(PDF) Introduction to Genetic Analysis 9/e - South Carolina ...physics.scsu.edu/~dscott/gen/slides/slides1.pdfModern genetic analysis has two main components •Classical or Mendelian - DOCUMENTS.TIPS (2023)

Genetic

The scientific analysis of

legacy variant

Genetics: the study of inherited variation

Gregor Mendel began

the formal study of

Genetic.

In 1866 he published

your results: inherited

factors are passed

below unchanged

of a generation

to the next (without

mix or others

The change)

Genetics: the study of inherited variation

Gregor Mendel developed

methods still used

Hoy

controlled crosses with

pure breeding lines

properties tracked for

several generations

counted offspring

developed, tested

hypothesis

Includes modern genetic analysis.

two main components

Classical or Mendelian genetics Patterns of inheritance, gene transmission

Studied making controlled crosses

Genes identified by heritable phenotypic variation

Molecular genetics and biochemistry Structure, function and regulation of

Gene

Studied by manipulation, analysis of DNA, RNA and proteins

Genes identified by molecular variation

Modern genetics combines

Mendelian and molecular genetics

+ reverse genetics

Organisms are made up of cells. Each cell contains

Chromosomes Chromosomes carry genes.

The organization of living beings is based on

Cells and controlled by genes:

Living things have many different

Structures and chromosomal organizations.

DNA is a double helix:

two threads of

nucleotide

hold together

hydrogen bonds

pairing = adenine - thymine

Guanine - Cytosine

A par AT or GC = one

Basis by

The length of DNA is

measured in base pairs

pb. 1.000 pb = 1 kb

8 pb

A closer look at DNA

DNA replication: normal semi-conservative replication due to complementary pairing

Mutation replication error modifies DNA sequence

DNA replication is the

molecular basis for

chromosome replication

DNA replication

two identical daughters

chromosomes

went to the next

Generation.

The only difference

it is between daughters

due to rare mutations

Mitosis:

haploid

germ line

cells

Mitosis:

diploid

somatic

cells

germ line

Mutation:

Maybe

referred to

offspring

Somatic

Mutation:

no

referred to

offspring

DNA replication is at the core of cell reproduction.

genetic distance

estimated by

(cytochrome c)

DNS

dna ancestry

20 generations = 1,048,576 ancestors

From genes to phenotype: DNA information is used

Synthesize enzymes that catalyze

biological chemical reactions.

transcript translation

DNA-RNA-Protein

phenotype

Transcription in a eukaryote

Figure 1-5 Part 2

Gene transcription is controlled by a promoter.

RNA polymerase binding and promoter and

start transcription

open transcription promoter

promoter locked transcription

The biochemical mechanism of

transcription

Transcription in a eukaryote - RNA processing

introns are removed

The exons are spliced

Transcription and translation in a eukaryote

translation

amino acid sequence of a

The protein determines its folding.

pattern and activity

http://ureacycle.cnmcresearch.org/otc/page1/page4/page4.html

genome genome

the entire haploid genetic content of an organism

usually measured in kilobase (kb) pairs or

Megabasenpaare (mb)

human haploid genome 3,000,000 kb

encode the genome

DNA-encoding protein (< 2% of human protein)

By)

noncoding genome alles andere

DNA involved in gene regulation or not

known function (for example, introns)

Genomic structure in different organisms:

simpler organisms have relatively more coding

DNA and less non-coding DNA

13 genes / 20 kb

11 genes / 20 kb

0,8 Gen / 20 kb

0,33 Gen / 20 kb

Total coding DNA per segment

Albinism: a mutated gene

It does not work

Enzymes

prevents melanin

synthesis

causes albinism

Pigmentation is the result of two genes working correctly.

An altered gene does not change pigmentation.

Two faulty genes lead to albinism

DNA can be

gel analyzed

electrophoresis

View Genetics Links, Gel Electrophoresis Interactive Animation

List of DNS

separated through

size during

electrophoresis

DNA can be in a gel.

becomes visible by coloring

enzymes are involved

specific base 6

Serie

at 46 = 4,096

bp on average

DNA fragments can be analyzed by electrophoresis.

obtained by cutting DNA with restriction enzymes

A probe can be used to specifically detect

DNA fragments or chromosomal regions

Probes can be used to detect specific macromolecules

Figure 1-12 Part 2

Probes can be used to detect specific macromolecules

Figure 1-12 Part 3

Probes can be used to detect specific macromolecules

Figure 1-12 Part 4

The polymerase chain reaction can be used to obtain specific DNA for analysis.

Polymerase chain reaction

Polymerase Chain Reaction (PCR) - YouTube

http://www.youtube.com/watch?v=eEcy9k_KsDI&feature=plcp&context=C34ee5e0UDOEgsToPDskJByneyUaFS6PKCRKJqaTQChttp://www.youtube.com/watch?v=eEcy9k_KsDI&feature=plcp&context=C34ee5e0UDOEgsToPDskJByneyUaFS6PKCRKJqaTQhttp://www.youtube.watch= eEcy9k_KsDI&feature=plcp&context= C34ee5e0UDOEgsToPDskJByneyUaFS6PKCRKJqaTQChttp://www.youtube.com/watch?v=eEcy9k_KsDI&feature=plcp&context=C34ee5e0UDOEgsToPDskJByneyUaFS6PKCRKJqaTQC

Model organisms in genetics

Application of animal models -

human medicine and

Developmental Genetics:

human genes are often similar

those of other modern animals because humans share a common ancestor with them

animal models application

genetics of human development:

Extensive knowledge of human genes has been gained from the study of model organisms.

HOX genes regulate development, control segment identification

Examples of medical research:

Development of drugs against nematode worms

one third of the ~5,800 worm proteins are

similar to mammalian proteins

yeast cancer molecular research

38% of yeast looks like 2300 proteins

those of mammals

fruit flies

75% of known human disease genes have

Equivalents in fruit flies

The p53 gene plays a role in cell death in both

and uncontrolled growth

Genetics: studying inherited variation

Wild type the common and typical phenotype

Mutation

Rare in the population, generally harmful

Usually discrete phenotype (albinism)

Polymorphism of more than one wild type

Natural variation, common in the population

can be discreet

Easily identifiable phenotypic categories

the continuously

Unclear phenotypic categories

Types of phenotypic variation

Phenotypic variation:

Wild type vs. mutation

Manx cat:

dominant mutation

There's a

broad

fascination

with mutants

and strange

hybrids

Scientists successfully create Man-Bear-Pig

Chimera (Bear Pig) published April 1, 2008, Thinkgene.com

http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera

http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http: //www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http:// www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www. thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene. com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/ Los científicos crean con éxito una quimera humana de oso y cerdo/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-cre ate-human-bear-pig-chimera/http://www.thinkgene.com/scientists-successfully-create-human-bear-pig-chimera/

Developmental mutants: HOX genes

Phenotypic variation:

Wild-type discrete polymorphism

Other discrete polymorphisms in nature

Continuous phenotypic variation:

a common form of polymorphism

mutation, discrete

polymorphism or

ends of continuum

Variation?

Sultan Ksen

it pings

Svetlana Pankratova

8 3

2 5

Sources of phenotypic variation Genetic and non-genetic factors can have an impact

phenotypic expression

Only genes with no known environmental impact

Human examples, eye color, blood type, environment only, no known genetic effects

Sample of human language and culture Both genetic and environmental impacts

(genotype X environmental interaction)

Development of human examples

facets of the eye

(omatids)

Bristles Some fruit fly anatomy

Surroundings

play a role in this

The expression

des Wildtypauges

alleles.

eye-shaped mutants

an example for

interaction

in between

genotype and

Surroundings

Curly-Wing-Mutation bei Drosophila

The expression depends on the temperature.

while development

250C Cy mutant = curled wings

180C Cy mutant = normal wings

sickle cell anemia

The expression depends on the oxygen tension.

Sangre, hoz baja en O2

Type-II-Diabetes

usually begins in adulthood

influenced by diet, exercise

Other examples of genotype X

environmental interaction

Polypterus (pez dragon)

aquatic and

land

land breeding

altered anatomy and

facilitate behavior

terrestrial locomotion

Environmental interaction of genotype X

The expression of the genotype depends at least in part on it.

on environmental conditions

Neither the genotype nor the environment alone are

enough to explain the phenotype - both must be

known (Like longitude and latitude, both must be known

Calculate the area of ​​a rectangle)

Response norm = phenotypic range

Expression of a genotype on different

environments

reaction norm

for number of bristles:

colored differently

represent lines

various inbreeding

homocigoto

tribe

effect of

environment varies

under genotypes

The effects of the environment differ between

Genotype:

Anders

growing

environments

has different

it affects

Anders

genotype

Genotype X Environmental Interactions:

Implications for selective breeding

In all populations (plant,

animal, home, wild)

many characters: vary continuously

Several genes contribute to this.

subject to G X E

interactions

selective breeding

There is selective breeding.

albeit relatively

are extreme phenotypes

used for the next

Generation

Selective breeding was important for

Changes in native plants and animals

Demonstration of the genetic basis for variation in

specific properties

Genotype X Environmental Interactions:

Implications for selective breeding

Phenotypic variation is the basis of

selective breeding

Genetic variation is the basis of success

selective breeding

selective breeding on

several generations

can change the phenotype

distribution of a

Population

selective breeding

Genotype X Environmental Interactions:

Implications for selective breeding

genetic variation

determines the reaction to it

selective breeding:

Traits with higher genetics

Variations keep evolving

fast low selective

to create

deviation due to

environmental factors

do not respond to selection

Reply to selective

breeding test

presence of genetics

Variation

Selective breeding can produce spectacular results

Changes over many generations:

Flight speed of fruit flies in the wind tunnel

Heritable traits may respond to selection in

increasing or decreasing direction

expression of ownership

domestic dogs arose

with a wild species

keep something

significant resemblance

to the ancestors

species

Selective breeding has

produce something extreme

varieties of domestic

Animals and plants.

Voluntary wheelwalking in mice:

selective breeding can

genetic component of behavior

the maze is running

Ability in rats: a

cognitive trait that

can be changed by

Selection

Rearing conditions change the phenotypes of

Selected Maze Bright and Maze Dull lines

rearing conditions

Restricted Normal Enriched

No

megabyte

Es

Von

Miss

you accept

80

100

120

140

160

180

Hell

Bored

Heritability of Phenotypic Variation

Heritability is the ratio of phenotypic

Variation in a population that is responsible

to the genes

Only genes without environmental impact

Trait inheritance is 100% = 1.0

Environment only without genetic effects

Trait heritability = 0

Genetic and environmental effects.

Heritability > 0 and < 1.0

Higher heritability = higher probability of a

the phenotype is faithfully transmitted,

increased response to selective breeding

the heritability is

often voiced

as area u

can differentiate

widely for

different properties

Summary

Agricultural plants, animals and laboratory.

Model organisms react to this selectively.

To create:

Response is repeatable, can be extended

many generations and can lead to a distant phenotype

outside the normal fluctuation range

Many complex traits respond to selectivity.

To create:

Anatomical, physiological, behavior

Genetic variation contributes to the variation of

expression of complex features

Heritability is a measure of how much

Variation in a population is due to genes.

Human heredity: comparisons of

identical (MZ) and dizygotic (DZ) twins

The MZ twins broke up

Genetically identical, bred differently

environments

Greater resemblance between members of the

Pairs = higher heritability

DZ and MZ twins bred in biological families

The parenting environment is the same for both

members of all couples

Greater similarity between MZ pairs than DZ

= higher heritability

Measurements on separately reared identical twins allow estimates of the heritability of human traits:

Correlation between members of the twin pair in many pairs provides the heritability of the trait.

Number of fingerprints 0.97

Height 0.85

CI 0,5 - 0,7

School performance 0.40

good memory 0.20

Heritability of some common traits

IQ inheritance is altered by

Environmental factors: (based on MZ-DZ biological family comparisons)

median income +

Healthy diet 0.74

Poverty (<$10,000/year)

nutrition, various

marginal health 0.39

Achievement (work hard, strive

per championship) 0.38

social closeness (intimacy) 0.15

Reaction to stress (neuroticism) 0.48

Aggression 0.67

Absorption (imagination) 0.74

Human personality traits show a

inheritance area

Summary

Genes do not determine the phenotype.

but set limits to the variation of the reaction norm

High heritability tighter limits

Wider boundaries of low heritability

Individuals can be strong or weak.

Predisposition to certain phenotypes. The environment plays a role in most features.

Human Microbiome - Environment

affects many physiological characteristics