Mendel's postulates for inheritance
- both exist in pairs
-Members of the pair segregate during gamete formation
as well a

Sutton & Boveri

Inherited traits are controlled by genes residing on chromosomes faithfully transmitted through gametes, maintaining genetic continuity from generation to generation.

Chromosome theory of inheritance

Any heritable change and the source of all genetic variation.

Mutation

Alternative forms of a gene

Allele

Fundamental term
Observable features of an organism (visible result)

Phenotype

Fundamental term
The set of alleles for a given gene carried by an organism

Genotype

Passed on one generation to the next

Heritable

These individuals performed the key experiment showing DNA was genetic material
bacteriophage
(not protein) as well as conducting a
key historical experiment in genetics
in 1944

Avery, MacCloud & McCarty

What structure does DNA form?

double helix structure

DNA is mad e of
2 strands
composed of?

Nucleotides

DNA consists of four nucleotides with one of four nitrogenous bases

A, T, G, C

In DNA nitrogenous bases
A & T
compose what amino acid?

sugar
deoxyribose

In DNA nitrogenous bases
C & G
produce what amino acid?

Nucleotide

In DNA nitrogenous bases
G & C
produce what amino acid?

Phosphate

Complementary base pairs
T & A
in DNA produce?

Thymine-adenine

Nucleotide complementary is the basis for

gene expression; which
complementarity is the key to these processes

Transcription =

DNA > RNA

Translation =

mRNA > protein

The deoxynucleotide triplets that encode the 20 amino acids or specify termination of translation

Genetic code

Were key discovery for development of recombinant DNA techniques

Restriction enzymes

What do enzymes serve as?

Biological catalysts

Protein's structure and function ultimately derived from

genetic code in DNA

Set of techniques used to make a large number of copies of DNA sequences

DNA cloning

Cloning allows for what to be obtained?

large quantities of specific DNA

The complete haploid content of DNA specific to an organism

Genome

The used of genetically modified organisms or their products

Biotechnology

An organism whose genome has been modified by the
introduction of external DNA sequences into the germ line

Transgenic animals

The study of genomes. Involves sequencing genomes and studying the structure, function and evolution of genes and genomes

Genomics

Examines the set of proteins in a cell under a given set of conditions.
- Also modifications, location, interactions

Proteomics

A subfield of information technology that deals with the massive amounts of data within genomics and proteomics

Bioinformatics

Most common used model organisms:

-
E.coli
-
yeast
-
Drosophila
-
C. elegans
-
mouse
-
zebrafish
-
Arabidopsis thaliana

Why do geneticists use these models?

The genetic mechanisms are often the same or similar in humans or human diseases

What properties make for a good model organism?

-
Easy to breed
-
Short life cycle
-
Straightforward genetic analysis
-
Produce large numbers of offspring

Two processes involved in
maintaining genetic continuity

Mitosis & Meiosis

Results in the production of two cells, each with the
same number of chromosomes as the parent cell

Mitosis

Reduces the genetic content
and the chromosome number precisely in half. Results in the production of sex cells, called gametes or spores

Meiosis

In these organisms genetic information found in
single, long circular DNA molecule
found in enclosed region called nucleoid

Prokaryotes

DNA in these organisms are not compacted

Prokaryotes

These organisms are not associated with proteins to the extent as eukaryotes

Prokaryotes

No distinct nucleolus

Prokaryotes

Constricted region with a chromosome

Centromere

Shorter arm of chromosome (petite)

p arm

Longer arm of chromosome

q arm

Chromosomes exist in pairs, the members of each pair are referred to as

Homologous chromosomes

Number of chromosomes equal to one half the diploid number

Haploid number (n)

How are homologous chromosomes identical?

position of genes

The site or place on a chromosome where a particular gene is located

Locus (loci)

Inheritance from 2 parents

Biparental inheritance

These organisms have 2 copies of every gene

Diploid organisms

What are the roles of mitosis?

- replacement of cells
- production of new cells
- asexual reproduction in single celled organisms

In single celled organisms, mitosis provides mechanism for

asexual reproduction

Single celled fertilized eggs of diploid organisms. Undergo development into multicellular organisms through mitotic division

Zygotes

Basis for
wound healing, replacement of lost cells

Mitosis

The process of
nuclear division
whereby the genetic material is partitioned into daughter cells

Karyokinesis

Cell division

Cytokinesis

The initial stage of the cell cycle, includes the interval between divisions

Interphase

Synthesis of DNA occurs prior to cell entering mitosis

S phase

Chromosomes are extended and uncoiled forming chromatids

Interphase

Periods of metabolic activity, growth and differentiation

G1 & G2
gapI and gapII

Mitosis averages how long?

1 hour and short period of the entire cell cycle

Chromosomes coil up and condense centrioles divide and move apart

Prophase

- Migration of pair of centrioles to opposite ends of cell
- Nuclear envelope breaks down
- Nucleolus disintegrates
- Chromatin
condenses

Mitosis
Prophase

The two genetically identical parts of each chromosome formed from single replicative event during
S phase

Sister chromatids

Chromosomes migrate to equatorial plane

Mitosis
Prometaphase & Metaphase

Period of chromosome movement

Prometaphase

Chromosomes aligned along metaphase plate

Metaphase

Multilayered plates of proteins associated with centromere

Kinetochore

Chromosomes are clearly double structures; centrioles reach the opposite poles; spindle fibers form

Prometaphase

Centromeres align on metaphase plate

Metaphase

Enzyme that degrades

...