Sex-linked inheritance

The human species has 46chromosomesarranged in 23 pairs, of those 23 pairs

22 somatic or autosomal chromosomes (inherit non-sexual traits) and one is a pair
of sex chromosomes (also called heterochromosomes or gonosomes),
identified as XX in women and as XY in men.

This pair of sex chromosomes not only carries the genes that determine sex,
but they also carry others that influence certain hereditary traits not Chromosomes
related to sex. sexual XX and
XY not only
See:Inheritance and genetics
define sex
There are characters that, without being primary sexual characteristics (genital organs, gonads) of the
or secondary (men's beards, women's breasts), only appear in one of the descendants.
of the two sexes, or if they appear in both, one of them is much more frequent.

These characters are referred to as sex-linked characters.

Variants in sex-linked inheritance

We saw that the sex chromosomes constitute a pair of homologues (XX in females and XY in males);
however, in the XY pair, a segment of each chromosome presents particular and exclusive genes
(heterologous segment, also called differential or non-homologous), the remaining portion of the chromosomes
the XY pair corresponds to the homologous sector, as illustrated in the following diagram:

Males carry only one representative of each gene located in the heterologous sector of the X (as they possess
an X) and women carry these genes in pairs (since they have two X). Consequently, the transmission and
the expression of these genes depends on the sex of the individuals.

Then, sex-linked inheritance refers to the transmission and expression, in different sexes, of the
genes found in the non-homologous (heterologous) sector of the X chromosome inherited from the father.

We can also say that sex-linked inheritance is more than the expression in the offspring of
the genes located in those regions of the X chromosome that do not have their counterpart in the
Y chromosome.

In the female sex, the presence of two X chromosomes causes the genes contained in them to
they behave as if they were found in autosomes, normally.
 Thus, a trait determined by a gene on the X chromosome will appear if the woman
it has a dominant allele on each of these chromosomes, or if it has two alleles
recessive, one in each of them (homozygous in both cases).
Yes, on the other hand, if the woman is heterozygous for that trait, the allele will still manifest.
dominant. That is, it is a classic and normal inheritance model, comparable to
the ones mentioned in Mendel's laws.

The case of the man is radically different. If the genes are found in the area of
chromosome X that has its corresponding (homologous) part in Y, act as in
the previous case.

Color blindness and In fact, some alleles have been found in the homologous sectors of the
XY chromosomes (called pseudoautosomal genes) and given the characteristics of
hemophilia, two
these special regions of the sex chromosomes, the disorders produced in
anomalies
due to these genes will be inherited according to the genetic laws that govern the
recessive
autosomal inheritance (that is, they work the same as autosomal ones).
located in the
segment But it is much more common for genes to be in one part of the chromosome X than
differential of the it does not correspond in the Y. If this happens, the alleles will always manifest,
X chromosome. whether dominant or recessive.

Therefore, we must remember that the genes linked to the sex chromosomes can be both recessive.
as dominant.

Sex-linked recessive inheritance

In men, the X and Y chromosomes can pair during meiosis.
Prophase I) due to their homologous fragments and therefore can produce
crossings in this area.

Y chromosome-linked inheritance or holandric inheritance

All the genes that are found in the differential or non-homologous segment of
Y chromosomes are inherited only by male children and will manifest in
all the men who carry them and only in men, regardless of whether
whether they are dominant or recessive.

The transmission of genes located in the non-homologous segment of the Y chromosome

it is the Holandric inheritance.

Hollanda

(From the Greek olos, all, and alter, man). It refers to the hereditary transmission of a
a trait or a disease that is passed from a parent to all their children, remaining
unscathed the daughters. It is linked to genes located in the non-homologous segment of
Y chromosome constituting a variety of sex-linked inheritance.

X-linked inheritance.

X-linked inheritance means that the gene causing the trait or the
the disorder is located on the X chromosome. Thomas Hunt
Morgan (25 of
It is worth remembering that women have two X chromosomes while men
they have one X chromosome and one Y chromosome. The genes on the X chromosome can
September 1866
December 4th
recessive or dominant, and their expression in women and men is not the
1945), geneticist
same because the genes of the Y chromosome do not pair exactly with
American
the X genes.
who concluded
that some
characters are
they inherit linked
to sex.
Recessive genes linked to the X chromosome are expressed in women only if there are two copies.
of the gene (one on each X chromosome). However, in males there should only be one copy of a gene
X-linked recessive for the trait or disorder to be expressed.

For example, a woman may be a carrier of a recessive gene on one of her X chromosomes without knowing it and
to transmit it to your son, who will express the trait or the disorder.

Among the examples of recessive disorders linked to the X chromosome are the cases of color blindness and
hemophilia, diseases caused by a recessive gene located precisely in the differential segment
of the X chromosome.

We emphasize that, due to its location, for a woman to suffer from the disease, she must be homozygous.
recessive (having the recessive gene on both X chromosomes), while in men it is enough that the
recessive gene is found on the only X chromosome they have.

Color blindness
This disease, determined by a recessive gene on the X chromosome, is an anomaly that consists of the
inability to distinguish between red and green colors. It is also commonly referred to as color blindness, and there is
many types.

The disease was described by an affected person, the English chemist John Dalton, in 1794. The name of
this alteration refers, precisely, to this scientist.

As we already said, the gene responsible for the disease is recessive and its presence causes color blindness in
the man, while the woman who possesses him is a bearer and does not manifest it. For a woman to be
Daltonism is necessary for it to have genes for color blindness on both X chromosomes (homozygous), which is
quite rare.
The visual acuity (the ability to see) of a colorblind person is normal. There are no significant complications; however,
embargo, the affected individuals may not be considered for certain jobs related to the
transport or the Armed Forces where the recognition of colors is necessary.

This disorder is 16 times more common in men than in women, because the gene is located
on the X chromosome (which is one in men and two in women; therefore; women have greater
possibilities of having the dominant gene for normal vision on one of the X chromosomes.
Let's remember that the dominant allele is the one that is expressed and is designated with an uppercase letter.

Let us remember, moreover, that the recessive allele is only expressed when the dominant one is not present.
design in lowercase.

If we characterize with an uppercase letter N (normal) the condition of the chromosome that carries the
the dominant gender that characterizes normal vision (without color blindness in our case), and with a lowercase 'u'
possession of the chromosome with the recessive gene for color blindness, the possible combinations that
they can give sound:

Let's remember that the Y chromosome is shorter than the X and therefore is empty in the part where it is.
the gene that determines normal vision.

Normal motherNXN) and normal father (XN

XN XN

XN XNXN XNXN
 Y XNY XNY

None of their children (male and female) will be colorblind or carriers.

2. Normal mother (XNXN) and my colorblind father (Xd

XN XN

Xd XdXN XdXN

Y XNY XNY

All carrier daughters (100 percent) and all normal sons (100 percent).
The described combination is illustrated in the following image, where the recessive gene for color blindness is identified.
with the red lequis (X):

Only daughters
carriers, children
no affected.

3. Carrier mother and normal father:

Xd XN

XN XNXd XNXN

Y XdY XNY
Fifty percent of their daughters will be carriers and fifty percent of their sons will be colorblind.

The described combination is illustrated in the following image, where the recessive gene for color blindness is identified.
with the axis in red (X):

Daughters and sons,

some healthy ones,

others
carriers.

4. Carrier mother and color-blind father:

Xd XN

Xd XdXd XdXN

Y XdY XNY

50 percent of carrier daughters, 50 percent of colorblind daughters, 50 percent of colorblind sons, 50 percent
normal children.

5. Colorblind mother and normal father:

Xd Xd

XN XNXd XNXd

Y XdY XdY
All carrier daughters and all colorblind sons.

6. Colorblind mother and colorblind father:

Xd Xd

Xd XdXd XdXd

Y XdY XdY

All children (boys and girls) are colorblind.

Statistically, the most common scenario is a carrier mother with a normal father.

Let's analyze a case:

What type of vision will the offspring of a woman with normal vision whose father was colorblind have?
(therefore she is a carrier) and a colorblind man whose father was also colorblind?

What will their genotypes and phenotypes be?

Solution:

We know that color blindness depends on a recessive gene located in the differential segment of the
X chromosome.

For this disease, women can be homozygous (XNXNor XdXdheterozygous (XNXd).

Due to the fact that the allele that determines color blindness is recessive (d), heterozygous women are
carriers without suffering from it and the homozygous ones are color blind. In contrast, men can only be
homozygous for the disease (XNY) o (XdY), so that, if they carry the recessive allele causing the
color blindness, they always suffer from it.

Based on this explanation, the problem statement is as follows:

Let's identify the chromosomes as

N: normal

color blindness
Assuming that the woman is of normal phenotype (does not manifest the disease) but has a colorblind father, the only one.
possible genotype is:XNXd(carrier)

In the case of the man, being colorblind and with a colorblind father, his genotype is: XdY

So, their combinations are:

XN Xd

Xd XNXd XdXd

Y XNY XdY

The genotypes and phenotypes of the offspring are:

Of the women, there is a 50 percent chance of being of normal phenotype (genotype X)NXd) and another
50 percent of those who are colorblind (genotype X)dXd).

Of the men, there is a 50 percent chance that they are of normal phenotype (genotype X)NY)y
another 50 percent of being asthmatic (XdY).

Ver: PSU: Biology;Question 10_2006

Hemophilia A
Hemophilia A is a disorder in which the blood does not clot properly due to a deficiency of
coagulation factor called Factor VIII. The result is an abnormal excessive bleeding that does not stop,
even in the case of a small cut.

People with hemophilia A develop bruises easily and may have internal bleeding.
within the joints and muscles.

Hemophilia A occurs in one in every 10,000 newborn males.

There is a treatment through the infusion of Factor VIII (blood transfusion).

Women carriers of the gene may show mild signs of Factor VIII deficiency such as the
bruises that appear easily or bleeding that takes longer than normal to stop afterwards
a cut. However, not all carrier women show these symptoms.

It is believed that one third of all cases are new mutations in the family (not inherited from the mother).

Sex-linked dominant inheritance

Sex-linked dominant inheritance occurs when an abnormal gene from one of the parents is able to
to cause the disease, although there may be a compatible gene from the other parent that is normal. The
Abnormal gene dominates the result of the gene pair.

Although the vast majority of diseases in the human species are transmitted by linked genes.
Sex is due, as we have already seen, to a recessive gene; there are also examples in which the gene for some
of the diseases is dominant, although the dominant genes linked to the X chromosome are very few
frequent.

It is a type of inheritance characterized by the fact that the affected males transmit the trait to
all of his daughters and none of his sons (since they do not receive the X chromosome but the Y, which does not carry
the gene. The affected women, meanwhile, transmit it to half of their sons and half of their daughters.

For example, if there are four children (two boys and two girls) and the mother is affected (one abnormal X and
has the disease), but the father does not, the statistical expectation is:

Two children (a girl and a boy) with the disease

Two children (a girl and a boy) without the disease

XE Xs

Xs XEXs XsX

Y XEY XY
For greater understanding, we identify the dominant gene or allele with a capital A (Disease) and healthy.
the recessive with a lowercase (healthy).

Now, if there are four children (two girls and two boys) and the father is affected (one abnormal X and has the
(disease), but the mother does not, the statistical expectation is:

Two girls with the illness

Two children without the disease

Xs X

XE XEXs XEX

Y XsY XY

An example of this type of inheritance is hypophosphatemia (rickets that does not respond to treatment with the administration of
vitamin D).

See: PSU: Biology;Question 01_2006(2)

What is the autosomal inheritance pattern?

dominant?
The pattern of autosomal dominant inheritance occurs when the altered allele is dominant.
About the normal, just one copy is enough for the disease to be expressed.
being autosomal, the gene is found in one of the 22 pairs of non-sex chromosomes.
sex chromosomes, or autosomes, potentially affecting sons and daughters with equal probability. The allele

altered can be inherited from both the father and the mother. It normally occurs in all
the generations of a family. Each affected person normally has an affected parent.
and a 50% probability with each child that they will inherit the mutated allele and develop the
autosomal dominant disease.