HEREDITY

DEFINITION
Heredity is about how traits are passed down from parent to offspring.

Chromosomes, genes, and traits

TRAITS - The patterns on one’s body, e.g. size. These traits are coded for in the DNA. Some of
the traits inherited can be influenced by the environment. For example, if Spike had not had the
nourishment he needed, that could affect his size.

 our DNA codes for our traits, and our cells can’t function without it. DNA determines how
tall you are, what color your eyes are, what color your hair is, or even if you’re at risk for
certain diseases. Also, your ENTIRE DNA code is in most of your body cells.

DNA has a beautiful structure and that structure will help you understand how inheritance
works.
DNA stands for deoxyribonucleic acid.

 It’s a type of nucleic acid--a type

of biomolecule.
 Nucleic acids are made up of
building blocks called
nucleotides.
 Nucleotides have 3 parts: sugar
called deoxyribose; phosphate;
base (PURINES - adenine,
guanine, PYRIMIDINES -
thymine, cytosine)
 The sequence of the bases
actually code for traits.
 These bases actually pair in a specific way. (A—T; C—G)
 But the amount of DNA bases overall---and the sequence of those bases we
mentioned----will vary among different species, and also, among different individuals.
STRUCTURE

 DNA has two strands so there are

nucleotides running up one side and
there’s nucleotides running up the
other side.
 The bases are what pair in the middle.
 The bases are held together by
hydrogen bonds.
 The DNA is also twisted in something
we call a double-helix shape.

GENES

 Portions of DNA make up genes.

 We can say, for example, that this
part of the DNA here makes up a
gene.
 Genes can code for proteins.
 Proteins can have a huge role in
expressing a trait.
 For example, let’s consider your own
eye color. Human eye color is a pretty complex trait that is actually determined by many
genes. The genes can code for proteins involved in producing the eye color pigment.
 But proteins coded for by genes play a wide variety of roles besides just your eye color.
Proteins are involved in transport, in structure, in acting as enzymes that can make all
kinds of materials, in protecting the body…and so much more.
 NOTE:
 not all genes are used to make protein.
  And there are parts of DNA that are noncoding.
 And even though nearly all of your body cells have your entire DNA code---your
body cells may only use certain portions of those genes.
 Genes can be turned on or turned off by a variety of mechanisms. (Gene regulation)
CHROMOSOME
Now you have a lot of DNA. When it is
compacted, it can be organized into a unit called a
chromosome. Very helpful when you’re trying to
make more cells and need to get the DNA into
those new cells.

 Chromosomes in your body involve DNA

wrapped around protein structures.
 Humans have 46 chromosomes. That means
nearly every body cell in your body has 46
chromosomes.
 Human sperm and egg cells, on the other
hand, each contain 23 chromosomes.
 So, you received 23 chromosomes from your
mother and 23 chromosomes from your
father to give you your 46 chromosomes.
Your genetic code.

RECAP
A single chromosome consists of genes. These genes consist of portions of DNA. DNA is made
up of nucleotides, and it’s bases ---the sequence of them---that makes the difference in coding
traits.

DNA AND RNA

IMPORTANCE
DNA stores genetic information and codes for your traits. However, sometimes what gets left
out is how important RNA is. Without RNA, you actually couldn’t get that genetic message out to
your cells so that they can start producing proteins through protein synthesis. RNA is a very
important biomolecule – just as important as DNA.
Compare and contrast

DNA SIMILARITIES RNA

 DNA is generally  DNA and RNA can be  RNA is generally
double stranded, and found in all living single-stranded,
the two strands of organisms. hence it has only one
nucleotides run  In eukaryotic cells, strand.
antiparallel to each DNA tends to be  the sugar in RNA is
other. found in the nucleus ribose. (RNA stands
 The sugar in DNA is while you can find for ribonucleic acid as
deoxyribose. (DNA RNA both in and out its sugar is ribose.)
stands for of the nucleus.  The bases in RNA are
 deoxyribonucleic acid. Prokaryotic cells don’t adenine, uracil,
That’s helpful to know have a nucleus. guanine, and
because the  Both DNA and RNA cytosine.
“deoxyribose” is a are nucleic acids,
sugar, and “nucleic which are a type of
acid” is that type of biomolecule.
biomolecule it is.)  Nucleic acids have a
 The bases in DNA are monomer---a
adenine, thymine, monomer is a building
guanine, and block.
cytosine.  The monomer for
nucleic acids is a
nucleotide so both
DNA and RNA have
nucleotides.
 The nucleotides of
both RNA and DNA
have three parts: a
phosphate, sugar,
and a base.

3 different types of RNA and their roles.

 mRNA, which stands for messenger RNA. mRNA’s job is to carry a message based off
of the DNA. In eukaryotic cells, DNA generally stays in the nucleus but mRNA has the
ability to leave the nucleus to take this message to a ribosome.
 Ribosomes make protein and RNA is actually a major component of ribosomes. This
type of RNA is called rRNA, which stands for ribosomal RNA.
 Finally, transfer RNA or tRNA. Its job is to transfer amino acids to match the correct
mRNA codon. Codon charts using mRNA codons have been developed so that you can
actually see which amino acid is brought for each mRNA codon.
When those amino acids are joined together, they make a polypeptide chain. Proteins are
made of one or more of these polypeptide chains, and proteins have tons of different roles.

CHROMOSOMES
In prokaryotes
like bacteria
chromosomes
tend to have
circular
shapes. While
eukaryote
chromosomes
are X-shaped.

HUMAN CHROMOSOME
STRUCTURE

 Chromosomes are made of

chromatin and chromatin
consists of DNA and
protein.
 A chromosome itself is
really intense packaging.
 It starts with DNA being
wound around proteins
called histones---this
forms nucleosomes which are often considered to look like “beads.”
 More and more condensing packaging levels occur until it results into the chromosome
level. But why all this packing? Well, in your cells, DNA has to fit inside a nucleus. It’s
also really important for when you make more cells, like in the process of mitosis.
 But in mitosis, you have to be able to move DNA into new daughter cells. You have so
much DNA that these highly packed chromosomal units make it easier to do so. By the
 way, it’s not always packed up so tightly. For example, in DNA replication, DNA typically
needs to be unwound. There are a variety of factors that also influence how tightly
packed chromatin is.
 Let’s get kind of a general idea about
how human chromosomes may be
represented. Human chromosomes can
be like this as a single component---or
they can be replicated----like this.

 So in humans, you have 46

chromosomes.
 In interphase they are
duplicated.
 There are still 46 chromosomes
here but that’s 92 chromatids in
this picture.
 During a stage of mitosis
(anaphase), those 92
chromatids get pulled apart so that each cell will have 46 chromosomes.
Now, while most of your body cells have 46 chromosomes, it's important to remember that
certain genes on the chromosome may be turned on or off by a variety of factors. For example,
you wouldn’t want your eye cells actively using a gene to produce stomach enzymes.

KARYOTYPE

 An image of all of your

chromosomes.
 It is possible to have a karyotype
made as part of some types of
medical screenings.
 In a karyotype, the
chromosomes are stained and
visible.

 The chromosomes from a

karyotype are typically from a
cell that is in a mitosis stage-
typically metaphase- as
chromosomes are condensed
and thick;
 a karyotype during interphase
would be a challenge because
you don’t have that condensed
DNA packing.
 Now while the mitosis stages
anaphase or telophase would
be a time when each
chromosome would have a
single chromatid- those phases are generally not when you do a typical karyotype.
 For optimal viewing, a typical karyotype is taken at or right before metaphase- recall
from mitosis that in metaphase, the chromosome would have two joined sister
chromatids. It’s just that many times the joined sister chromatids of the chromosome can
be so close together that, to an untrained eye, it might be difficult to see that each
chromosome in the karyotype technically has 2
sister chromatids.

 When arranging the karyotype, the chromosomes

are arranged in homologous pairs.
 Homologous chromosomes are about the same size and contain the same types of
genes---and in each homologous pair, you receive one chromosome from one parent and
one chromosome from the other parent.
The 23 pairs

 22 of the pairs---44 of the chromosomes---are called autosomes. This means they are
not related to your biological sex. They may have genes related to eye color or height or
hair texture.
 The last two chromosomes are called sex chromosomes because they determine
biological sex. Females have two X chromosomes. Males have one X and one Y
chromosome.
XX AND XY CHROMOSOMES

 So, 23 of these chromosomes are from the father, from a sperm cell which is a gamete.
Unlike body cells, gametes have half the number of chromosomes as body cells.
Sperms cells are considered haploid because they only have 1 set of chromosomes.
The other 23 of the chromosomes came from the mother, contained in an egg, which is
also a gamete. An egg cell is haploid because like the sperm cell, it contains only 1 set
of chromosomes.
 When a sperm and egg cell combine, they form a fertilized egg, known as a zygote.
 The resulting cell is diploid as it has 2 sets of chromosomes and it will divide to continue
to form more diploid cells. You are a diploid organism.
 Now if you look at the sex chromosomes, you know that mothers can only give a X
chromosome, because that’s the only type of sex chromosome they have. But fathers
can give a X---the baby would then be XX: female---or a Y---the baby is XY: male. So
fathers determine the biological sex.
APPLICATION

 It helps when we are trying to understand genetic disorders. A karyotype can reveal
missing chromosomes or extra chromosomes at specific locations.

ALLELES AND GENES

 Each parent contributes an allele---which is

a variant of a gene.
 An allele is a variety of a gene; a form of a
gene.
 The alleles could be the same form of the
gene or different forms of the gene---but
regardless, in this case, they’re forms of
the gene involved with PTC taste
sensitivity.

 So if PTC taste sensitivity is being used

as a one gene trait example then your
DNA code has a gene related to PTC
taste sensitivity. Together the two
alleles you inherit, the forms of that
gene, determine the trait of tasting PTC
or the trait of not tasting PTC.
 That gene is involved with coding for
taste receptors on your tongue and the
receptors you have can make a
difference for whether you taste PTC or not.
DEFINITION AND FUNCTION

 The alleles are typically represented by letters.

 If a capital letter is used to represent an allele, it means it’s a dominant allele.
 If a lowercase letter is used to represent an allele, that means it’s a recessive allele.
Recessive alleles are typically not expressed unless there is no dominant allele present.
 Now remember that you have two allele copies, so the combinations you can have are
called genotypes. Your genetic makeup.
 Genotypes can help determine a phenotype, which is a physical characteristic based on
genotype.
NOTE: You’ll notice when writing genotypes, capital letters are put first if it contains a capital
letter. That’s not because the order matters; it’s a formatting formality that capitals are written
first.
Punnett squares can be used to determine the probabilities of offspring having certain
genotypes---which then can be used to determine their phenotypes
Remember you have to get an allele, a form of a gene, from EACH parent.
For example, If my parents do taste PTC (phenylthiocarbamide) and I do not, then my parents
have the genotype Tt while I have tt. And their phenotype is PTC taster..
In this example, the dominant trait of being able to taste PTC is more common than the
recessive trait of not being able to taste PTC. And one could jump to an assumption that
dominant traits are more common, especially since it only takes the presence of one dominant
allele to show up in the phenotype. At least, in Mendelian inheritance. But the dominant trait is
not always more common in a population, because it's possible that the dominant allele itself is
more rare. That can be the case with some forms of polydactyly…that is being born with extra
fingers. Some forms of polydactyly can be a dominant trait caused by the presence of at least
one dominant allele; however, the dominant allele may not be as common in the population and
the condition of having extra fingers is generally rare.

MONOHYBRID AND THE PUNNET SQUARE

DEFINITION OF TERMS:
 The genetic traits of an organism are coded for in their DNA. DNA makes up genes,
and organisms receive genes from both their mother and their father.
 An allele is a form of a gene and often represented by a letter.
 A recessive allele is usually represented by a lowercase allele. By recessive, it
means that the allele will not usually show up ---the only way it will show up is if
there is no dominant allele present.
 A dominant allele is represented by a capital letter and is an allele that will show
up. (dominating)
 A genotype is the genetic makeup of an organism---can be represented as
lowercase hh or can be represented as HH or Hh.
 It only takes one dominant allele (“H”) for a trait to show up. That dominating allele
means the recessive is hidden.
 A genotype of HH or hh is considered homozygous. The root in this word (“homo”)
means “same” and they are the same case.
 HH are both capital and hh are both lowercase. HH is homozygous dominant,
because of the capitals. And hh is homozygous recessive because of the
lowercase.
 A genotype of Hh is considered heterozygous. The root in this word (“hetero”)
means “different”

MONOHYBRID CROSS
The root “mono” means 1 because it focuses on one trait—in this case hair--and that
means a Punnett square would need to be created like this with 4 squares like this. In our
cross, we are going to cross two heterozygous guinea pigs.

Step 1: figure out the genotypes of the parents.

Step 2: Place one parent along the top of the
Punnett square, outside of the boxes. Place the
other parent along the left of the square, outside
of the boxes.
Step 3: Cross them. For formatting purposes, we
always put the capital letter first. The results you
get in the squares would be the offspring---the
babies.

 Now the genotypes of the babies, could be

listed out: 1 HH, 2 Hh, and 1 hh.
 And that could even be turned
into a genotype ratio: 1HH: 2
Hh: 1 hh.
 Or a percentage 25% HH,
50%Hh, and 25% hh.
 Phenotypes---“pheno” sounds like “physical” so the
phenotype would be the physical traits of that
organism. Or the set of observable characteristics of
an organism.
 in this example, it’s whether they have hair or not.
Remember any babies that have a capital “H” have a
DOMINATING allele, and they will have hair. So the
babies that are HH or Hh have hair! So, 3 of them---
the 1 HH baby and the 2 Hh babies---all have hair.
The hh baby has no dominant allele present so it will be hairless.
 The phenotype ratio is 3 have hair: 1 hairless; and phenotype percentage
could be 75% hair, 25% hairless.
Note:
One thing to emphasize about Punnett squares is that they are predictions. Punnett square
is only predicting the chances of having offspring with certain genotypes or phenotypes
These are probabilities. This means that it’s not necessarily exactly what you are going to
get. For example, it’s a probability that a child has a 50/50 chance of being born a boy or
girl but we all know a family that only has children that are girls or a family that only has
children that are boys. Probabilities are predictions.

DIHYBRID AND TWO-TRAIT CROSSES

DIHYBRID - a cross with two pairs of alleles. The root “di” means two. So, two traits.

 For example, cats loving sinks is a dominant trait represented by the allele S and
that not loving sinks is a recessive trait with the allele s. Let’s also take in account
that cats typically have hair but they can also be hairless. Having hair will be
represented by the allele H and not having hair would require two recessive h
alleles.
 So let’s say we want to cross a cat that is heterozygous for the trait of having hair
and also for liking sinks. Heterozygous for both traits would be represented by the
genotype HhSs. Now we want to cross that cat with a hairless cat that does not love
sinks. To be hairless, the cat must be hh. A dominant allele, capital H in this case,
would mean it has hair. And if it does not love sinks…a recessive trait in our
example…then it is ss. A dominant allele, capital S, would mean that it does like
sinks. So the second cat is hhss.

Remember:
 Those alleles on the top and sides represent the alleles that would be in the
gametes of the parents.
 Gametes are sperm cells—if male---and egg cells---if female. And they are
haploid---contain half of the genetic material as the cat’s body cell.
 So it makes sense that if there are two alleles---letters---in the Hh parent, then a
gamete would only carry one letter---a H or a h. This is known as Mendel’s law of
segregation. The gametes only carry one allele for a gene.
 Well if you have a cat that is HhSs, there are four alleles there. Two genes—one
involving hair and one involving sinks---so if gametes carry only one allele—letter--
per gene (Mendel’s law of segregation), that means each gamete is going to have
two alleles.
 In those gametes, with each of them having two alleles (letters), you have to
account for every possible combination. Mendel’s law of independent assortment
says that those alleles are not linked. That means a cat can have hair and love sinks
or not have hair and love sinks---there is no link.

So, let’s work out a dihybrid with the parent cross of HhSs x hhss.
Step 1: write the parent cross with your 16 square Punnett square.
Step 2: gamete combinations from the parents are written along the top and side of the
Punnett square. The FOIL (FIRST, OUTSIDE, INSIDE, LAST) method is used to come up
with the gamete combinations. So when you FOIL HhSs, you get these gamete combos:
HS, Hs, hS, and hs. Place those on the top of the Punnett square. FOIL the other parent
hhss, you get these gamete combos: hs, hs, hs, hs. Place those on the side of the Punnett
square. They are all the same, because notice
that was all that parent could contribute as far as
alleles. Remember again---each gamete must
have one allele (letter) of each gene. That’s why
you won’t find a gamete with only H’s or only S’s.
One allele of each.
Step 3: combine the gametes to see what the
offspring prediction will be. For formatting
purposes, because the parents had H’s coming before S’s, we write it that way with the
offspring as well. For formatting, you also put capitals of each letter type before the
lowercase.

 So in our example, what is the

genotype ratio in the predicted
offspring? Remember that genotypes
are the genetic make-ups---the letters
that represent the alleles.
 So 4/16 (25%) are HhSs, 4/16 (25%)
are Hhss, 4/16 (25%) are hhSs, and
4/16 (25%) are hhss. That’s a 1:1:1:1
ratio.

 What about phenotypes? Well half

of the cats have hair here and half of
the cats don’t.
 But with dihybrids, often you are
asked about both traits. For
example, what chance would be
predicted for a kitten to be born that
was like our Moo? Moo has hair and
loves sinks. Well it’s a 4/16---25%
chance----that a kitten would be like
Moo.
 We could write out the ratio 4/16
(25%) have hair/love sinks, 4/16
(25%) have hair, dislike sinks, 4/16
(25%) hairless/love sinks, and 4/16 hairless/dislike sinks. This
is a 1:1:1:1 ratio.

Remember: In our example, the genotype and phenotype ratios were the same. This does
not always happen.

NON-MENDELIAN TRAITS
Genetically, they are RULE BREAKERS! They don’t follow the regular Mendelian rule that
having a dominant allele means the dominant trait will show.
Incomplete Dominance
 In incomplete dominance, the dominant allele is not completely expressed with the
recessive allele is around.
 In snapdragon genetics, there can be 3
phenotypes. Red. White. Or something in
between---PINK! It’s called incomplete
dominance. So if you cross a red flower (written
RR) and a white flower (written rr), you get babies
that are Rr. But unlike a Mendelian trait, if
incomplete dominance, that R allele is not
completely expressed when the r is around. So Rr
in this case is pink!

 If you cross two pink flowers (Rr), like shown in

this Punnett square you can get offspring that are
red, white, or pink.

Codominance
 Codominance---like a coworker---that pre-fix “co” should make you think “together”.
They work together. The alleles, that is.
 For that reason, we like to use different letters
entirely. In some breeds of chickens, there is a
codominance involving color. Take a look at
this Punnett square. If you cross a black
chicken---represented by BB----and a white
chicken----represented by WW------all the
offspring here are BW. BW chickens are both
black and white. Speckled! See, both traits
show up---this is the essence of codominance.
Variation of Concept
 In incomplete dominance---one allele is not completely dominant over the other so
you see an almost “in between” phenotype. In codominance, neither allele is
dominant over the other, so both alleles are expressed.

Polygenic Traits

 Poly means many---so “many” genes coding for one trait is what polygenic means.
 Height. There isn’t just one height gene. There’s LOTS of genes that determine your
height. It means that you don’t just have a pair of alleles, like AA, Aa, or aa that
code for your height. It’s more like someone having a genotype of AABbCcDD etc to
ultimately determine height. And you inherit one
allele for each of the height genes---from each
parent. All of those genes work together to
determine your height. Your skin color is also
determined by many genes just like your height.
These are called polygenic traits.
 By the way, both height and skin color can be
influenced by environmental factors as well. Nutrition growing up can affect your
height just as spending a lot of time in the sun can affect your skin color. However,
this doesn’t change the genetics for this trait.

Epistasis
 It is when one gene really depends on another gene for it to be expressed.
 For example, a llama, it has a dominant B allele which means its wool will be black.
So BB or Bb means it will have black wool and let’s say that if a llama has a pair of
recessive alleles---bb---it will have brown wool. Now what if there is another gene---
an epistatic gene---that controls whether the pigment will even be expressed in the
llama wool in the first place? A llama can have a genotype of CC, Cc, or cc for this
epistatic gene. However, if a llama has the genotype cc, it will not allow the other
gene for wool color to even be expressed.
 Since we have two genes here---the gene for
wool color and the epistatic gene---- this calls
for a 16 square dihybrid. If you notice in this
dihybrid crossing two heterozygote llamas
(BbCc and BbCc), BB and Bb will typically
give a black llama and bb will typically give a
brown llama in all cases UNLESS the
epistatic gene inherited is cc. If the llama has
a cc in its genotype, then the gene for wool
color is not expressed and the llama is
albino. This means that no pigment is expressed at all.

Remember: when problem solving in genetics, you do not want to just assume it’s non-
Mendelian unless you are provided information or clues in the problem that it might be .

Multiple Alleles (ABO Blood Types)

 One phenotype that you can’t just tell by looking is your blood type. Your blood is
really made of many things----platelets, plasma, and red blood cells.

 Blood type is genetically inherited and a great example of multiple alleles.

Remember that alleles are a form of a gene.

Importance of blood matching

 Blood type phenotypes vary. It really boils down to the fact that red blood cells
are not naked. They have proteins on their surface. And it turns out that your
immune system is very protective and if it gets blood donated that have different
proteins that it’s not used to, it will attack them!
 With blood type, you can have several different phenotypes: A, B, AB, or O.
These letters stand for antigens that are found on red blood cells.
 So type A blood, for example, has A antigens on the surface of red blood cells.
Type B blood, for example, has B antigens on the surface of red blood cells.
Type AB blood has both A and B antigens on the surface of red blood cells. Type
O doesn’t have A or B antigens but it does have other proteins on its surface but
not A or B.
 So if you are type B blood, you have B antigens on the surface of red blood
cells. That means, a person with type B can accept another person's type B
blood because B is an antigen their body recognizes. But if you try to give that
person a type A blood type, that's an antigen that the immune system does not
 recognize. That person's immune system will attack! It would also attack AB
blood, because that includes the A that it doesn’t recognize. Now Type O would
be safe though as it doesn’t have A or B antigens. So type O can donate to
everyone!
 Now while O individuals can donate to everyone, they can only receive blood
from another type O. Because type O blood does not have A or B antigens, their
immune system will attack any other blood type that does.
 Neither of us have type AB blood, but we would think this is a cool blood type to
have in the sense that you could receive blood from anyone. If an AB person
received blood from a person that had Type A, well they’ve got the "A" so it’s all
good. And if an AB person received blood from a person that had type B, well
they’ve got the B antigen too, so it’s all good. They can receive blood from type
O too because there are not any antigens to even worry about.
 Now one thing we want to add that makes all of this a bit more complicated---
blood types also have a plus or minus sign listed by the blood type. This makes
a big difference with blood donations. If you have a plus, it means that you have
this other little protein called Rh factor on the surface of your blood cells. If you
have a negative, it means that you do not have this little protein called Rh
factor on the surface of your red blood cells.
.
For example, a couple gives birth to a baby boy. Both parents have type A blood. But then,
there was a mixup at the hospital! And now there are these two baby boys and the hospital
doesn’t know which one belongs to the couple! Baby Phil has Type B blood and baby
Sylvester has Type O blood. Could either of these babies belong to the couple, who both
have type A blood?

Format of writing with multiple alleles like blood type problems

NOTE:
I stands for immunoglobulin

PUNNET SQUARE FOR THE

PROBLEM

Explanation:
Is it possible to get baby Phil---who
has type B in any of these
offspring? No. He must be
someone else’s baby.
What about baby Sylvester with his
type O? YES! It is possible but
both parents would have to be
heterozygous A. Then, yes, you
would have a 25% chance (that's 1
in 4 here) of having a baby with
type O blood.

Sex-Linked Traits
 Sex-linked traits are traits that are specifically on the sex chromosomes.
 Most sex-linked traits tend to be on the X chromosome, because it is larger than the
Y chromosome and contains more genes than the Y chromosome.

Platelets--- one of the most underappreciated pieces of cytoplasm--- are fragments of

cytoplasm that help stop us from bleeding. They help our blood to clot when we get hurt.
Hemophilia - a disorder that can affect those platelets and even a basic cut could be
dangerous for them because they could bleed continuously.
- a sex-linked, recessive trait which means it is different from basic Mendelian
genetic problems. We still use the terms dominant and recessive for alleles---
but this time---those alleles are on sex chromosomes. This is the case with
sex-linked traits.
Sex chromosome
 Recall that humans have 46 chromosomes. Chromosomes are made up of DNA and
protein.
 They contain your genes. Two of your 46 chromosomes are called the sex
chromosomes. In a karyotype, it is usually the last two chromosomes that are the sex
chromosomes. The sex chromosomes are called X and Y chromosomes.
 Everyone has a X chromosome. If you have two X chromosomes---you are female.
And if you have an X and Y chromosome---you are male.

The disorder hemophilia is like this.

 We will use the letter “H” to represent an allele for not having hemophilia and a letter
“h” to represent an allele for having hemophilia. Hemophilia is a recessive disorder,
which is why it is being represented by a lowercase letter h.
 Only, it must be placed on the sex chromosomes as a superscript. Like an exponent.
 A woman that does not have hemophilia could have the genotype XHXH or XHXh.
Because as long as she’s got at least one dominant allele---that dominating allele---
will be what shows. So, no hemophilia, since again, hemophilia is a recessive
disorder. The only way for her to have hemophilia would be the genotype XhXh.
Because only when there is no dominant present will that recessive show up, at
least in this type of trait.
 For a male to not have hemophilia, his genotype would have to be XHY. Notice how
I didn’t put anything on the Y chromosome---again, most sex-linked traits are on the
X chromosome. If he has the genotype XhY, then he has hemophilia. He doesn’t
have two X chromosomes, so in this disorder, he either has it or he doesn’t. There is
no heterozygous genotype for the male so he cannot be a carrier.

Example: Two people that do not have hemophilia have children. However, the woman is a
carrier. That means she is heterozygous. How do you do a sex-linked Punnett square cross
for this kind of trait?
Step 1: Identify the genotypes of the parents.
So the mother is XHXh.
She doesn’t have hemophilia because of the
dominant allele present but she is a carrier.
The male, if he does not have hemophilia, must
be XHY.
Step 2: Place one parent on the top, outside of
the square. Place the other parent on the left,
outside of the square.
Step 3: Cross them! For formatting purposes,
place X chromosomes before Y. You also write
any sex chromosomes with dominant letters
first. The results you get in the squares would
be the offspring.

The genotype ratio could be written out

like this.

The phenotype ratio can be written out

that there is a 75% chance that a child
will be born without hemophilia and a
25% chance that a child would have
hemophilia, for this boy here.
Notice that in this type of example of a
sex-linked recessive disorder---boys are
more likely to inherit this disorder---
because they only have one X
chromosome. This is true for many
other sex linked recessive disorders,
such as color blindness.

PEDIGREES
 A pedigree is like a family tree- it can show information about an inherited trait
passed across generations.
  In a pedigree, the circles
represent females.
 Squares represent males.
 Roman numerals represent generations.
There are 2 generations here.
 This between the parents is called a
marriage line. 
 This line here connects parents to
children so you can see there are two
children from this marriage.
 The shaded shapes represent a trait that
is being tracked in the pedigree. 

EXAMPLE 1: (not sex-linked pedigree)

Here are 2 important facts about the particular trait I am choosing to track. 
Fact #1 about this trait being tracked is that it’s recessive. 
Recall that in typical Mendelian inheritance, dominant alleles---if present---will express 
dominant traits. Recessive alleles only are expressed when the dominant allele is not
present. 
Fact #2 about this trait is that it is an autosomal recessive trait.  Just a reminder that
autosomal means a chromosome that is not a sex chromosome.  In human body cells,
there are 46 chromosomes. The first 44 (22 pairs) are autosomes.  The last 2 (1 pair) are
sex chromosomes.  So this trait is not sex-linked since it is autosomal and that means it
does not need to be written as exponents on the sex chromosomes. 

So what is the trait we’re tracking? Attached earlobes--humans may have free or attached
earlobes. Although we want to point out that there may be more than just these two
categories for ear lobes, and while this example is used often in basic genetics, there’s
probably more to this than just one simple gene. 
For our example, let’s assume a one gene trait and that free earlobes is dominant,  meaning
at least one dominant allele must be around. Attached earlobes is recessive, showing no
dominant allele is present. So if we were to put the genotypes next to each of these
shapes, what would they be? 
The shaded ones would be easy.
Because we just mentioned that
attached earlobes is the trait
we’re tracking and it is an
autosomal recessive trait. 
So if we use the letter “e” then
these shaded shapes must be
lowercase e, lowercase e. 
Any capital (dominant) letter and
the individual would have to
have free earlobes and not be
shaded.  So let’s look at
individual #2 in the first
generation. That’s the father. He’s not shaded so he can’t be ee.  What about EE? Well
there’s a problem. See his children? Each child must get an allele from EACH  parent. So if
I received a little “e” from my mom, then I had to get my other “e” from my dad.  Therefore E
E  or he’d have no little “e” to give! His genotype must be the  heterozygote genotype,
Ee. He’s what we call a carrier though he still has a phenotype of free earlobes because
of that one capital. But he carries the lowercase allele.

EXAMPLE 2 (CONTINUATION)
 Let’s look at a big family
reunion! how many siblings
does my dad have?  My dad
is in generation 2 (#4).  He
has three siblings, all
brothers, right here. What is
the phenotype of my
paternal grandfather?
Because his square is
shaded---that  means his
phenotype is attached
earlobes. 
 Now take a look at
generation 1, individual 1. That would be my paternal grandmother. What’s her
genotype? We know it’s not little ee or her shape would be shaded.  But if we went
with EE could that still work?  Yes, all the offspring could get a E from her and e
from my grandfather. But what about Ee. Would that work too? Yes! Because the
children could still get a big E from her and a little e from my grandfather. 
  It may be less of a probability, but it’s possible and therefore we must list both that
she is EE OR Ee, because we don’t know.  All the offspring of my paternal
grandparents though are going to have to be Ee.  Remember they have to get an
allele from each parent and that means they're going to have to pick up that little “e”
from my grandfather. They will be heterozygotes and that’s the only option here.
 Did you see that generation 1, individual 4 has to be a carrier only (Ee)?  Because if
not, then the shaded individual children would not be able to get the “ee” that that
they have, because they have to get a little “e” from both parents. 
 How about individual 9? This female married in, but that’s not the reason that she
can be either EE or Ee. If you look at the children, they aren’t shaded. So while they
will have to get a little “e” from number 8 as that’s all #8 can give…the other capital
letter can be obtained from #9 regardless of whether she’s EE or Ee. Remember,
one option may be more likely, but if it’s possible, you need to include both.

EXAMPLE 3 (sex-linked pedigree)

There are a lot of sex-linked recessive traits. Color-blindness and some male patterns of
baldness can be sex-linked. Let’s pretend now, we are told this is a sex-linked recessive
trait. 
 First of all, all the females (the circles) should have an XX to indicate two X sex
chromosomes by them. Remember females have two X chromosomes.  Males
should have an XY to indicate an X and a Y sex chromosome.
 Now remember that we were told this pedigree is tracking sex-linked recessive
traits. So the shaded one here has the sex-linked recessive trait. 
 Let's use the letter "R" for an
allele.  Now recall that
females that do not have the
trait can be either this or this.
And the heterozygote
genotype is a carrier. 
 She doesn’t have the trait
herself because of the
dominant allele but she’s
carrying it. Only a female that
is this will have the sex-linked
recessive trait. 

 So if I’m looking at this pedigree, what

would the genotype for individual 1 in gen.
1 be? 
 Well notice here she has 3 children and one
of her sons here is shaded. 
 Where does her son get his Y sex
chromosome from? The father. 
 Where does he get his X sex chromosome
from? His mother! 
 Individual 1 doesn’t have the trait or
she would be shaded, but she must be a
carrier if her son received a X chromosome
with a recessive allele on it. 
 Now what about individual 2 in generation
2? Well she can be this like her mother. But look, she could also be this because
it’s possible to get one of those from each parent. If it’s possible, you must include it.

Remember:
 make sure that when you look at a child---they have to be able to get one of
their alleles from EACH parent. 
 all of these examples were recessive.  It doesn’t have to be that way. 
 If it’s a dominant allele that you are tracking, remember it would only take ONE
dominant allele for a person to have that trait. Another quick thing to point is
sometimes you will see pedigrees that are half shaded—ones that are carriers. 

IMPORTANCE
Mapping and understanding pedigrees is important, especially as we continue to make
advancements in understanding how genetic disorders are inherited.