Genetics and Human Reproduction
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This assignment delves into the intricate relationship between genetics and human reproduction. It examines various genetic conditions such as Huntington's disease and cystic fibrosis, outlining their causes and inheritance patterns. The role of genetic counselors in providing guidance and support to families affected by genetic disorders is also discussed. The document includes case studies to illustrate these concepts and emphasizes the importance of understanding genetics in the context of reproductive health.
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Human Reproductive System
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TABLE OF CONTENTS
1. Role of different structures within male and female reproductive system .............................1
2. Control of the hormones over the reproductive system.........................................................3
3. Evaluation of the table............................................................................................................5
4. Causes of the following genetic conditions............................................................................8
5. Role of genetic counsellor.......................................................................................................8
REFERENCES..............................................................................................................................10
1. Role of different structures within male and female reproductive system .............................1
2. Control of the hormones over the reproductive system.........................................................3
3. Evaluation of the table............................................................................................................5
4. Causes of the following genetic conditions............................................................................8
5. Role of genetic counsellor.......................................................................................................8
REFERENCES..............................................................................................................................10
1. Role of different structures within male and female reproductive system
Female reproductive system
Ovaries
Ovaries are considered as the primary organs of the reproductive system. These secretes
two of the very essential hormones which are important for a female body in the whole process
of the reproduction (Agarwal and et.al, 2012). These involve oestrogen and progesterone. In
every cycle, egg is being matured in one of the ovaries and that egg is being filled with a specific
fluid known as “Graffian follicle”. There are fallopian tubes as well which are also considered as
the oviducts. These help in transferring the egg from the ovaries till the uterus of a female.
Sub divisions of the fallopian tubes
The oviducts are further categorised in four parts which are discussed as under:
Infundibulum
It is categorised as a funnel shaped organ which has the work of receiving the eggs near
the ovaries.
Ampulla
A huge part is present in the fallopian tubes which is considered as the ampulla's.
Isthumus
After the ampulla, there is a wider and thick wall, it is called as Isthumus.
Uterine part
This is the linkage which passes by the wall of the uterine and connects to the uterus.
1
Female reproductive system
Ovaries
Ovaries are considered as the primary organs of the reproductive system. These secretes
two of the very essential hormones which are important for a female body in the whole process
of the reproduction (Agarwal and et.al, 2012). These involve oestrogen and progesterone. In
every cycle, egg is being matured in one of the ovaries and that egg is being filled with a specific
fluid known as “Graffian follicle”. There are fallopian tubes as well which are also considered as
the oviducts. These help in transferring the egg from the ovaries till the uterus of a female.
Sub divisions of the fallopian tubes
The oviducts are further categorised in four parts which are discussed as under:
Infundibulum
It is categorised as a funnel shaped organ which has the work of receiving the eggs near
the ovaries.
Ampulla
A huge part is present in the fallopian tubes which is considered as the ampulla's.
Isthumus
After the ampulla, there is a wider and thick wall, it is called as Isthumus.
Uterine part
This is the linkage which passes by the wall of the uterine and connects to the uterus.
1
Various parts of the Uterus:
Fundus: It is that part where the oviducts are being opened.
Cervix: It is the part for projection in the vagina.
Vagina: The area which receives the sperm at the time of intercourse.
Vulva: It is considered as a genital organ which prevents the vagina from any infection.
Male reproductive system
As the reproductive system of a female is located inside the body of the female, but in
males, it is being located externally. The reproductive structure consists of the following organs
and are discussed below:
2
Illustration 1: Reproductive system of a female
(Source: Female reproductive system, 2017)
Fundus: It is that part where the oviducts are being opened.
Cervix: It is the part for projection in the vagina.
Vagina: The area which receives the sperm at the time of intercourse.
Vulva: It is considered as a genital organ which prevents the vagina from any infection.
Male reproductive system
As the reproductive system of a female is located inside the body of the female, but in
males, it is being located externally. The reproductive structure consists of the following organs
and are discussed below:
2
Illustration 1: Reproductive system of a female
(Source: Female reproductive system, 2017)
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Penis
The organ being used in the intercourse process is termed as penis. It is composed of
three main parts which involves the root that is being connected to the stomach inside, shaft and
the glans. Glans are also termed as the head of the penis. When the men reach to the sexual
climax, sperms are being ejaculated from the penis (Carlson, 2012).
Scrotum
It is considered as a sack of skin that is being attached below the penis. Along with blood
vessels and nerves, testes are contained in the same. Special muscles in it relaxes the testicles.
Testicles
These are considered as the oval organs which are compiled in the scrotum. Usually,
there are two testes in a male reproductive system which helps in making the hormone,
testosterone and for making sperm.
2. Control of the hormones over the reproductive system
3
The organ being used in the intercourse process is termed as penis. It is composed of
three main parts which involves the root that is being connected to the stomach inside, shaft and
the glans. Glans are also termed as the head of the penis. When the men reach to the sexual
climax, sperms are being ejaculated from the penis (Carlson, 2012).
Scrotum
It is considered as a sack of skin that is being attached below the penis. Along with blood
vessels and nerves, testes are contained in the same. Special muscles in it relaxes the testicles.
Testicles
These are considered as the oval organs which are compiled in the scrotum. Usually,
there are two testes in a male reproductive system which helps in making the hormone,
testosterone and for making sperm.
2. Control of the hormones over the reproductive system
3
Source of hormone Hormone Functions
Ovaries Oestrogen It is produced by the
ovaries in the women
that are not pregnant. It
makes the egg mature.
At the time of
pregnancy, this
hormone is being
produced by the
placenta.
Pituitary gland Follicle stimulating hormone
(FSH)
Within the first half of
the menstrual cycle,
the pituitary gland
produces it (Carlson,
2012).
At the time of
pregnancy, like the
LH, it also remains
inactive.
Anterior pituitary gland
Luteinizing hormone It activates the ovaries
for the production of
progesterone and
oestrogen (Beery and
Zucker, 2011).
During pregnancy, its
levels decrease and its
operations can be
managed by human
chronic gonadotropin
(HCG).
4
Ovaries Oestrogen It is produced by the
ovaries in the women
that are not pregnant. It
makes the egg mature.
At the time of
pregnancy, this
hormone is being
produced by the
placenta.
Pituitary gland Follicle stimulating hormone
(FSH)
Within the first half of
the menstrual cycle,
the pituitary gland
produces it (Carlson,
2012).
At the time of
pregnancy, like the
LH, it also remains
inactive.
Anterior pituitary gland
Luteinizing hormone It activates the ovaries
for the production of
progesterone and
oestrogen (Beery and
Zucker, 2011).
During pregnancy, its
levels decrease and its
operations can be
managed by human
chronic gonadotropin
(HCG).
4
Ovaries and placenta Progesterone The function of this
hormone is to prepare
the uterus for
pregnancy.
During pregnancy, it
makes the lining of the
uterus thick for the egg
that is being fertilised.
3. Evaluation of the table
Method of
contraception
Evaluation advantages Evaluation
disadvantages
Final evaluation
Male condom Condoms can
be used for any
type of sex
which can be
vaginal, anal or
oral as well.
They are of
various
flavours as
well.
These can
protect the
opposite sex
from sexually
transmitted
diseases
(STDs)
A number of
people are
allergic to latex.
The allergic ones
can go for
lambskin or
some other
alternative but
they cannot be as
effective as the
latex condoms.
As they are not
that effective, it
maximizes the
risks for
pregnancy as
well.
These can
help in
preventing
the females
from getting
pregnant.
Also, they
protect them
from any type
of sexually
transmitted
diseases
(STDs).
5
hormone is to prepare
the uterus for
pregnancy.
During pregnancy, it
makes the lining of the
uterus thick for the egg
that is being fertilised.
3. Evaluation of the table
Method of
contraception
Evaluation advantages Evaluation
disadvantages
Final evaluation
Male condom Condoms can
be used for any
type of sex
which can be
vaginal, anal or
oral as well.
They are of
various
flavours as
well.
These can
protect the
opposite sex
from sexually
transmitted
diseases
(STDs)
A number of
people are
allergic to latex.
The allergic ones
can go for
lambskin or
some other
alternative but
they cannot be as
effective as the
latex condoms.
As they are not
that effective, it
maximizes the
risks for
pregnancy as
well.
These can
help in
preventing
the females
from getting
pregnant.
Also, they
protect them
from any type
of sexually
transmitted
diseases
(STDs).
5
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Along with
diseases, it also
prevents
female from
pregnancy.
Condoms can
break as well
while the
intercourse.
pill It helps in
making the
process of the
periods shorter
(Carlson,
2012).
Also, it helps
in dealing with
problems, that
females always
have at the
time of
periods, such
as mood
swings, cramps
etc.
It can have a
side effect as
well such as
nausea,
headache etc.
Tenderness of
breasts.
Also, it can
maximize the
level of the
blood pressure.
Although, it
can have its
side effects,
but can be
used as a
preventive
measure in
case of
getting
pregnant.
Intrauterine device It helps in
preventing the
conception.
Also, it is a
quite faster
process than
the other
methods used
for
Very costly
implementation.
Only professions
can insert or
remove a IUD
device.
Access to some
non-professional
may cause a
Although, it
acts as a
better
contraception
, it can be
used with a
good amount
of preventive
measures as
6
diseases, it also
prevents
female from
pregnancy.
Condoms can
break as well
while the
intercourse.
pill It helps in
making the
process of the
periods shorter
(Carlson,
2012).
Also, it helps
in dealing with
problems, that
females always
have at the
time of
periods, such
as mood
swings, cramps
etc.
It can have a
side effect as
well such as
nausea,
headache etc.
Tenderness of
breasts.
Also, it can
maximize the
level of the
blood pressure.
Although, it
can have its
side effects,
but can be
used as a
preventive
measure in
case of
getting
pregnant.
Intrauterine device It helps in
preventing the
conception.
Also, it is a
quite faster
process than
the other
methods used
for
Very costly
implementation.
Only professions
can insert or
remove a IUD
device.
Access to some
non-professional
may cause a
Although, it
acts as a
better
contraception
, it can be
used with a
good amount
of preventive
measures as
6
contraception.
Simpler and
easier to use.
higher amount of
pain and
problems.
In these devices
as well, there is a
risk of the
transmission of
sexually
transmitted
diseases (Jones
and Lopez,
2013).
Also, can spread
genital infection
in the female's
body.
there is a risk
of STDs and
other genital
infections.
Rhythm methods There is no
requirement of
any
prescription in
applying this
method (Beery
and
Zucker,2011).
In this, it is
completely
safe and secure
to have sex.
It is considered
as a natural
form of
There is a risk
for transfer of
sexually
transmitted
diseases in this
method.
After the
implementation
of this process, it
is difficult to
identify the
fertility of a
women.
This process
makes it harder
It is
considered as
a natural
method, hen
can prove
effective but
issues can
occur at the
time of
wishing the
fertility.
7
Simpler and
easier to use.
higher amount of
pain and
problems.
In these devices
as well, there is a
risk of the
transmission of
sexually
transmitted
diseases (Jones
and Lopez,
2013).
Also, can spread
genital infection
in the female's
body.
there is a risk
of STDs and
other genital
infections.
Rhythm methods There is no
requirement of
any
prescription in
applying this
method (Beery
and
Zucker,2011).
In this, it is
completely
safe and secure
to have sex.
It is considered
as a natural
form of
There is a risk
for transfer of
sexually
transmitted
diseases in this
method.
After the
implementation
of this process, it
is difficult to
identify the
fertility of a
women.
This process
makes it harder
It is
considered as
a natural
method, hen
can prove
effective but
issues can
occur at the
time of
wishing the
fertility.
7
controlling the
birth, so can be
considered as
safe.
for a sperm to
live in a female's
body. Instead
sperm can live in
a female's body
for about till
seven days.
4. Causes of the following genetic conditions
a. Hunting-ton disease
The causes are discussed as under:
A person having the Huntington's gene has two copies of it. One is the better copy
and another is faulty. Their child may develop either of the both. So, genes can act
as an essential cause of transfer (Sturrock and Leavitt, 2010).
As the human body has 46 chromosomes but the one faulty can be found on the
4th chromosome. This compile of CAF repeats which produces a variant form of
Huntington.
b. Cystic fibrosis (CF)
The causes for cystic fibrosis are described as below:
When there is some defect present in the cystic fibrosis transmembrane conductance
regulator (CFTR), it causes cystic fibrosis.
The protein produced by this gene manages the movement of water and salt in the body
of an individual, so people with CF are unable to have the well use of that protein.
5. Role of genetic counsellor
There are various kinds of genetic counsellors which includes the following:
Prenatal
Prenatal counselling is usually focused on the findings of the abnormal screenings. It is
often suggested to women who already have an affected child (Rawlins and et.al, 2016). The
procedure of the pregnancy can also be interrupted in serious cases.
Postnatal
8
birth, so can be
considered as
safe.
for a sperm to
live in a female's
body. Instead
sperm can live in
a female's body
for about till
seven days.
4. Causes of the following genetic conditions
a. Hunting-ton disease
The causes are discussed as under:
A person having the Huntington's gene has two copies of it. One is the better copy
and another is faulty. Their child may develop either of the both. So, genes can act
as an essential cause of transfer (Sturrock and Leavitt, 2010).
As the human body has 46 chromosomes but the one faulty can be found on the
4th chromosome. This compile of CAF repeats which produces a variant form of
Huntington.
b. Cystic fibrosis (CF)
The causes for cystic fibrosis are described as below:
When there is some defect present in the cystic fibrosis transmembrane conductance
regulator (CFTR), it causes cystic fibrosis.
The protein produced by this gene manages the movement of water and salt in the body
of an individual, so people with CF are unable to have the well use of that protein.
5. Role of genetic counsellor
There are various kinds of genetic counsellors which includes the following:
Prenatal
Prenatal counselling is usually focused on the findings of the abnormal screenings. It is
often suggested to women who already have an affected child (Rawlins and et.al, 2016). The
procedure of the pregnancy can also be interrupted in serious cases.
Postnatal
8
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Postnatal counselling is mentioned for those who have a family history of some diseases.
If there may be two or more than two losses of pregnancy in any case, then this could be
prescribed.
Role of genetic counsellor
A genetic counsellor is considered as an expert in this specific field. These help those
family who already have a defective child in their families. At any speciality prenatal clinics,
these counsellors can be present (Stevenson and Davison, 2016). The tests that can be carried out
by checking the sample of taken blood or tissue. Genetic testing can act as another option for
diagnosing these types of issues.
9
If there may be two or more than two losses of pregnancy in any case, then this could be
prescribed.
Role of genetic counsellor
A genetic counsellor is considered as an expert in this specific field. These help those
family who already have a defective child in their families. At any speciality prenatal clinics,
these counsellors can be present (Stevenson and Davison, 2016). The tests that can be carried out
by checking the sample of taken blood or tissue. Genetic testing can act as another option for
diagnosing these types of issues.
9
REFERENCES
Books and Journals
Agarwal, A. and et.al., 2012. The effects of oxidative stress on female reproduction: a review.
Reproductive biology and endocrinology. 10(1). p.49.
Beery, A. K. and Zucker, I., 2011. Sex bias in neuroscience and biomedical research.
Neuroscience & Biobehavioral Reviews. 35(3). pp.565-572.
Carlson, B. M., 2012. Human Embryology and Developmental Biology E-Book: with STUDENT
CONSULT Online Access. Elsevier Health Sciences.
Jones, R. E. and Lopez, K. H., 2013. Human reproductive biology. Academic Press.
Rawlins, M. D. And et.al., 2016. The prevalence of Huntington's disease. Neuroepidemiology.
46(2). pp.144-153.
Stevenson, A. C. and Davison, B. C., 2016. Genetic counselling. Elsevier.
Sturrock, A. and Leavitt, B. R., 2010. The clinical and genetic features of Huntington disease.
Journal of Geriatric Psychiatry and Neurology. 23(4). pp.243-259.
10
Books and Journals
Agarwal, A. and et.al., 2012. The effects of oxidative stress on female reproduction: a review.
Reproductive biology and endocrinology. 10(1). p.49.
Beery, A. K. and Zucker, I., 2011. Sex bias in neuroscience and biomedical research.
Neuroscience & Biobehavioral Reviews. 35(3). pp.565-572.
Carlson, B. M., 2012. Human Embryology and Developmental Biology E-Book: with STUDENT
CONSULT Online Access. Elsevier Health Sciences.
Jones, R. E. and Lopez, K. H., 2013. Human reproductive biology. Academic Press.
Rawlins, M. D. And et.al., 2016. The prevalence of Huntington's disease. Neuroepidemiology.
46(2). pp.144-153.
Stevenson, A. C. and Davison, B. C., 2016. Genetic counselling. Elsevier.
Sturrock, A. and Leavitt, B. R., 2010. The clinical and genetic features of Huntington disease.
Journal of Geriatric Psychiatry and Neurology. 23(4). pp.243-259.
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