Main content
MCAT
Course: MCAT > Unit 5
Lesson 9: Chromosomal inheritance- Chromosomal inheritance questions
- Evidence that DNA is genetic material 1
- Evidence that DNA is genetic material 2
- Sex-linked traits
- Worked example: Punnett squares
- Genetic recombination
- Gene mapping
- Extranuclear inheritance 1
- Extranuclear inheritance 2
© 2023 Khan AcademyTerms of usePrivacy PolicyCookie Notice
Sex-linked traits
Sex-linked traits are characteristics that are determined by genes located on the sex chromosomes. Inheritance patterns for these traits can differ for males and females, since the X and Y chromosomes differ. One example of a sex-linked trait is color blindness, which is primarily seen in males. X-inactivation can also influence the expression of sex-linked traits. Created by Sal Khan.
Want to join the conversation?
- So if a woman has hemophilia and has a son, then he would have to have hemophilia too, right?(98 votes)
- That's correct! Ok so Khan Academy doesn't like a short answer so I will go a little in depth.
Basically, the mother donates one of her X chromosomes. Since she is a hemophiliac both of her X chromosomes have the allele for it. The husband doesn't really matter here. He could be free of hemophilia but sense he donates the Y chromosome for a boy it doesn't really matter.(124 votes)
- What is hemophilia?(16 votes)
- Hemophilia is a disease that makes it difficult for your blood to clot. So if someone with hemophilia were to get cut, this would probably make them bleed for a long time before it stopped. That fact that it is sex-linked though makes it particularly interesting. Since women have two x chromosomes, they are less likely to suffer from homophilia because they have an extra x chromosome which will be able to make the clotting protein correctly even if the other can't. Men do not have that type of insurance. If their x chromosome is defective in that way then they will have it.(87 votes)
- can someone have 2 y chromosomes(17 votes)
- Technically yes, as there is a condition known as XYY syndrome where an error in sperm cell formation will leave a sperm cell with two Y chromosomes. However, no one can only have two Y's, as the mother's egg will always provide an X.(40 votes)
- ive heard about people with too many or too few sex chromosomes, but what happens if a person doesn't have any sex chromosomes at all?(18 votes)
- if a person didn't have any sex chromosomes, then they wouldn't be able to survive. to live, a person must have at least one X chromosome because it has the most information on it. there are people who have maybe an XXY sex chromosome, because either the father's sperm cell or the mother's egg cell had a problem during meiosis. but to sum it up, if you had no sex chromosomes, the blastocyst would never develop and the mother would have never know she was pregnant(20 votes)
- are the x and y chromosomes part of the 22 pairs of chromosomes (the autosomal) or would that be a 23rd pair???(12 votes)
- x and y chromosomes are not parts of autosomal chromosome. they are 23 pair(49 votes)
- How many genes does a chromosome have? Is tht same in all?(10 votes)
- No, each chromosome has a different number of genes. One thing to remember is that chromosomes are numbered according to their size. With the first chromosome being the largest and the smallest one is 22. There is a small exception here with the X and Y chromosomes. As a result, the larger chromosomes have more information and therefor probably more genes.(13 votes)
- Are there any other diseases like hemophilia which affects only x or y chromosome?(6 votes)
- There are quite a few of them. The most popular one, I believe, is red-green colour blindness and it's x-linked.(9 votes)
- Since X chromosome inactivation occurs in females, why is it that females who are carriers for x-linked diseases don't express the disease? I know that the inactivation occurs early in development, but if 50% of the cells express the allele that can pass on the disease, shouldn't the expression of these alleles result in expression of the disease?(5 votes)
- Excellent question. I had this question from quite a long time. The answer is that heterozygous carrier females do express some symptoms of the disease, but the few cells where the functional allele is not inactivated produce enough protein to prevent a full-blown syndrome, and in many cases, keeps the disease un-noticeable. In haemophilic females, there is some deficiency of the clotting factors and this deficiency varies greatly in different females. Many a times, when the disease-gene is at a specific locus. Such locations may escape lyonization (X-inactivation) and might still transcribe proteins even if they are on the x-chromosome chosen for inactivation. This escape is quite well-documented in certain cases. In others, such as colour blindness, the few cells expressing the normal phenotype compensate for the others expressing diseased phenotype (in this case, the phenotype is colour sensitivity of cones in retina). If none of these work, heterozygotes for x-linked recessive (or dominant) will have an intermediate phenotype, somewhere between normal and diseased. see http://www.nature.com/scitable/my-discussion/2181 if you have a scitable account. But, I have summarized all the essentials.(8 votes)
- My teacher says it is impossible for a woman to have hemophilia as a man having hemophilia cannot survive for long. And as a result the female cannot marry the man having hemophilia and cannot produce female offspring having hemophilia. Is this explanation correct?(2 votes)
- No. Plenty of men with the disease survive long enough to have children, especially with modern medicine. Usually only men get the disease because it is caused by an allele for a gene located on the X chromosome. Men only have one X chromosome whereas women have two. The allele is rare enough in the population that a woman is unlikely to have two copies of the allele and thus women are usually unaffected.(12 votes)
- Women have two x chromosomes, each with about 1,500 genes, while men only have a x chromosome and a y chromosome, with only about 78 genes. Could this be a factor in why women live longer than men?(6 votes)
- I do not believe that women live longer due to having 2 X chromosomes. A woman's somatic cells turn off one of the X chromosomes on random. This is called a Barr body. The only place the 2 X chromosomes come into play is in the meiosis of germ cells. Therefore, while women get more genes through 2 X chromosomes, it is not necessary for the women to "use" all the genes from the sex chromosomes.(2 votes)
Video transcript
By this point in the biology
playlist, you're probably wondering a very natural
question, how is gender determined in an organism? And it's not an obvious answer,
because throughout the animal kingdom, it's actually
determined in different ways. In some creatures, especially
some types of reptiles, it's environmental. Not all reptiles, but
certain cases of it. It could be maybe the
temperature in which the embryo develops will dictate
whether it turns into a male or female or other environmental
factors. And in other types of animals,
especially mammals, of which we are one example, it's
a genetic basis. And so your next question is,
hey, Sal, so-- let me write this down, in mammals it's
genetic-- so, OK, maybe they're different alleles, a
male or a female allele. But then you're like, hey, but
there's so many different characteristics that
differentiate a man from a woman. Maybe it would have to be a
whole set of genes that have to work together. And to some degree,
your second answer would be more correct. It's even more than just
a set of genes. It's actually whole chromosomes
determine it. So let me draw a nucleus. That's going to be my nucleus. And this is going to be
the nucleus for a man. So 22 of the pairs of
chromosomes are just regular non-sex-determining
chromosomes. So I could just do, that's one
of the homologous, 2, 4, 6, 8, 10, 12, 14. I can just keep going. And eventually you
have 22 pairs. So these 22 pairs right there,
they're called autosomal. And those are just our standard
pairs of chromosomes that code for different
things. Each of these right here is a
homologous pair, homologous, which we learned before
you get one from each of your parents. They don't necessarily code for
the same thing, for the same versions of the genes,
but they code for the same genes. If eye color is on this gene,
it's also on that gene, on the other gene of the
homologous pair. Although you might have
different versions of eye color on either one and that
determines what you display. But these are just kind of the
standard genes that have nothing to do with our gender. And then you have these two
other special chromosomes. I'll do this one. It'll be a long brown one, and
then I'll do a short blue one. And the first thing you'll
notice is that they don't look homologous. How could they code for the same
thing when the blue one is short and the brown
one's long? And that's true. They aren't homologous. And these we'll call our
sex-determining chromosomes. And the long one right here,
it's been the convention to call that the x chromosome. Let me scroll down
a little bit. And the blue one right there,
we refer to that as the y chromosome. And to figure out whether
something is a male or a female, it's a pretty
simple system. If you've got a y chromosome,
you are a male. So let me write that down. So this nucleus that I drew
just here-- obviously you could have the whole broader
cell all around here-- this is the nucleus for a man. So if you have an x chromosome--
and we'll talk about in a second why you can
only get that from your mom-- an x chromosome from your mom
and a y chromosome from your dad, you will be a male. If you get an x chromosome
from your mom and an x chromosome from your dad, you're
going to be a female. And so we could actually even
draw a Punnett square. This is almost a trivially easy
Punnett square, but it kind of shows what all of the
different possibilities are. So let's say this is your
mom's genotype for her sex-determining chromosome. She's got two x's. That's what makes her your
mom and not your dad. And then your dad has an x and
a y-- I should do it in capital-- and has
a Y chromosome. And we can do a Punnett
square. What are all the different
combinations of offspring? Well, your mom could give this
X chromosome, in conjunction with this X chromosome
from your dad. This would produce a female. Your mom could give this other
X chromosome with that X chromosome. That would be a female
as well. Well, your mom's always going
to be donating an X chromosome. And then your dad is going to
donate either the X or the Y. So in this case, it'll
be the Y chromosome. So these would be female,
and those would be male. And it works out nicely
that half are female and half are male. But a very interesting and
somewhat ironic fact might pop out at you when you see this. Who determines whether their
offspring are male or female? Is it the mom or the dad? Well, the mom always donates an
X chromosome, so in no way does what the haploid genetic
makeup of the mom's eggs, of the gamete from the female, in
no way does that determine the gender of the offspring. It's all determined by whether--
let me just draw a bunch of-- dad's got a lot of
sperm, and they're all racing towards the egg. And some of them have an X
chromosome in them and some of them have a Y chromosome
in them. And obviously they
have others. And obviously if this guy
up here wins the race. Or maybe I should
say this girl. If she wins the race, then the
fertilized egg will develop into a female. If this sperm wins the race,
then the fertilized egg will develop into a male. And the reason why I said it's
ironic is throughout history, and probably the most famous
example of this is Henry the VIII. I mean it's not just the
case with kings. It's probably true, because most
of our civilization is male dominated, that you've had
these men who are obsessed with producing a male
heir to kind of take over the family name. And, in the case of Henry the
VIII, take over a country. And they become very
disappointed and they tend to blame their wives when the wives
keep producing females, but it's all their fault. Henry the VIII, I mean
the most famous case was with Ann Boleyn. I'm not an expert here, but the
general notion is that he became upset with her that she
wasn't producing a male heir. And then he found a reason
to get her essentially decapitated, even though
it was all his fault. He was maybe producing a lot
more sperm that looked like that than was looking
like this. He eventually does produce a
male heir so he was-- and if we assume that it was his
child-- then obviously he was producing some of these, but for
the most part, it was all Henry the VIII's fault. So that's why I say there's a
little bit of irony here. Is that the people doing the
blame are the people to blame for the lack of a male heir. Now one question that might
immediately pop up in your head is, Sal, is everything on
these chromosomes related to just our sex-determining traits
or are there other stuff on them? So let me draw some
chromosomes. So let's say that's an X
chromosome and this is a Y chromosome. Now the X chromosome, it does
code for a lot more things, although it is kind of
famously gene poor. It codes for on the order
of 1,500 genes. And the Y chromosome, it's the
most gene poor of all the chromosomes. It only codes for on the
order of 78 genes. I just looked this up, but who
knows if it's exactly 78. But what it tells you is it does
very little other than determining what
the gender is. And the way it determines that,
it does have one gene on it called the SRY gene. You don't have to know that. SRY, that plays a role in the
development of testes or the male sexual organ. So if you have this around, this
gene right here can start coding for things that will
eventually lead to the development of the testicles. And if you don't have that
around, that won't happen, so you'll end up with a female. And I'm making gross
oversimplifications here. But everything I've dealt with
so far, OK, this clearly plays a role in determining sex. But you do have other traits
on these genes. And the famous cases all deal
with specific disorders. So, for example, color
blindness. The genes, or the mutations
I should say. So the mutations that cause
color blindness. Red-green color blindness, which
I did in green, which is maybe a little bit
inappropriate. Color blindness and
also hemophilia. This is an inability of
your blood to clot. Actually, there's several
types of hemophilia. But hemophilia is an
inability for your blood to clot properly. And both of these are mutations
on the X chromosome. And they're recessive
mutations. So what does that mean? It means both of your X
chromosomes have to have-- let's take the case for
hemophilia-- both of your X chromosomes have to have the
hemophilia mutation in order for you to show the phenotype
of having hemophilia. So, for example, if there's a
woman, and let's say this is her genotype. She has one regular X chromosome
and then she has one X chromosome that has
the-- I'll put a little superscript there for
hemophilia-- she has the hemophilia mutation. She's just going to
be a carrier. Her phenotype right here is
going to be no hemophilia. She'll have no problem
clotting her blood. The only way that a woman could
be a hemophiliac is if she gets two versions of
this, because this is a recessive mutation. Now this individual will
have hemophilia. Now men, they only have
one X chromosome. So for a man to exhibit
hemophilia, to have this phenotype, he just needs
it only on the one X chromosome he has. And then the other one's
a Y chromosome. So this man will have
hemophilia. So a natural question should be
arising is, hey, you know this guy-- let's just say that
this is a relatively infrequent mutation that arises
on an X chromosome-- the question is who's more
likely to have hemophilia? A male or a female? All else equal, who's more
likely to have it? Well if this is a relatively
infrequent allele, a female, in order to display it, has
to get two versions of it. So let's say that the frequency
of it-- and I looked it up before this video--
roughly they say between 1 in 5,000 to 10,000 men exhibit
hemophilia. So let's say that the allele
frequency of this is 1 in 7,000, the frequency of Xh, the
hemophilia version of the X chromosome. And that's why 1 in 7,000 men
display it, because it's completely determined whether--
there's a 1 in 7,000 chance that this X chromosome
they get is the hemophilia version. Who cares what the Y chromosome
they get is, cause that essentially doesn't code at
all for the blood clotting factors and all of the things
that drive hemophilia. Now, for a woman to get hemophilia, what has to happen? She has to have two X
chromosomes with the mutation. Well the probability of each of
them having the mutation is 1 in 7,000. So the probability of her having
hemophilia is 1 in 7,000 times 1 in 7,000, or
that's 1 in what, 49 million. So as you can imagine, the
incidence of hemophilia in women is much lower than
the incidence of hemophilia in men. And in general for any
sex-linked trait, if it's recessive, if it's a recessive
sex-linked trait, which means men, if they have it, they're
going to show it, because they don't have another X chromosome
to dominate it. Or for women to show
it, she has to have both versions of it. The incidence in men is going to
be, so let's say that m is the incidence in men. I'm spelling badly. Then the incidence in
women will be what? You could view this as the
allele frequency of that mutation on the X chromosome. So women have to get
two versions of it. So the woman's frequency
is m squared. And you might say, hey, that
looks like a bigger number. I'm squaring it. But you have to remember that
these numbers, the frequency is less than 1, so in the
case of hemophilia, that was 1 in 7,000. So if you square 1 in 7,000,
you get 1 in 49 million. Anyway, hopefully you found that
interesting and now you know how we all become
men and women. And even better you know whom to
blame when some of these, I guess, male-focused parents
are having trouble getting their son.