Chapter 11

Section 1: The Work of Gregor Mendel

 Heredity is the delivery of characteristics from parents to offspring.

 Genetics: the scientific study of heredity.

 Gregor Mendel is the father of genetics.

 Mendel carried out his work with ordinary garden peas.

 Today we call peas the “model system” because they are small, easy to
grow, and they produce large numbers of offspring.

 Fertilization is the process in which reproductive cells (egg from the female and
sperm from the male) join to produce a new cell.

 Pea plants are true-breeding or self-pollinating which means the sperm fertilizes the egg of the
same plant. In self-pollination, the offspring are identical to their parent since they have only
one parent.

 A trait is a specific characteristic; such as seed color or plant height.

 Mendel wanted to control fertilization so he could study how traits passed from one generation
to the next. So, he prevented self-pollination in the peas. He decided to remove the male parts
from one flower and dusting their pollen (containing sperm) onto the female parts of another
flower by a process known as cross-pollination.

In cross-pollination:

 The offspring are not identical to their parents.

 Each original plant was called the P generation (parental generation)
  The offspring were called the F1 generation (first filial generation)
 The offspring of true-breeding parents with different traits are called hybrids
(in other words, the F1 generation)
 Each offspring showed the trait of only one parent and the trait of the other parent would
disappear.

Mendel’s discoveries after performing the cross-pollination of pea plants:

 Mendel found that traits are controlled by factors that pass from parent to
offspring. Those factors are genes. The different forms of a gene are alleles.

 Mendel’s other conclusion is called the “principle of dominance” which states

that some alleles are dominant and others are recessive. The recessive allele is
exhibited only when the dominant allele is not present.

F1 Cross:

Mendel allowed members of the F1 generation to self-pollinate in a cross we call F1 cross. The result
was:

The trait controlled by the recessive allele

appeared in the next generation (F2) in about one-
fourth of the offspring— even when it did not
appear in the F1 generation. This is due to
segregation.

Mendel assumed that the dominant allele is tall

and the recessive allele was short, that’s why all F1
appeared tall.

However, all F1 carried the short trait but it was

masked by the tall trait.

During gamete (sex cells) formation, the alleles for each

gene segregate from each other, so that each gamete
carries only one allele for each gene.

Thus, each F1 plant produces two kinds of gametes—

those with the tall allele and those with the short allele.
  Segregation: is the separation of alleles during formation of gametes. The result is that each
gametes carries only one allele for each gene.

 Thus, the F2 generation gets a new combination of alleles (one from each parent):
- Homozygous dominant
- Heterozygous dominant
- Homozygous recessive.

Example of Segregation:

TT tt

Tall Short

T T t t

Tt Tt Tt Tt
Homozygous or pure: organisms that have two identical alleles for a given trait.
Heterozygous or hybrid: Organisms that have different alleles for the same gene.

Phenotype: Physical traits/ appearance of and organism. Ex. Blue color, white color

Genotype: genetic makeup consisting of alleles of an organism. Ex: BB, Bb

Monohybrid cross: is a cross between two organisms with different alleles at one genetic locus of
interest.

Dihybrid cross: Is a genetic cross between parents that differ in two characteristics, controlled by genes
at different loci.

Dominant allele: an allele that has the same effect on phenotype whether it is present in the
homozygous or heterozygous state.

Recessive allele: an allele that has an effect on phenotype only when it is present in the homozygous
state.

Carrier: an individual that has a recessive allele of a gene that does not have an effect on their
phenotype

Locus: the particular position of a gene on homologous chromosomes

Punnett square is a mathematical tool that helps predict combinations in genetic crosses.

 When writing genotypes, a capital letter represents a dominant allele and a lowercase letter
represents a recessive allele.
 Dominant can be homozygous or heterozygous.
 Recessive is always heterozygous.
 Phenotype always determines genotype.
Example of a cross:

 Test Cross / Backcross:

–Cross done to find the genotype of an organism.

–Cross the unknown with a homozygous recessive.

-If the progeny produced were 100% carrying the dominant allele, then the parent was homozygous
dominant.

- If the progeny produced were 50% carrying the dominant allele and 50% carrying the recessive allele,
then the parent was heterozygous dominant.
Section 11.2 Probability & Punnett Square:

 Probability: is the likelihood that a particular event will occur.

Probability predicts the recombination of alleles:

 Of an allele pair, the probability of each allele in a gamete is

½, or 50 percent.

 When F1 hybrid individuals are crossed, the probability of:

o two recessive alleles is ¼.

o two dominant alleles is ¼.
o one dominant allele and one recessive allele is ½ (¼ + ¼).

 Punnett square: is a mathematical tool that helps predict combinations in genetic crosses. It
helps predict the genotype and phenotype combinations in genetic crosses.

 Going Back to Mendel’s F1 monohybrid cross to confirm the results using Punnett square:

Phenotype: Tall x Tall

Genotype: Tt x Tt

Gametes: T ½ t½ T ½t½
 Male T 1/2 t 1/2

Female

T 1/2 TT 1/4 Tt 1/4

t 1/2 Tt 1/4 Tt 1/4

Results:

Genotypes: Phenotypes:

TT ¼ dominant homozygous Tall 3/4 dominant

Tt ½ dominant heterozygous Short ¼ recessive Ratio= 3:1

Tt ¼ homozygous recessive

Result confirmed!

A Summary of Mendel’s Principles

(applied mainly on humans)

► Genes are passed on from parents and determine traits.
► Law of Dominance: Where two or more alleles for a gene exist, some may be dominant and
others recessive.
► Law of Segregation: In sexually reproducing organisms, offspring
receive a copy of each gene from each parent. The alleles segregate
when forming gametes.
► Law of independent Assortment: Alleles for different genes usually segregate independently
during the formation of gametes.

Exercises:

1. In cats, long hair is recessive to short hair. A true-breeding (homozygous) short-haired male is
mated to a long-haired female. What will their kittens look like?

2. Two cats are mated. One of the parent cats is long-haired (recessive allele). The litter which
results contains two short-haired and three long-haired kittens. What does the second parent
look like, and what is its genotype?
 3. Mrs. And Mr. Smith both have widow’s peaks (dominant). Their first child also has a widow’s
peak, but their second child doesn’t. Mr. Smith accuses Mrs. Smith of being unfaithful to him.
Is he necessarily justified? Why or why not? Work the Punette’s problem predicting the
frequencies of the versions of this trait among their prospective children.

4. Mr. and Mrs. Jones have six children. Three of them have attached earlobes (recessive) like
their father, and the other three have free earlobes like their mother. What are the genotypes
of Mr. and Mrs. Jones and of their numerous offspring?

5. Mr. and Mrs. Anderson both have tightly curled hair. (The hair form gene shows incomplete
dominance. There are two alleles, curly and straight. The heterozygote has wavy hair.) The
Andersons have a child with wavy hair. Mr. Anderson accuses Mrs. Anderson of being
unfaithful to him. Is he necessarily justified? Why or why not?

6. Basic body color for horses is influenced by several genes, on of which has several different
alleles. Two of these alleles—the chestnut (dark brown) allele and a diluting (pale cream)
allele (often incorrectly called ‘albino’)—display incomplete dominance. A horse heterozygous
for these two alleles is a palomino (golden body color with flaxen mane and tail). Is it possible
to produce a herd of pure-breeding palomino horses? Why or why not? Work the Punnett’s
square for mating a palomino to a palomino and predict the phenotypic ratio among their
offspring.

7. In Border Collies, black coat (B) is dominant to red coat (b).  A breeder has a black male that
has won numerous awards.  The breeder would like to use the dog for breeding if he is
purebred or BB.  To learn this information, she crosses him with a red female (bb).  Answer
the following questions A, B, C, and D.

A. If the black male is BB, what kind of gamete (sperm) can he produce?
B. If the red female is bb, what kind of gamete (eggs) can she produce?
C. If the black male is Bb, what kind(s) of gametes (sperm) can he produce?
D. If any of the puppies are red, what is the father's genotype?
E. What kind of cross was applied in this exercise?

8. What are the laws demonstrated in Mendel’s experiment?

 Section 11.3 Some exceptions to Mendel’s principles:

 Some alleles are neither dominant nor recessive.

 Many genes exist in several different forms, and are therefore said to have multiple alleles.
 Many traits are produced by the interaction of several genes.
  Many important traits are controlled by more than one gene. Mendel’s principles alone cannot
predict traits that are controlled by multiple alleles or multiple genes.
 Incomplete Dominance
 A cross between two four o’clock plants shows a common exception to Mendel’s principles.
 The F1 generation produced by a cross between red-flowered (RR) and white-flowered
(WW) plants consists of pink-colored flowers (RW), as shown with a percentage 100%
 In this case, neither allele is dominant. Cases in which one allele is not completely dominant
over another are called incomplete dominance.
 In incomplete dominance, the heterozygous phenotype lies
somewhere between the two homozygous phenotypes.
 Both alleles are symbolized by a capital letter

Example: In snapdragons, flower color is controlled by incomplete

dominance. The two alleles are red (R) and white (R’). The heterozygous
genotype is expressed as pink.

What is the phenotype of a plant with the genotype RR?

RED

b. What is the phenotype of a plant with the genotype R’R’?

WHITE

c. What is the phenotype of a plant with the genotype RR’?

PINK

6. A pink-flowered plant is crossed with a white-flowered plant.

What is the probability of producing a pink-flowered plant?

R 50% R’ 50%
R 50% RR 25% RR’ 25%
R’ 50% RR’ 25% R’R’ 25%
50% RR’

7. What cross will produce the most pink-flowered plants? Show a punnett square to support your
answer.

R 50% R 50%
R’ 50% RR’ 25% RR’ 25%
R’ 50% RR’ 25% RR’ 25%

100% pink

 Codominance
 In which the phenotypes produced by both alleles are clearly expressed are called
codominance.
 Offspring show characteristics of both parents.
 Heterozygous chickens have a color described as “erminette,” speckled with black and white
feathers.
 Both alleles are symbolized by a capital letter.

Example: In some chickens, the gene for feather color is controlled by codominance. The allele for black
is B and the allele for white is W. The heterozygous phenotype is known as erminette.

a. What is the genotype for black chickens?

BB
b. What is the genotype for white chickens?
WW
c. What is the genotype for erminette chickens?
BW
3. If two erminette chickens were crossed, what is the probability that: (use a Punnett square)
a. They would have a black chick? 25% BB
b. They would have a white chick? 25% WW
 B 50% W 50%
B 50% BB 25% BW 25%
W 50% BW 25% WW 25%

4. A black chicken and a white chicken are crossed. What is the probability that they will have
erminette chicks?

B 50% B 50%
W 50% BW 25% BW 25%
W 50% BW 25% BW 25%

100% B B

 Multiple Alleles
 A single gene can have many possible alleles. A gene with more than two alleles is said
to have multiple alleles.

Example: Blood type has 4 alleles for the antigen and 2 alleles foe rhesus (+/-)

A+ B- O + AB - A- B+ O- AB +
 Polygenic Traits
 Traits controlled by two or more genes are said to be polygenic traits.
 Polygenic means “many genes” and often show a wide range of phenotypes.

Example: The variety of skin color in humans comes about partly because more than four
different genes probably control this trait.

 Genes and the Environment

 The characteristics of any organism are not determined solely by the genes that organism
inherits.
 The phenotype of an organism is only partly determined by its genotype.
  Environmental conditions can affect gene expression and influence genetically determined
traits.

Example:

Scientific studies revealed that butterflies hatching in springtime had greater levels of pigment in their
wings than those hatching in the summer. In other words, the environment in which the butterflies
develop influences the expression of their genes for wing coloration.

In order to fly effectively, the body temperature of the Western white butterfly needs to be 28–40°C.
More pigmentation allows a butterfly to reach the warm body temperature faster.

Similarly, in the hot summer months, less pigmentation prevents the butterflies from overheating.

Exercises:

1. The so-called "blue" (really gray) Andalusian variety of chicken is produced by a cross between
the black and white varieties, both of which breed true (i.e., both are homozygous).
What color chickens (and in what proportions) would you expect if you crossed two blues? a
blue and a black?
2. In four o'clock, red color exhibits incomplete dominance over white; when both exist
together, the flowers are pink.
a. In a cross between a red flower and a white one, what is the genotype of the offspring?
b. What is the genotypic ratio of the F2 generation if two of the F1 from (a) are crossed?
c. List the genotypes of offspring produced by a cross between the F1 generation and red
parent.
3. It has long been known in the field of human genetics that wavy hair is the expression of a
heterozygous genotype in which the allele for straight hair is paired with the allele for curly hair.
Lucinda Lovelee married Larry Legg. Both of these charmers have wavy hair.
What is the probability that their offspring, the littlest Legg, will have:
a. wavy hair?
b. curly hair?
c. straight hair?
4. If pale colored horses are crossed with chestnut-colored horses to produce "palomino", an
intermediate coat color:
 a. What type of expression is suggested?
b. A number of matings between palominos produced 19 pale, 21 chestnut, and 44 palominos.
Does this evidence support or contradict your answer to (a)? Why?

5. If Mr. and Mrs. Fecundity, both having blood type B, have 12 children, 3/4 of whom are type B
and 1/4 of whom are O, what are the genotypes of the parents?

6. A family of six includes four children, each of whom has a different blood type: A, B, AB and O.
What are the genotypes of parents for this trait?

7. A man with blood type B, with one parent of blood type O, marries a woman with blood type
AB. What will be the theoretical percentage of their children with blood type B?

8. Mrs. Smith and Mrs. Doe were roommates at Harris Hospital and both had daughters at about
the same time. After Mrs. Smith took Susie home, she became convinced that the babies had
been switched. Blood tests were performed with the following results:
Mr. and Mrs. Smith were both type AB;
Mr. and Mrs. Doe were both type A;
Susie Smith was type A and Debbie Doe was type O.
Had a switch occurred?

14.1 Human Chromosomes and transmission

 Genome: is the full set of genetic information that an organism carries in its DNA. The analysis of
any genome starts with chromosomes.
 Karyotype

 Karyotype A karyotype shows the complete diploid set of chromosomes grouped together
in pairs, arranged in order of decreasing size.
 The human karyotype consists of 22 pairs of autosomes and one pair (last) of sex
chromosomes X or Y.

Females: two X chromosomes

 Males: one X chromosome; one Y chromosome

X 50% X 50%

X 50% XX 25% XX 25%

Y 50% XY 25% XY 25%

 Sex chromosomes

 This Punnett square illustrates why males and females

are born in a roughly 50 : 50 ratio.

 All human egg cells carry a single X chromosome, however, half of all sperm cells carry an
X chromosome and half carry a Y chromosome.

 More than 1200 genes are found on the X chromosome, some of which are shown.
  The human Y chromosome is much smaller than the X chromosome and contains only about
140 genes, most of which are associated with male sex determination and sperm
development.

 Autosomal
Chromosomes
 T
he remaining 44 human chromosomes are known as autosomal chromosomes, or
autosomes.
 The complete human genome consists of 46 chromosomes, including 44 autosomes and
2 sex chromosomes.

Male: 2n = 44 + XY
Female: 2n= 44 + XX

 Transmission of Human Traits

1- Most human traits follow a pattern of simple

dominance or codominance.

Example 1: The allele for Rh factor comes in two

forms: Rh+ and Rh- . Rh+ is dominant, so an individual
with both alleles (Rh+ /Rh- ) is said to have Rh positive
blood. Rh negative blood is found in individuals with
two recessive alleles (Rh- /Rh- ).

Example 2: However, the alleles for the ABO blood

group genes display codominant inheritance (IA , IB ,and i).
 2- Because the X and Y chromosomes determine sex, the genes located
on them show a different pattern of inheritance called sex-linked.

 Transmission of Sex-linked Traits

 Sex-linked gene: is a gene located on a sex chromosome.

 Genes on the Y chromosome are found only in males and are
passed directly from father to son.
 Genes located on the X chromosome are found in both sexes,
but the fact that men have just one X chromosome leads to some
interesting consequences (patterns).

Example: Humans have three genes responsible for color vision, all located
on the X chromosome.

In males, a defective allele for any of these genes results in colorblindness, an inability to distinguish
certain colors. The most common form, red-green colorblindness, occurs in about 1 in 12 males.

Among females, however, colorblindness affects only about 1 in 200. In order for a recessive allele, like
colorblindness, to be expressed in females, it must be present in two copies—one on each of the X
chromosomes.

The recessive phenotype of a sex-linked genetic disorder tends to be much more common among
males than among females because it only needs one allele on X chromosome to be expressed while
in females it needs the presence of 2 alleles.

Example 1: Consider the eye color of flies is sex linked in which red is dominant over white.

1- A pure red-eyed female was crossed with a white-eyed male.

 Phenotypic and Genotypic Ratios of Punette Square:

XR X r normal female (Carrier) 50%

XR Y normal male 50%

2- Carrier normal female was crossed with a red-eyed male.

XRXr x X RY

Genotypic Ratios of Punette square:

XR XR 25 %

XR X r 25%

XR Y 25%

Xr Y 25%

Phenotypic Ratios:

50% normal female ( 1 pure and 1 carrier)

25% normal male

25% recessive expressed

male

Note that in the recessive expressed male only one recessive allele was present and it was expressed.
 Question 2: Construct a cross that could produce a white-eyed female fruit fly.

Answer: Students should show a cross between a white-eyed male (X rY) and a heterozygous female
(XRXr) or a homozygous recessive female (XrXr). Homozygous recessive female offspring (XrXr) will have
white eyes. SHOW THE PUNNETE SQUARE.

Example 3: Hemophilia is a recessive sex-linked disease in humans. What are the chances a normal
male and a carrier female will have a child w/ hemophilia?

XH 50% Y 50% 25% XhY chance to have a male with hemophilia

XH 50% XHXH 25% XHY 25% Females 100% normal

Xh 50% XHXh 25% XhY 25% Males 50% normal

 X-Chromosome Inactivation
 Barr Body: In female cells, most of the genes in one of the X chromosomes are randomly
switched off, forming a dense region in the nucleus. That’s how females adjust to the extra X
chromosome found in their nuclei.
 Barr bodies are generally not found in males because their single X chromosome is still active.
Example: In cats, a gene that controls the color of coat spots is located on the X chromosome.
One X chromosome having an allele for orange spots may be switched off in some parts of the
body. The other X chromosome having an allele for black spots is switched off in other parts of
the body. As a result, the cat’s fur has a mixture of orange and black spots. Male cats, which
have just one X chromosome, can have spots of only one color. If a cat’s fur has three colors—
white with orange and black spots, it’s definitely a female.

 Y-linked Genes
  A condition is considered Y-linked if the altered gene that causes the disorder is located on
the Y chromosome, one of the two sex chromosomes in each of a male's cells.
 Because only males have a Y chromosome, in Y-linked inheritance, a variant can only be
passed from father to son.

Exercises:

1. Red-green color blindness is inherited as a sex-linked recessive. If a color-blind woman marries a man
who has normal vision, what would be the expected phenotypes of their children with reference to this
character?

2. Suppose that gene b is sex-linked, recessive, and embryonic lethal. A man marries a woman who is
heterozygous for this gene. If this couple had many normal children, what would be the predicted sex
ratio of these children?

3. A man and his wife both have normal color vision, but a daughter has red-green color blindness, a
sex-linked recessive trait. The man sues his wife for divorce on grounds of infidelity. Can genetics
provide evidence supporting his case?

4. In the mouse, the dominant sex-linked gene B results in a short, crooked tail. Its recessive allele b
produces a normal tail. If a normal-tailed female is mated with a benttailed male, what phenotypic ratio
should occur in the F1 generation?

5. In cats, a gene for coat color is sex-linked. Cats homozygous for allele A have yellow coats; those
homozygous for allele a have black coats; and heterozygotes have tortoiseshell coats. What type(s) of
offspring would result from a mating of a black male and a tortoise-shell female? Is it possible to obtain
a tortoise-shell male?

6. On the X chromosome of Drosophila there may occur a recessive gene l, which is lethal in the larval
stage. A heterozygous female is crossed to a normal male; what F1 adult sex phenotypic ratio results?

7. What is a Barr Body? Why it’s important in females?

8. What is a karyotype?
 Human Pedigrees

 A pedigree is a visual chart that

depicts a family history or the
transmission of a specific trait. They
can be interesting to view and can be
important tools in determining
patterns of inheritance of specific
traits
 Pedigrees are used primarily by
genetic counselors when helping
couples decide to have children when
there is evidence of a genetically
inherited disorder in one or both
families.
 They are also used when trying to
determine the predisposition of
someone to carry a hereditary
disease for example, familial breast
cancer.
Main components of a pedigree:

 The steps when interpreting a pedigree chart

1- Determine if the pedigree chart shows an autosomal or X- linked disease.

• If most of the males in the pedigree are affected, then the disorder is X-linked.

• If it is a 50/50 ratio between men and women the disorder is autosomal.

2- Determine whether the disorder is dominant or recessive.

• If the disorder is dominant, one of the parents must have the disorder.

• If the disorder is recessive, neither parent has to have the disorder because they can be
heterozygous.

Hints for analyzing pedigrees:

1) If the individual is homozygous recessive, then both parents MUST have at least one recessive allele
(parents are heterozygous or homozygous recessive).

2) If an individual shows the dominant trait, then at least one of the parents MUST have the dominant
phenotype. This one will be pretty obvious when you look at the pedigree.

3) If both parents are homozygous recessive, then ALL offspring will be homozygous recessive.

 Types of inheritance
Rules of Inheritance for Mitochondrial trait

Rules of Inheritance for Autosomal Recessive

 A consanguineous marriage is defined as a union between two individuals who are related
as second cousins or closer in which they have a higher chance to give birth to affected
offspring.
Rules of Inheritance for Autosomal Dominant

Rules of Inheritance for X-linked Dominant

Rules of Inheritance for X-linked Recessive
Rules of Inheritance for Y-linked Dominant
 Examples on Identifying types of Inheritance
  14.2 Human Genetic Disorders
 From Molecule to Phenotype
 There is a molecular reason for genetic disorders.
 A change in DNA or genes can alter an amino acid sequence, which can change a protein
and therefore, the phenotype.

 Genetic Disorders:

1- Sickle cell Disease:

- This disorder is caused by a defective allele for beta-globin, one of two polypeptides in
hemoglobin, the oxygen-carrying protein in red blood cells making hemoglobin molecules less
soluble, and thus causing them to stick together when the blood’s oxygen level decreases.
- The molecules clump into long fibers, forcing cells into a distinctive sickle shape, which gives the
disorder its name.

2- Cystic fibrosis CF:

- most common among people of European ancestry.
- Recessive disorder
- Children with CF have serious digestive problems and produce thick, heavy mucus that clogs
their lungs and breathing passageways.
- A deletion of three bases in CFTR gene causes cell membranes to lose their ability to transport
chloride ions
- The cystic fibrosis transmembrane conductance regulator (CFTR) protein is a chloride channel
that is responsible for regulating the proper flow of chloride and sodium 
- People with one normal copy of the CF allele are unaffected by CF, because they can produce
enough CFTR to allow their cells to work properly

3- Huntington’s disease:

- is caused by a dominant allele for a protein found in brain cells.

- a single codon CAG coding for the amino acid glutamine repeats more than 40 times, causing
mental deterioration and uncontrolled movements.
- usually do not appear until middle age.
- The greater the number of codon repeats, the earlier the disease appears, and the more severe
are its symptoms.

 Genetic Advantages of Disorders

 Malaria: is a mosquito-borne infection caused by a parasite that lives inside red blood cells;
common in Africa.
  Typhoid: is caused by a bacterium that enters the body through cells in the digestive
system. The protein produced by the CF allele helps block the entry of this bacterium.
 Individuals heterozygous for CF would have had an advantage when living in cities with poor
sanitation and polluted water, and—because they also carried a normal allele—these
individuals would not have suffered from cystic fibrosis.
 Also, a person with sickle-cell disease is less likely to be infected with malaria.
 In conclusion, some alleles that cause disease in the homozygote can provide an advantage
in the heterozygote. The geographic associations between sickle cell disease and malaria
and between cystic fibrosis and typhoid demonstrate how the heterozygous state reduces
the risk of infection.

 Chromosomal Disorders
 Sometimes, during meiosis, homologous
chromosomes fail to separate. This
nondisjunction (not coming apart) can create a
gamete with an abnormal number of
chromosomes, leading to offspring with missing
or extra chromosomes.

 Examples include:

1- Trisomy:

- Two copies of an autosomal chromosome fail to separate during meiosis, an individual may be
born with three copies of that chromosome.

- The most common form of trisomy, involving three copies of chromosome 21, is Down syndrome,
which is often characterized by mild to severe mental retardation and a high frequency of certain
birth defects.

2- Turner’s syndrome:

- Nondisjunction of the X chromosomes

- A female with Turner’s syndrome usually inherits only one X chromosome.
- Women with Turner’s syndrome are sterile, which means that they are unable to reproduce.
Their sex organs do not develop properly at puberty

4- Klinefelter’s syndrome:
 - In males, nondisjunction in males resulting from the inheritance of an extra X chromosome,
which interferes with meiosis and usually prevents these individuals from reproducing.
- A male with an extra X chromosome (XXY)
- There have been no reported instances of babies being born without an X chromosome,
indicating that this chromosome contains genes that are vital for the survival and development
of the embryo.

Choose the correct answer.

How many human genetic disorders are known?

A. three

B. about 20

C. about 100

D. thousands

The inherited disease in which hemoglobin molecules clump into long fibers, changing the shape of
blood cells is

A. cystic fibrosis.

B. sickle cell disease.

C. Huntington’s disease. D. Klinefelter’s syndrome.

What happens to the CFTR gene in individuals who have cystic fibrosis?

A. The entire gene is deleted.

B. The entire gene is duplicated.

C. Three bases are deleted, causing one amino acid to be missing.

D. Three bases are duplicated, causing one amino acid show up about 40 times.

Why are individuals who are heterozygous for the cystic fibrosis allele unaffected by the disease?

A. They have an extra copy of the allele on their X chromosome.

B. Cystic fibrosis only occurs in males, so females are unaffected.

C. They make enough of a particular protein to allow their cells to work properly.

D. Their cells can transport chloride ions through diffusion channels.

How might the allele that causes a disease stay in the population if it is fatal to those who have the
disease?

A. It is present only in heterozygotes.

B. It makes the heterozygote resistant to a fatal disease.

C. It disappears but is continuously replaced by mutations.

D. It occurs only in certain geographic areas.

What advantage do individuals with one sickle cell allele have?

A. a stronger resistance to malaria

B. immunity to typhoid fever

C. more rigid red blood cells

D. no advantage

Each step belows explain how genetic disorders have a molecular basis. Number them so that the
steps are in the correct order.

_______A change in phenotype results.

_______ A gene’s DNA sequence changes.

_______ The amino acid sequence that alters a protein changes.

Answer the following questions.

1. What is trisomy? Give an example

2. What happens when a male has XXY sex chromosomes?
3. Can a Turner’s syndrome female reproduce?
4. What is cystic fibrosis?
5. What is the difference between genetic and chromosomal disorders?
6. Explain why cystic fibrosis protects from typhoid.
Complete this graphic organizer to explain the process and outcomes of nondisjunction.