Chapter 8 - Genetics PDF

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Sistema Educativo Saint Clare Prof.

Alexandra Gamboa
Biology 10th grade I Term 2023

Chapter 8: “Mendel and Heredity”

Traits → color + shape of eyes, hair color. Height, weight…


Heredity → passing of traits from parents to offsprings.

Gregor Mendel→ Austrian monk who worked with garden peas , he was the first to developed rules
that actually predict patterns of heredity.
He repeated Knight´s experiments, but he counted numbers and analyzed the data.

Usefull features of peas:


1. many traits that have 2 clearly ≠ forms that are easy to tell apart. (Table 8-1)
2. the mating is easily controlled
3. garden pea is small, grows easily, matures quickly and produce many offspring.

Mendel observed that traits are expressed as simple ratios

Monohybrid cross→ is a cross that involves one pair of contrasting traits.


Steps of Mendel’s experiments:
1. he allowed plants to SELF-POLLINATE. Parental generation (P-generation), true breeding for
a particlar trait.
2. he cross pollinated 2 P-generation plants. Ex: purple X white→ F1 generation.
3. he allowed F1 generation to self pollinate → F2 generation.

Results:
F1 generation→ showed 1 form of the trait, the contrasting trait disappeared.
F2 generation→ the missing trait reappeared in some plants.

purple x white = 100% purple (F1)

purple x purple = F2 generation (705 purple and 243 white), 3:1 for each of the 7 traits.

705 = 3.15 and 224 =1 → ratio: 3:1


2
284 224

Mendel´s results did not support the blending hypothesis (tall x short = medium). He concluded that
each pea has two separate HEREDITARY FACTORS for each trait (one from each parent) (Fig 8-5).
Today these factors are called GENES. When the 2 gametes fuse during fertilization, the resulting
offspring has 2 factors for each trait.

Mendel´s hypothesis:

These hypotheses now make up the Mendelian Theory of Heredity, which forms the foundation of
genetics.
1. For each inherited trait an individual has 2 copies of the gene→ one from each parent.

2. There are alternative versions of genes , today they are called alleles. Figure 8-5 shows that
individuals receive one allele from each parent during reproduction.

3. When 2 different alleles occur together, one of them may be completely expressed, while the
other may have no observable effects on the organism´s appearance. Expressed trait =
dominant (purple); trait not expressed = recessive (white). (Fig 8-6)

4. When gametes are formed, the alleles for each gene in an individual separate independently of
one another. Thus, gametes carry only one allele for each inherited trait. When gametes unite
during fertilization each gamete contributes one allele. (Fig 8-5) → each parent contributes
only one of the alleles

Mendel´s findings in modern terms:

Letters are used to represent alleles → dominant = capital letter


➔ recessive = lower case

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Combinations: (Fig 8-6)

Homozygous → 2 alleles that are the same (PP, pp)-→ PUREBREED


Heterozygous → 2 ≠ alleles (Pp), dominant allele is expressed, recessive allele is present but not

expressed. --→ HYBRID

Geneotype → the set of alleles that an individual has. ( RR – Rr – rr )


Phenotype → physical appearance of a trait, it is determined by which alleles are present.

P= dominant (purple) Genotype Phenotype


p= recessive (white) PP Purple
Y= dominant (yellow) pp White
y= recessive (green) Pp Purple
YY Yellow seeds
Yy Yellow seeds
yy Green seeds

Mendel´s hypothesis brilliantly predicted the result of his crosses. Mendel´s ideas are often referred to
as Laws of Heredity.

First law → describes the behavior of chromosomes during meosis.


The law of segregation: This law states that two alleles for a trait segregate (separate) when gametes
are formed during meiosis.
Second law →he conducted dihybrid crosses ( he considered two contrasting traits) but he observed
that the inheritance of one trait did not influence the inheritance of any other trait.

Plant height X flower color


He observed that the inheritance of one trait did not influenced the inheritance of the other trait.

The law of independent assortment: This law states that the alleles of different genes separate
independently of one another during gamete formation.
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→ We know now that the units of heredity are portions of DNA called genes, which are found on the
chromosomes that an individual inherits from its parents.

One way of predicting the expected results of the genotypes or phenotypes in a cross is to use
Punnett Square, which is a diagram that predicts the expected outcome of a genetic cross by
considering all possible combinations of gametes in a cross. 10- 2 17 abril
Fig 8-9
YY x yy Possible gametes
Y Y
y Yy Yy
Y= yellow
y Yy Yy y= green
Each box = 25% Genotype : 100% Yy
Phenotype : 100% yellow

Fig 8-10 Yy x Yy

25% YY 75% yellow→ phenotype


→ Y y 50% Yy
25% yy 25% green → genotype
Y YY Yy
y Yy yy
Punnett Squares allow direct and simple predictions to be made about the outcomes of genetic
crosses.

Although animal breeders and horticulturists are not always certain what characteristics will turn up in
the offsprings, they can use the predictions from P.S to cross individuals that they know will be most
likely to produce offspring with the desired phenotype.

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Determining unknown genotypes

Breeders need to know whether an organism with a dominant genotype is homozygous or


heterozygous for a trait.
They need to perform a TEST CROSS.

They need to make 2 crosses between the organism with the unknown dominant phenotype with an
organism with homozygous recessive phenotype.
There will be two possible options :

R= red
r= white R ? x rr

#1. #2 If F1= 50% red and


RR Rr 50% white
If F1= 100% red
R R R r →the organism is
→the organism is red
r Rr Rr red
Probabilities: r Rr rr HETEROZYGOUS
r Rr Rr HOMOZYGOUS r Rr rr
Probability: is the

PROBABILITY : is the likelihood that a specific event will occur. ( can be expressed in words ,
decimals , % or fraction )
Probability calculations can be used to predict the results of genetic crosses.

# of one kind of possible outcome


P =
total # of all possible outcomes
1
Coin→ 2 probability that a coin will land on heads / tails.

1
Dice→ 6 probability that a dice will land on the #3

The same formula can be used to predict the probability of an allele to be expressed in a gamete.
Since two parents are involved in a genetic cross, both parents must be considered.

Family pedigrees can be used to study how traits are inherited


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Pedigree→ family history that shows how a trait is inherited over several generations. They are
particularly helpful if the trait is a genetic disorder and the family members want to know if they are
carriers or if their children might get the disorder.

Carriers→ are individuals who are heterozygous for an inherited disorder but do not show symptoms
of the disorder. They can pass the allele for the disorder to their young (Fig 8-13)
If a trait:
o Is autosomal→ it appears in both sexes EQUALLY.

o Is sex-linked→ it is usually seen in MALES.


 Trait whose allele is located on X chromosomes.
 Most sex-linked traits are RECESSIVE.
 Examples:RED-GREEN color blindness (D-d) or hemophilia (H-h)

Hemophilia (H-h) Daltonism (D-d)


XH XH Normal female XD X D Normal female
X H Xh Normal carrier X D Xd Normal carrier
female female
X h Xh Hemophiliac Xd Xd Daltonic female
female
XH Y Normal male XD Y Normal male
Xh Y Hemophiliac male XdY Daltonic male
➔ Sex linked diseases : recessive in the X chromosome

Autosomal trait:

▪ If it is DOMINANT every individual with the trait will have a parent with the trait (DD)
▪ If it is RECESSIVE the individual with the trait can have one, two, or neither parent with the
trait.
▪ If they are HOMOZYGOUS /HETEROZYGOUS phenotype will show it´s dominant
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characteristic.
▪ If they are HOMOZYGOUS RECESSIVE the phenotype will show the recessive characteristic.

XDXd ∙ XDYd (Heterozygous carriers of recessive mutation)


Carriers do not show the mutation.

25% XdXd children homozygous (daltonic)

POLYGENIC TRAIT: when several genes influence a trait.


The genes may be scattered along the same chromosome, or located on different chromosomes.

Examples: eye color-height-weight-skin color-hair color. All of these characteristics have degrees of
intermediate conditions between one extreme and the others. (Fig 8-14)

INTERMEDIATE TRAITS: INCOMPLETE DOMINANCE


In some organisms an organism displays a trait that is intermediate between the two parents →
incomplete dominance.

Example : Snapdragon flowers red x white flowers →pink


Neither the red nor the white allele is dominant over the other

CODOMINANCE: two dominant alleles are expressed at the same time and both traits are display.
MULTIPLE ALLELES: genes are controlled by more than 2 alleles.

ABO blood types: controlled by three alleles IA, IB, i (Fig 8-16)

Antigen Blood type Genotype Phenotype Can give blood Can recieve blood
to from
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A A IA IA / IAi A A – AB A-O
B B IB IB / IBi B B-AB B-O
A&B AB IA IB AB AB A-B-AB-O
NONE O ii O A-B-AB-O O

Universal donor: O
Universal receiver: AB

Traits influenced by the environment:

An individual´s phenotype often depends on conditions in the environment:


▪ Hydrangea plants →soil acid= blue, neutral to basic = pink.
▪ Arctic fox fur → temperature→ warm= reddish Brown, cold= white.
▪ Human →Height influenced by nutrition, skin color influenced by sun exposure, personality
influenced by aggressive behavior.
▪ Identical twins are genetically identical, so differences between them are attributed to
environmental influences.

Some traits are caused by Mutations:

Mutations: changes in genetic material.

Normal function in persons→ the genes code for proteins. Sometimes genes are damaged by
mutations that may have harmful effects.
Genetic disorders: harmful effects produced by inherited mutations. Many mutations are carried by
recessive alleles in heterozygous individuals.

Sickle cell anemia: it is an example of a recessive genetic disorder. It is caused by a mutated allele
that produces a defective form of the protein hemoglobin.

Hemophilia: another example of a recessive genetic disorder. It is a condition that impairs the
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blood´s ability to clot. It is a sex linked trait.

Huntington´s disease (HD): it is a genetic disorder caused by a dominant allele located on an


autosome.

Genetic counseling is a form of medical guidance that informs people about genetic problems that
could affect them or their offspring. One example of a genetic disorder that can be cured with therapy
is phenylketonuria (PKU)
HETERO X HETERO= Children homozygous for the recessive allele.

→(Table 8-2. Some human genetic disorders)


TABLE 8.2 some human genetic disorders
Disorder Dominant or symptom defect Frequency
recessive among human
births
Sickle cell recessive Poor blood Abnormal 1:500
anemia circulation hemoglobin (africanamericans)
molecules
Determination of
central nervous Defective

Tay-sachs recessive system in infancy; form of a 1:3.500


affected individuals brain (ashkenazi jews)
disease
die in early enzyme
childhood.
Mucus clogs many
organs, including Defective
the lungs, liver. And chloride-ion 1:2.500
recessive pancreas affected transport (whites)

Cystic individuals usually protein


do not survive to
fibrosis
adulthood.
Defective
Hemophilia A Sex-linked Failure of blood to form of a 1:10.000

classical recessive clot blood- (white males)


clotting 10
factor
Gradual
deterioration of Inhibitor of

Huntington´s dominant brain tissue in brain-cell 1:10,000


middle age; metabolism
disease
shortened life is made
expectancy

Gene technology may soon make it possible for scientist to correct certain genetic disorders by
replacing defective genes with copies of healthy ones, a technique called gene therapy.

Rh protein
Rh is an antigen protein that can be present or not in our blood.
→ + is dominant (++, +-)
→ - is recessive (--)

antigent genotype Can Can


give recive
+ Yes ++ or +- + + or -
- no -- + or - -

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