INTRODUCTION TO GENETICS

Learning Outcomes:
• Describe what is Genetics;
• understand the history of Genetics;
• Know the various people who contributed to
the development of Genetics;
• Identify and discuss the branches of Genetics
and;
• Develop an in-depth understanding of the
basic concepts of Genetics.
 What is GENETICS?
q the science that deals with the study of
heredity and variation
HEREDITY: transmission of traits from parent to
offspring.
VARIATION: similarities and differences

q came from the word gen, genetikos meaning

generative, and genesis meaning beginning
HISTORY OF GENETICS
 History of Genetics
• Domestication of plants & animals suggests
prehistoric peoples recognized concept of
heredity
- Traits passed from parent to offspring
• Selection of desirable traits – artificial
selection
 History of genetics
• Ancient Greeks
– Mostly bunk
• Renaissance 1600-1800
– Theories of epigenesis vs. preformation
• 1800s – turn to a more reductionist approach
– Dalton's Atomic theory
– Schwann's cell theory
 History of Genetics
• Mid 19th century (1850)
– Darwin & Wallace
• Theories of evolution
– Lamarck
• Theories on acquisition of heritable traits
– Mendel
• Theories on transmission of traits

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 Gregor Mendel
(1822-1884)
• Systematically recorded
results of crosses
• Theorized on nature of
hereditary material
• Postulate mechanism of
transfer of "ELEMENTEN"
governing traits
 History of Genetics
Pioneering work of Mendel was done in ignorance of cell division – particularly
meiosis, and the nature of genetic material – DNA

1869
Friedrich Miescher identified DNA

1900-1913
Chromosomal theory of inheritance
(Henry Sutton & Theodor Boveri)
Genes on chromosomes (Theodor H Morgan)
Genes linearly arranged on chromosomes & mapped
(Alfred H Sturtevant)
1941
George Beadle & Edward Tatum related "gene" to enzyme &
biochemical processes
1944
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Oswald Avery demonstrated that DNA was genetic material
1953
James Watson, Francis Crick,
Rosalind Franklin & Maurice
Wilkins
Lead to understanding of
mutation and relationship
between DNA and proteins at
a molecular level
1959
“Central Dogma”
DNARNAprotein

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SCIENTISTS WHO CONTRIBUTED TO GENETICS

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CHARLES DARWIN
• Idea of Natural Evolution
• Origin of Species
• Pangenesis Theory
> gemmules

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ARISTOTLE
• also contributed to
Pangenesis Theory
• gives thourough
discussion on
Gemmules

16
Gregor Johann Mendel
• Father of Modern
Genetics
• used Pisum sativum
(garden pea) in his study
• Mendelian Laws of
Inheritance
> Law of Segregation
> Law of Independent
Assortment
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Replication of Mendel’s Work by
Several Scientists

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 CARL CORRENS
• rediscovered Mendel’s
work on principles of
heredity
 HUGO DE VRIES
• rediscovered Mendel’s
principle of heredity
• discovered the
phenomenon called
mutation

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 ERICH VON TSCHERMAK
• co-discovered Mendel’s
classic paper on heredity

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JOHANN FRIEDRICH MIESCHER
• discovered that within
chromosomes, there is
WEAK ACID
• DNA as carrier of
inheritance

CHROMOSOME: strand of
DNA that carried the
genes
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WILLIAM HENRY SUTTON
• affiliated the behavior
of chromosomes to the
genes

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DISCOVERY OF DNA

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 OSWALD AVERY
q discovered
transformation

q DNA as the cell’s genetic

material

> based their work on

Frederick Griffith’s work
on “transforming
substance”
 COLIN MUNRO MACLEOD
q DNA as the cell’s genetic
material

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 MACLYN McCARTY
q DNA as the cell’s genetic
material

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 ROSALIND FRANKLIN
q gives idea that the
structure of DNA is
helical (double helix)
> X-ray diffraction of
DNA

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BRANCHES of GENETICS

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Traditionally divided into three areas:
Ø Transmission Genetics

Ø Molecular Genetics

Ø Population Genetics

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 TRANSMISSION GENETICS
q Oldest field of genetics
q explores inheritance patterns of traits as they
are passed from parents to offspring
q governed with Mendel’s pattern of heredity

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Cytogenetics
q concerned with the
study of the structure
and function of the
cell, especially of the
chromosomes.
 MOLECULAR GENETICS
q studies the structures and
function of genes at a
molecular level
q shows how the genes are
transferred from generation to
generation
q employs the method of
genetics and molecular biology
q makes use of molecular
information to determine
the patterns of descent
Genomics
q concerned with the
study of the genomes
of organisms

GENOMES: full DNA

sequence of an
organism
q determination of the
entire DNA sequence
and fine-scale genetic
mapping
34
Proteomics
q large scale study of
proteins, particularly their
structure and functions
q “proteome” -> protein and
genome; coined by Marc
Wilkins (1994)
q much more complicated
than genomics

35
 POPULATION GENETICS
q concerned with the genetic
variation and its role in
evolution
q statistical analysis of the
inheritance and prevalence of
genes in population

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Behavioral Genetics
qExamines the role of genetics in
animal (human) behavior
q often associated with “nature
vs. nurture” discussion
q traditional research strategies:
studies of twins and adoptees,
techniques designed to sort
biological from environmental
influences; behaviors
associated with inherited
disorders 37
Behavioral Genetics
Sir Francis Galton
q one of the first
behavioral geneticists
q studied the heritability
of human ability, focusing
on mental characteristics
– genius runs in families
Other Branches of Genetics
q Psychiatric Genetics
q Developmental Genetics
q Conservation Genetics
q Metagenics
q Ecological Genetics
q Evolutionary Genetics
q Medical Genetics
q Human Genetics
q Microbial Genetics
q Archaeogenetics
q Quantitative Genetics 39
CONCEPTS OF GENETICS
 Terminologies in Genetics
• Character: a heritable feature, such as flower
color
• Trait: a variant of a character, such as purple
or white flowers
• Each trait carries two copies of a unit of
inheritance, one inherited from the mother
and the other from the father
• Alternative forms of traits are called alleles

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 Terminologies in Genetics
• Phenotype – observable characteristic of an
organism
• Genotype – pair of alleles present in and
individual
• Homozygous – two alleles of trait are the
same (YY or yy)
• Heterozygous – two alleles of trait are
different (Yy)
• Capitalized traits = dominant phenotypes
• Lowercase traits= recessive phenotypes
 Terminologies in Genetics
• Generations:
– P = parental generation
– F1 = 1st filial generation, progeny of the P generation
– F2 = 2nd filial generation, progeny of the F1 generation (F3
and so on)
• Crosses:
– Monohybrid cross = cross of two different true-breeding
strains (homozygotes) that differ in a single trait.
– Dihybrid cross = cross of two different true-breeding strains
(homozygotes) that differ in two traits.
• True-bred – all offspring of same variety
• Hybridization – crossing of two different true-breeds.
 Genetic Concepts
condensed chromosome

• Chromosome
– double stranded DNA
molecule packaged by 30nm fiber
histone & scaffold proteins

nucleosome

DNA double helix

• Chromosome
 Genetic Concepts
• Chromosome numbers
– Constant for an organism
– n - haploid number
– 2n – diploid number
• Karyotype
- the appearance of the
chromosomal makeup of
a somatic cell in an
individual or species
46
Genetic Concepts

Y 47
 Genetic Concepts
• Chromosome numbers
– Each individual inherits n # of chromosomes from
dad & n # from mom
– Humans - 46 chromosomes = 2n
– Humans 23 paternal, 23 maternal
– Each maternal & paternal pair represent
homologous chromosomes - called homologs
 Genetic Concepts

1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8

9 10 11 12 13 14 15 16 9 10 11 12 13 14 15 16

17 18 19 20 21 22 XX 17 18 19 20 21 22 X

(a) Chromosomal composition found (b) Chromosomal composition

in most female human cells found in a human gamete
(46 chromosomes) (23 chromosomes)

Diploid Haploid
 Genetic Concepts
• Homologous Chromosomes
– Share centromere position
– Share overall size
– Contain identical gene sets at matching positions (loci)

gene for color

gene for shape

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 Genetic Concepts
• Gene – segment of DNA which is transcribed
into RNA
– rRNA, tRNA or mRNA
• Locus – the position on a chromosome of a
particular DNA sequence (gene)

G Locus – gene for color

W Locus – gene for shape

 Genetic Concepts
• DNA is mutable
• A variation in DNA sequence at a locus is
called an allele
– Diploid organisms contain 2 alleles of each locus
(gene)
• Alleles can be identical – homozygous
• Alleles can be different – heterozygous
• If only one allele is present – hemizygous
– Case in males for genes on X and Y chromosomes
 Genetic Concepts
Allele – G vs g; W vs w

At the G locus either the G or g allele may be present on a given

homologue of a homologous pair of chromosomes
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 Genetic Concepts
• Genome
– Collection of all genetic material of organism
• Genotype
– Set of alleles present in the genome of an organism
• Phenotype
– Result of Gene Expression
– Genes (DNA) are transcribed into RNA
– mRNA is translated into protein, tRNA & rRNA work in
translation process
– Biochemical properties of proteins, tRNAs & rRNAs
determine physical characteristics of organism

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 DNA
Gene Expression Gene

Transcription

RNA (messenger RNA)

Translation

Protein
(sequence of
amino acids)

Functioning of proteins within living

cells influences an organism’s traits.
Mutation & Phenotypic Variation

Pigmentation gene, Pigmentation gene,

dark allele light allele
Transcription
and translation

Highly functional Poorly functional

pigmentation enzyme pigmentation enzyme

Molecular level
 Mutation & Phenotypic Variation
Pigmentation gene, Pigmentation gene,
dark allele light allele
Transcription
(a) Molecular level and translation

Highly functional Poorly functional

pigmentation enzyme pigmentation enzyme

(b) Cellular level

Pigment
molecule
Wing cells

Lots of pigment made Little pigment made

 Mutation & Phenotypic Variation

Dark butterfly Light butterfly

Organismal level

Dark butterflies are usually Light butterflies are

in forested regions. usually in unforested
Populational level regions.
 Molecular Genetics
Cell
Chromosome

DNA

Nucleus

Nucleotides
16.How many
chromosomes are there?
17.How many pairs of
sex chromosomes are
present?
18.How many autosomal
chromosomes are
present?
19.What is the sex of the
individual?
20.Is the individual
normal?