GENETICS

PATTERNS OF GENETIC INHERITANCE

Genetic Terminology
Trait - any characteristic that can be passed from parent to offspring
Heredity- passing of traits from parent to offspring
Genetics study of heredity
I. Human pattern of Inheritance
A. Complete Dominance D. Sex-related
B. Incomplete Dominance E. Polygenic
C. Co-Dominance F. Pleiotropy
G. Gregor Mendel (1822-1884)
Responsible for the Laws of Governing Inheritance of Traits
Austrian monk
Studied the inheritance of traits in about 28,000 pea plants
He found that the plants offspring retained traits of the parents
Developed tha laws of inheritance
Mendels work was not recognized until the turn of the 20 th Century
H. Why the pea plant?
Easy to grow and mature quickly
Have a short generation time
Self-pollinate
Easy to control reproduction
Produce many offsprings
I. How did he perform the first
experiments?
To begin the experiments, Mendel used plants
that showed the same trait generation by
generation, also called pure lines.
Mendel examined seven different traits. Each
trait had only two possible variations
J.
Alleles- two forms of a gene (dominant and
recessive)
K.
Dominant- stronger of two genes expressed in
the hybrid; represented by a capital letter (R)
L.
Recessive- gene that shows up less often in a
cross; represented by a lowercase (r)
M.
N. Types of Genetic Crosses
Monohybrid cross- cross
involving a single trait e.g. flower
Dihybrid cross- cross involving two
traits e.g. flower color and plant
height
O. Mendels Factors
Mendel stated that physical traits
are inherited as particles,
which are actually genes.
A gene can occur in alternate
variations called alleles
P.
Q.
R.
 S.
T.
U.
V. Dominant or Recessive?
When two different alleles are present for one trait, one is expressed
(dominant) while the other is not (recessive)
Genotype
o A homozygous has two copies of the same allele (dominant or
recessive), e.g. RR or rr; also called pure. A heterozygous organism has
one of each type of allele at the gene locus, one dominant and one
recessive allele (e.g. Rr); also called hybrid
W. More Terminology
Genotype gene combination for a trait (e.g. RR, Rr, rr)
Phenotype- the physical feature resulting from a genotype (e.g. red, white)
X. Genotype and Phenotype in Flowers
Y. Genotype of alleles:
Z. R= Red Flower r= yellow flower
AA. All genes occur in pairs, so 2 alleles affect a characteristic
AB. Possible combinations are:
AC. Genotypes RR Rr rr
AD. Phenotypes Red Red Yellow
AE.
AF. First Law: Principle of Dominance
In a cross of parents that are pure for contrasting traits , only one form of
the trait will appear in the next generation
All the offspring will be heterozygous and express only the dominant trait
RR x rr yields all Rr (round seeds)
AG. Second Law: Principle of Segregation
AH. During the formation of gametes (eggs or sperm), the two alleles
responsible for the trait separate from each other
AI. Alleles for a trait are then recombined at fertilization, producing the
genotype for the traits of the offspring
AJ. Third Law: Principle of Independent
Assortment
AK. Alleles for different traits ae
distributed to sex cells (and offspring)
independently of one another
AL.This law could be illustrated using
dihybrid Crosses
AM. Dihybrid Cross
AN. Traits: seed shape and seed color
AO. Alleles: R round
AP. r wrinkled
AQ. Y yellow
AR. y green
AS. RrYy (RY, Ry, rY, ry) x RrYy (RY, Ry, rY, ry possible gamete
combinations
AT.Dihybrid Cross
A breeding experiment
that tracks the inheritance
of two traits.
Mendels Principle of
Assortment
a. Each pair of alleles
segregates
independently during
gamete formation
 b. Formula: 2n *n is raise to (n= # of heterozygotes)
AU. F2 Cross or Testcross to determine unknown genotype
AV. A test cross is a mating between: An individual of dominant phenotype
(but unknown genotype) and A homozygous recessive individual
AW.
AX.
AY. Punnett Square- used to
help solve genetic problems
AZ. Non-Mendelian genetics
A. Incomplete Dominance
B. Co- dominance
C. Sex-related
D. Polygenic
E. Pleiotropy
BA.
A. Complete Dominance
Traits inherited are either
dominant or recessive Ex.
BB, Bb, bb
B. Incomplete Dominance
In this patter, neither allele is considered recessive
Heterozygous conditions produce a blend of the two
traits creating a third phenotype
Traits inherited show a new penotype that is blending
or mixing of parental alleles
Heterozygous results in a blending of two alleles
Use 2 different Capital letters to represent (neither
allele is Dominant or recessive)
C. Co-Dominance
In this pattern much like incomplete dominance, neither allele is
considered recessive
Trait inherited shows a new phenotype that EXPRESSES BOTH parental
alleles. HETEROZYGOUS condition results in the expression of both
alleles
Use 2 different capital letters to represent
D. Sex-Related Inheritance
Two types of chromosomes in the cells of organisms:
1. Autosomes- chromosomes that typically carry genetic information
used by organism for characteristics other than the primary
determination of sex
2. Sex chromosomes- pair of chromosomes that determine the sex of
an organism
Sex-linked traits
1. X-linked Traits: traits determined by genes residing on the X sex
chromosome. E.g. x-linked Dystonia parkinsonism (XDP) or Lubag
(adult filipino men from Panay)
2. Y-linked traits: traits determined by genes residing in the Y sex
chromosome e.g. hypertrichosis
Sex linked Traits- traits are controlled by genes on the X or Y
chromosomes
a. _X linked traits can be passed on to males and females
b. _Y linked traits can only be passed to males
Sex Linked Traits
o Affect the X chromosome
 o Females tend to be carriers and pass
on the trait to their sons- XtY (t is
raised to)
o Females can be affected but Both X
chromosomes must have the gene for
the trait- XtXt
o Color-blindness: X-linked recessive trait
o X-linked Traits: Hemophilia
Female Carriers
o In a sex-linked trait (like hemophilia),
women are carriers, and men have the
phenotype more often
Sex-linked (Y-Linked) Trait
o Hypertrichosis Human werewolf
syndrome
o Congenital generalized hypertrychosis
(CGH). Rare, X-linked dominant trait found in a single
multigenerational Mexican Family
Sex-limited traits: some traits that are not sex-linked but two sexes
express these traits in different ways; determined by autosomal genes
found in both sexes but trait is manifested in one sex due to
physiological and anatomical reasons. E.g. bulls and cows carry genes
for good milk production but bulls dont manifest due to absence of
mammary glands
Sex-influenced traits; autosomal genes whose expression of dominance
in influenced by the sex of the bearer.
E.g. pattern baldness in humans
BB. Mendels Laws apply to
humans
BC. Genetic pedigrees can reveal
the pattern of inheritance
BD. Genetic Disorders
BE. Autosomal disorders can be
detected early on.
BF. Amniocentesis embryonic test and
egg test can be used to detect genetic disorders
BG.
E. Polygenic Traits
Traits are controlled by multiple gene pairs
1. Genes may be on same or different chromosomes
2. Expressed trait varies greatly. Ex. Hair color, eye and skin colors,
height and weight
F. Pleiotropy
one gene influencing many characteristics
the gene for sickle cell disease
o affects the type f hemoglobin produced
o affects the shape of red blood cells
o causes anemia
o causes organ damage
o is related to susceptibility to malaria
Sickle cell Anemia
o Autosomal recessive blood disorder characterized by red blood cells
that assume an abnormal, sickle shape
BH.
BI. ITS IN THE GENES
BJ. Importance of Proteins
Without proteins, there would be no life
 All cells make proteins
Proteins in your body make up your:
1. Hair 4. Skin
2. Nails 5. Cartilage
3. Muscles 6.
There are three main kinds:
o Structural: make up most body parts
o Hormonic: chemical that controls the body
o Enzyme: catalyst or speeds up chemical reactions
7. How are proteins produced? ITS IN THE GENES
8. DNA Replication, transcription and translation
9.
10. Introduction
DNA info is in the form of specific sequences of bases along the DNA strands
The DNA leads to specific traits by dictating the synthesis of proteins
Proteins are the links between genotype and phenotype
11. GENES
The gene is the basic physical and functional unit of heredity
it consists of a specific sequence of nucleotides at a given position on a given
chromosome that codes for a specific protein (or, in some cases, an RNA
molecule)
Genes consist of 3 types of nucleotide sequence
o Coding regions called exons, which specify a sequence of amino acids
o Non-coding regions called introns, which do not specify amino acids
o Regulatory sequences, which play a role in determining when and
where the protein is made (and
how much is made)
o A human being has 20,000 to
25,000 genes located on 46
chromosomes (23 pairs). These
genes are known collectively as
the human genome
only 1.1-1.5% of the approximately 3 billion base pairs in human DNA actually
code for proteins. These meaningful code sequences are called exons
the remaining 98+% of our DNA base pairs were in the past thought to
consist merely of genetic junk
however, it is now becoming clear that atleast a quarter and probably much
more of this junk actually hhas important functions. These non-protein
coding sections are refereed to as introns.
Some of the introns act as:
o Enhancers or supressors of genes
o Others help determine the shape of chromosomes
o They also buffer agsint change by absorbing the mutagenic effect of
radiation and viruses
12. DNA Structure
13.Nucleotide building block of DNA
14.Three parts: Deoxyribose Sugar, Phosphate Group,
Nitrogen Base
15. Nitrogenous Bases
16.There are two classes of bases:
1. Purines: Adenine and Guanine (2 rings)
17. Paired with
2. Pyrimidines: Thymine and Cytosine (1 ring)
18. DNA is a Polynucleotide
19.Many nucleotides are pieced together to make a
DNA molecule
20. Structure of the DNA Molecule
DNA is shaped like a double helix
It is like a spiral staircase
Another way to think of it is a twisted ladder
21. Connecting the DNA molecule
Rails of the DNA ladder are alternating sugar and
phosphates
Rings are composed of pairs of bases
o Adenine bonds with Thymine
o Guanine bonds with Cytosine
22. The Double Helix
DNA consists of two polynucleotide chains wound around each other to form
a double helix
Structure inferred from Rosalind Franklins famous X-ray crystallography
23.The two chains are held together by complementary base pairing
24.Specific bonding between A and T bases and between G and C bases on
the two strands
Inferred from Erwin Chargaffs research.
Chargaffs Rules state that in any organisms genome the
amount of A=T and the amount of C=G
25. Complementary Base Pairing
26.The two DNA chains are held together by hydrogen
bonds between nitrogen bases
27.The two strands run in opposite directions,or are anti-
parallel
28. The Cental Dogma of Molecular Biology
29.
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32.
33.
34.Describes the flow of genetic information form DNA to RNA proteins
DNA Replication- must occur before a cell can divide
Gene Expression
o Transcription o Translation
o I.DNA REPLICATION
DNA Replication is semi-conservative
 Each newly synthesized
molecule contains 1
parent template
o Step 1:
Initiation
Preparing the
DNA template
1. Helicase enzyme
unwinds DNA forming a
replication fork
Multiple
replication forks
along a DNA
molecule create
replication
bubbles
o Step 2:
Elongation
Adding New Nucleotides
o DNA polymerase can only add new nucleotides in the 5 to 3
directions.
o Because of the anti-parallel nature
of DNA, replication occurs in two
different directions
o The Lagging Strand
o An RNA primer is lid down on the
other strand, and new nucleotides
are added 5 to 3 moving away
from the replication fork. This is the
lagging strand and the segment of
DNA produced is called an Okazaki
Fragment
o Summary and Other Facts
o Leading Strand: 1 Primer, 5 to 3 continuous
o Lagging Strand: multiple primers 5
to 3 discontinuous. In humans,
DNA polymerase adds 50
nucleotides/second
o
o II.TRANSCRIPTION
The information constituting an
organisms genotype is carried in its sequence of bases
The DNA is transcribed into RNA, which is
translated into the polypeptide
Transcription produces genetic messages in the
form of mRNA
RNA is also a nucleic acid
o Different sugar (ribose)
o Uracil instead of Thymine
o Single strand, usually
o DNA and RNA compared
DNA
o Found only in nucleus
o Double stranded helix
o Bases= ATGC
o Sugar= Deoxyribose
RNA
 o Found in ribosomes, nucleolus
o Single stranded helix
o Bases AUGC (Uracil)
o Sugar= Ribose
o Ribonucleic Acid (RNA)
Messenger RNA
o
o III.TRANSLATION
The language of nucleic acids in translated into the
language of proteins
Nucleic acids have a 4 letter language
 Proteins have a 20 letter
language
o The Players
1. Messenger 2. Transfer RNA
RNA (tRNA)
(mRNA) 3. Ribosomes or
ribosomal RNA
4. Amino Acids
1. Messenger RNA (mRNA)
Synthesized in transcription
Composed of codons
Codons are 3 base sequences of mRNA
5.
6.
7.
8.
9. The Genetic Code (Codon Table)
10.If 3 RNA bases code for 1 amino acid, RNA
could code for ? 64 amino acids. More than
enough coding capacity for 20 amino acids.
11.Code is redundant for most amino acids;
first 2 bases are important
12.Start Codon: AUG met
13.Stop Codon: UAA,UAG, UGA
14.
2. Transfer RNA (tRNA)
Carries amino acid to the ribosome
3 base antiodon pairs with the mRNA codon
During tRNA changing, each tRNA picks up
amino acid from the cytoplasm
Transfer RNA molecules serve as interpreters during
translation
o In the cyroplasm, a ribosome attaches to the mRNA
and translates its message into a
polypeptide
o Thee process is aided by transfer RNAs
Each tRNA molecule has a triplet anticodon on one end
and and amino acid attachment site on the other
3. Ribosomes
Made of rRNA and protein
2 subunits (large and small) from a 3D groove
2 major sites:
o P site- holds the growing polypeptide
o A site- new amino acids enter here
4. Amino Acids
There are 20 amino acids, each with a basic
structure
Amino acids are held together by peptide bonds
15.
16. Translation
3 STEPS
o Intiation
o Elongation
o Termination
17. Step 1: Initiation
5 G-cap of mRNA binds in to
ribosome
Start codon AUG and anticodon
with Methionine bind a P-site
A site is open and ready to receive
new tRNAs
An initiation codon mars the start
of an mRNA message
18. Step 2: Elongation (Adding New Amino acids)
Codon recognition
Peptide bond formation
Translocation: ribosome moves along mRNA, aminoacyl
tRNA shifts from A site to P site
19. Step 3: Termination
A stop codon is reached (UAA, UAG, UGA)
All Parts release
20.

Translation
9 bases would give 3 amino
acids
27 bases would give 7 amino
acids
21. Translation Plyeptides
and Mutation
22.Normally, the genetic code is translated and the correct protein is formed
from a long chain of amino acids
23.Translation of codons is dependent on the reading frame or a grouping of
codons in a gene transcript
24.
25. Sickle cell Anemia
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Deletion or insertion of mutations are most disruptive because they change
the reading frame, causing a frame shift
Substitution mutations have varied impact on amino acid sequences
Substitutions og 1st or 2nd base in codon almost always changes the amino
acid
Substituion of 3rd base in codon does not always change the amino acid
36. What causes mutation?
Errors in DNA replication
Errors in chromosome crossover in meiosis
Mutagens
o Are physical or chemical factors that cause mutaition. E.g. UV
Radiation, X-Rays, Chemicals like DDT
Many mutations are harmful and cause the organism to die or function
incorrectly.
Mutations that result in helping organism to survive are beneficial
If mutations are present in gametes, they can be passed on to the offspring
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