Name_________________________________________________________________________ Period______

Chromosomes

Humans have 46 chromosomes in every one of our cells (apart from sperm and eggs). Chromosomes are made
up of long strands of DNA, wrapped around proteins. There are two copies of every chromosome, known as
homologous chromosomes, in each cell. Homologous chromosomes carry the same type of genetic information:
that is, they have the same genes in the same locations. However, they don't necessarily have the same versions
of genes. That's because you may have inherited two different gene versions (alleles) from your mom and your
dad.

For example, you have one Chromosome 4 from your mom and one Chromosome 4 from your dad. Chromosome
4 contains approximately 1600 genes that provide instructions for making proteins, including: Huntington’s
disease, Parkinson’s disease, Narcolepsy, and a gene associated with red hair. Since you have two of each
chromosome, it's possible for a person to have two identical alleles for a gene (a double dose of the allele for
narcolepsy). On the other hand, you may have two different alleles on your two homologous chromosomes, such
as one for narcolepsy and one for no narcolepsy.

But what if you get an allele for brown eyes from your mom and blue eyes from your dad? Will you have one blue
and one brown eye? Probably not. In cases like this, there is usually one allele that is considered “dominant” and
one that is considered “recessive.” The dominant gene is the one that is “expressed,” or the one that can be seen
in your traits. In this particular case, your eyes will be brown since blue eyes is considered a recessive allele. You
will however, still have the allele for blue eyes that can be passed on to your children. In order for your eyes to be
blue, you must have two recessive alleles.

Analysis Questions
1.​ Why do you have two copies of each chromosome?
Because you inherit them from your parents

2.​ List possible alleles for these genes:

a.​ Hair color: brown, black, blonde
b.​ Hair texture: straight, curly, wavy
c.​ Bellybutton type: innie, outie

3.​ What does it mean if an allele is considered dominant or recessive?

Dominant: expressed or seen in the traits of an individual, even if there is only one copy
 Recessive: expressed if the individual has two copies of that allele

Analyzing chromosomes

Analysis Questions
4.​ Of the four genes shown, which ones are homozygous (have the same alleles)?
Physique

5.​ Of the four genes shown, which ones are heterozygous (have different alleles)?
Eyebrows

6.​ Which chromosome is from your mom? Which is from your dad?
Mom is red

Blue is dad

7.​ Are these considered homologous chromosomes? How do you know?

Yes, because they have same structure and different alleles
REMIX
Here’s what I’ve always wondered: if you and your
siblings each have half of your genes from your mom,
and half of your genes from your dad… why don’t you
look exactly alike? How can siblings have different
colored eyes or hair? The answer can be found in
studying how sperm and eggs are made – meiosis.

Sperm and egg cells are special in that they only have
ONE set of chromosomes (23 in total). When a sperm
and an egg cell join together, the resulting cell has 23
chromosomes from mom and 23 from dad (46 in total).

During crossing over in meiosis, pairs of homologous

chromosomes line up and actually SWITCH
SEGMENTS. This results in chromosomes that are
mixed with genes from each of your parents. The cells
then divide twice, leaving each sperm or egg cell with a
different assortment of genes.

Women typically only release one egg per month, so

which combination of genes she releases is up to
random chance. Men typically release 500 million sperm
at once, so the lucky sperm that makes it to the egg is
also up to chance! Will you receive your mom’s allele for
blue eyes or brown eyes? Will you receive your dad’s
allele for bushy eyebrows or no?! This is how you can
end up with blue eyes and delicate eyebrows, while your sister can end up with brown eyes and bushy eyebrows.

In the diagram to the right, you will see that the “baby” actually has chromosomes that are a mix of genes not only
from your parents, but from your grandparents. You share 50% with each parent, but your parents share 50% with
each of your grandparents. So each generation, a random combination of DNA is passed down from your
ancestors – you are the remix version of your parents. Meiosis is the DJ.

Analysis Questions
8.​ Explain what crossing over is.

Crossing over occurs during meiosis, where pairs of homologous chromosomes line up and exchange
segments of their DNA. This results in chromosomes that contain a mix of genes from both parents. Crossing
over increases genetic variation, as it creates new combinations of alleles in the sperm or egg cells.

9.​ How can you and your siblings end up with different features?
Crossing over
 10.​Explain what is meant by you are the “remix” of your parents.
You are a unique combination of the DNA from both your mom and dad. During meiosis, DNA from your
grandparents gets shuffled and passed to your parents, and then further mixed and passed down to you. This
process creates a unique version of you, with traits that are a blend of genes inherited from previous
generations—similar to how a DJ remixes music to create a new song.

Karyotypes
The image to the right (known as a karyotype)
shows all of your chromosomes arranged in size
order. Scientists and doctors look at karyotypes
when they are looking for potentially harmful alleles
or mutations. You will notice that there are two
copies of every chromosome, or 23 pairs in total.

The 23rd pair of chromosomes are two special

chromosomes, X and Y, that determine our sex.
Females have a pair of X chromosomes (46, XX),
whereas males have one X and one Y chromosome
(46, XY).

Although most people have two copies of every

chromosome, occasionally chromosomal mutations
do occur. This can be in the form of extra
chromosomes (47) or deletion of chromosomes
(45), usually resulting in non-functioning proteins.
Disorders of chromosome number are caused
by nondisjunction, which occurs when pairs of homologous chromosomes or sister
chromatids fail to separate during meiosis.
When a sperm with only 22 chromosomes combines with a normal egg, the resulting zygote will only
have 45 chromosomes. When a sperm cell with an extra chromosome (24) ends up fertilizing a normal
egg, the resulting zygote will have 47 chromosomes.

Most chromosomal deletions or additions cause an embryo to stop developing. The most common
chromosomal disorders to survive birth are an extra chromosome 21 (Down’s Syndrome), an extra
chromosome 18, or those involving the X or Y chromosome.

Analysis Questions
11.​Is the karyotype above for a male or female? How do you know?
Male, the 23rd copy is XY

12.​Does this person have any chromosomal abnormalities? How do you know?
Yes, there are 3 copies in chromosome 21
 13.​Label the following as female or male and normal or abnormal (in terms of chromosome
number).
Ex: 46XX – normal female
a.​ 45XY - abnormal male
b.​ 47XX - abnormal female
c.​ 46XY - normal male

Check for Understanding

Fill in the Blank Drawing

14.​In the nucleus of every cell are the

complete instructions for making
you.
15.​Human somatic cells have 23 pairs
(46 in total) of homologous
chromosomes.
16.​They come in pairs because one you
inherit one of each chromosome
from each parent.

17.​Chromosomes are made of long

strands of DNA.
18.​Genes are segments of DNA that
code for protein.
19.​You have 2 different versions of
every gene, known as alleles.
20.​You have a gene for hair color and
one allele for this would be brown
hair.
21.​The diagram to the right shows
nondisjunction, in which
chromosomes fail to separate during
meiosis.
22.​This leaves one sperm or egg with
an extra chromosome, and one with
one less chromosome.
23.​If these ones are fertilized, it can
lead to chromosomal disorders in
which a person has 45 or 47
chromosomes.

DNA Gene 47 45
Protein 2 23 parent
Allele 46 egg nucleus
Nondisjunction sperm