this topic is used for genetics in nursing

1. PRACTICAL APPLICATIONS
OF GENETICS IN NURSING

2. SCOPES
All disease are now recognized to have a genetic
component.
Nursing practice influenced by recent advances in genetic
knowledge and technology.
Provide education about hereditary risk, genetic testing
and manage risk for genetic disease.
Testing for susceptibility genes(e.g cancer) it makes easy
role for nurses to identification and management of risk
disease.
Genetic knowledge application in nursing is limitless.

3. IMPORTANCE OF GENETICS IN NURSING
EDUCATION

4.  It helps nursing students to making assessment of the diseases and
preparation of family pedigree and enhance there knowledge on genetics.
 It will provide information about the common inherited genetic disorders.
E.g cystic fibrosis, Down syndrome, sickle cell anaemia. In some cases gene
therapy holds promise for future treatment.
 It provides information about genetic contributions to common and complex
conditions such as breast cancer.
 It provides the understanding about care and management of childhood and
adulthood genetic disorders.
 Knowledge on genetics helps in prediction of genetic risk.
 It provides information about genetic testing and screening and the
implication both positive and negative; how to interpret the result.

5.  With the knowledge of genetics one can be aware of social, legal and
ethical issues related to genetics.
 One became aware about genotype or genetic disorder in terms of social
issue, confidentiality, freedom of choice, risk in terms of insurance.
 One gets the knowledge that response to drugs used in therapy are at least
in part genetically determined.

6. IMPACT OF
GENETIC
CONDITION
ON FAMILIES

7. Psycholog
ical
Impact
Financial
Impact
Social
Impact

8. 1. Psychological Impact
Mental Trauma
Depression regarding future of the child
Feeling of insecurity and of inferiority complex in mind
Feeling of burden on family
Fear of leaking the truth that disease is hereditary
Fear of inheritance of trait if person is married

9. 2. Social Impact
Face problem with
peers/playmates
Child may not
adjust ownself in
school
Person may not
complete his
education and get
a suitable job.
There may have
marital problems
Affected person
may develop a
social phobia

10. 3. Financial Impact
Disorder child becomes a
financial burden on the family.
Employers may expel from
job if they come to know
about genetic disorder.
Person may face problem if
the insurance companies
comes to know.

14. INTRODUCTION
• A Chromosomes is a DNA molecule with part or all of the genetic
material (genome) of an organism.
• It was first described by E. Starsburger(1875) as thread like
structure that appear during cell division.
• In early prophase of mitosis, they become visible as duplicated
threads that are held together at one point called centromere.
• In metaphase they condence into duplicated short and thick rod
like structures called chromatids.
• In anaphase they again appear as single thread due to separation
of their chromatids.
• They again elongate during telophase, giving a beaded appearance
in interphase. Terminal ends of chromosomes are unique called
telomeres.

16. Structure of chromosome
and DNA

18. STRUCTURE OF CENTROMERE
Centromere is the region where sister chromatids are
held together tightly. The centromere region contains the
kinetochore, which is responsible for attaching a
chromosome to the mitotic spindle. The centromere is often
surrounded by heterochromatin .

19. SEX DETERMINATION
• In most animals including human beings, individuals normally exhibit one of
the two sex phenotypes- Male and Female.
• The mechanism of determination of male and female individuals in a species
is called as sex determination.
• Sex determination in humans is of XX- XY type.
• Sex chromosomes in female are XX and those in males are XY. The remaining
22 pairs of chromosomes are called autosomes.
• Female gametes(OVA) are of one type (Homogametic), all carrying 22
autosomes and one X chromosome.
• Male gametes are of two types (Heterogametes), half carrying the X
chromosome determine femaleness, while the other half carrying the Y
chromosome determine maleness.

21. CHROMOSOMAL
ABERRATION

22. Cytogenetics
o Karyotype – microscopic examination of
chromosome
Main feature to identify and classify chromosomes
1. Size
2. Location of the centromere
3. Banding patterns

23. Chromosomal Aberration
o is substantial changes in
chromosome structure
o typically affect multiple
genes (loci)
o due to error in cell division
(non-disjunction of
chromosomes and
chromatids), maternal age
or environment

25. Structural Abnormalities
Deletion
Duplication
Inversion
Translocation
Amount of genetic
information in the
chromosome can
change.
The genetic material
remains the same but
it is rearrange.

27. Deletions
• Abnormalities in which a portion of
chromatin from a single chromosome is
lost are called deletions.

28. Cri-du-chat Syndrome
o High-pitched cry
o intellectual disability
o delayed development
o small head size
o low birth weight
o weak muscle tone in
infant

29. DiGeorge Syndrome
o deletion in long arm of
chromosome #22
o congenital heart disease
o Cyanosis
o learning difficulties
o psychiatric disorders

30. Angelman Syndrome
o deletion in chromosome
#15
o uncontrolled laughter
o no speech development

31. Duplications
• Duplications are unbalanced rearrangements
that result in partial trisomy.
•Duplications are believed to
result primarily from
unequal crossing over
especially in regions of
the genome where repeat
sequences are found.

32. Translocations
• Translocations involve breaks in two different
chromosomes with an exchange of segments.
In humans, there are two major types of
translocation:
• Reciprocal translocations-: in which there is no
visual loss of chromatin
• Robertsonian translocations-: in which the long
arms of two acrocentric chromosomes are joined
with loss of the two short arms.

34. Inversions
• Inversions are formed by two breaks in the
same chromosome with exchange of the two
ends.
Types-:
• Pericentric Inversions
• Paracentric Inversions

35. Paracentric-
chromosome is
formed when
both breaks
occur in the
same arm and,
therefore, the
centromere is
not included
in the inverted
segment
Pericentric -
chromosome in
which one
break occurs in
each arm of the
chromosome
and, thus, the
centromere is
included in the
inverted
segment

36. Sex Chromosome Aneuploidies
45,X (Turner syndrome)
Features of Turner syndrome present in the
 newborn include redundant neck skin and
peripheral lymphoedema
 Congenital heart disease
 There is an increased risk of
 adrenal anomalies, hypertension, autoimmune,
thyroid disease, and obesity.

38. Klinefelter syndrome
• 47,XXY
• is the most common cause of hypogonadism
and male infertility, accounting for about 10% of
infertile men.
http://www.klinefelters.org/links.htm

40. o Aneuploidy of sex
chromosome
o Aggressive due to high
level of testosterone
(prone to violent wife
beating)
o Adult male could be
more impulsive and
emotionally immature
Jacob Syndrome – 47, XYY
“How to tell if your
child is a SERIAL
KILLER?”

41. Autosomal Aneuploidies
Down syndrome (trisomy 21)
 Dysmorphic facial appearance,
 with a flattened facial profile
 flattened nasal bridge
 protruding tongue.

42. Patau’s Syndrome - Trisomy 13
o Severe intellectual
disability
o Physical abnormalities in
in many parts of the
body
o Heart defects, brain and
spinal cord abnormalities

43. THANK YOU…..