SlideShare a Scribd company logo
GENETIC NURSING PRACTICE
BY
DR ZULKIFLU MUSAARGUNGU
DEPARTMENT OF NURSING SCIENCES,
FACULTY OF ALLIED AND HEALTH SCIENCES
USMANU DANFODIYO UNIVERSITY, SOKOTO.
A PAPER PRESENTATION FOR THE MANDATORY CONTINUING
PROFESSIONAL DEVELOPMENT PROGRAMME
(MCPDP)
Preambles
 Genetics plays an important role in the healthcare.
 In nursing;
• genetics is used to understand the biological basis of disease.
• to guide the development of treatments.
• and to inform decisions about patient care.
 This presentation will cover the application of genetics in nursing practice,
from the concept of genetics, basics of genetic inheritance to the ethical
issues in genetics.
CONCEPT OF GENETICS
The term genetics was derived from Greek word
“Genetikos” which means ‘to become’ or ‘to grow
into’. Therefore, genetics is the science of “coming
into being”.
 Gregor Johann Mendel (1822-1884)
 Was an Austrian monk, known as ‘father of modern
genetic’.
 Does the experiment in pea plant from 1856- 1863
(7 year).
 He came up with law of inheritance
• Law of Dominance
• Law of Segregation
• Law of Independent Assortment
 He came up with the law of inheritance, he stated that, physical
traits are inherited as “particles”.
 But he did not know that the “particles” were actually
chromosomes and DNA.
 Dies as an unrecognized man. His studies remain in dark for 34
years until rediscovery.
In the year 1900: three botanist from Europe realized that Mendel had studied the
heredity of specific characters as they pass from parent to offspring.
 The term “gene” was coined by Danish botanist
and pharmacist Wilhelm Johannsen in 1909,
he describe “gene” as the Mendelian units of
heredity. He also made the distinction between
the outward appearance of an individual
(phenotype) and its genetic traits (genotype)
 The word genetics was introduced in 1905 by
English biologist William Bateson, he use
the term genetics to describe the study of
heredity.
 Gene is defined as a segment of DNA
(Deoxyribonucleic Acid) which carries the
genetic information.
 Gene is the basic physical and functional unit
of heredity
 The human genome contains about 30000 –
40000 genes and each gene varies in size.
Definition of Terms
Gene
Genetic: Is the study of Heredity and Variation
of inherited character.
Heredity: tendency of offspring to resemble their
parents.
Variation: tendency of offspring to vary from
their parents.
“Genetics is the field of science that examines how
traits are passed from one generation to the next;
Blueprint of life.”
Genetic
 Allele: allele are alternative form of gene which occupy
identical loci of homologous chromosome and control the
contrasting character of same trait.
 Each allele determines a single inherited features in an
individual.
 For example – if a gene on a particular chromosomes codes for
a characteristics such as hair colour, another gene at the same
position on homologous chromosomes also codes for hair
colour.
 However, these two alleles need not to be identical: one might
produce red hair and the other might produce blonde hair.
Allele
TYPES OF ALLELE
Mono Allelic – Single allele e.g eye color
Di-Allelic – Two Allele e.g height
Multiple Alleles – E.g. Blood group, hair texture, skin color. Etc.
CATEGORIES OF ALLELE
Dominant and Recessive allele
• Dominant allele always expresses itself.
• Recessive allele expresses only in absence of dominant allele.
• Dominant allele suppresses or mask the expression of recessive
allele.
• Dominant allele usually expressed in capital letter and recessive in
small letters.
Example: • Height (trait) has two characters (tall and short) with tall
character (T) being dominant over short (t) character
 The term chromosome comes from the Greek words (chroma) for
color and (soma) for body.
 Scientists gave this name to chromosomes because they are cell
structures, or bodies, that are strongly stained by some colorful
dyes used in research.
 Chromosomes are thread-like structures located inside the nucleus
of animal and plant cells. Each chromosome is made of protein
and a single molecule of deoxyribonucleic acid (DNA).
 Passed from parents to offspring, DNA contains the specific
instructions that make each type of living creature unique.
CHROMOSOMES
 The genotype is the combination of alleles possess by an individual for a specific gene.
 E.g human eye color is controlled by one gene in particular, for which there are only 2
available alleles.
B – codes for phenotypically Brown eyes (dominant)
b – codes for phenotypically blue eyes (recessive)
 You need only 1 copy of a dominant allele for it to be expressed.
 You need 2 copies of a recessive allele for it to be expressed.
BB = Brown eyes
bb = Blue Eyes
Bb =Brown eyes
GENOTYPE
When one possess identical alleles on the maternal and paternal
chromosome, this is referred to as a homozygous genotype.
e.g. BB = homozygous dominant
e.g. bb = homozygous recessive
Having two different alleles is a heterozygous genotype.
E.g. Bb = Heterozygous
The allele for Brown eyes (B) is dominant
The allele for Blue eyes (b) is recessive
Phenotype is the physical feature/appearance of
the organism
Phenotype is the expression of genotype.
Phenotype = genotype + environmental factors
Example: • Height (trait) has two phenotypes
(tall and short) expressed by genotype (TT, Tt &
tt)
PHENOTYPE
• Homozygous: If both the member of allelic pair in
homologous chromosome are identical. e.g. tall
(TT); short (tt)
• Heterozygous: If both the member of allelic pair
in homologous chromosome are not identical. e.g.
tall (Tt)
• Hemizygous: when genes are present in only one
copy e.g. genes of X chromosome and Y
chromosome of male
Homozygous, Heterozygous and Hemizygous
 A French term Anglo-French phrase meaning "crane foot". It was probably called
this because the branching lines of the chart look like the foot of a crane.
 Definition: The basic medical pedigree is a graphic depiction of how family
members are biologically and legally related to one another from one generation
to the next.
 This branching diagram typically starts with two parents at the top and moves
down with the following generations.
 Each family member is represented by a square (male) or a circle (female).
 They are connected to each other by relationship lines.
 The member whom a family with genetic disorder is first brought to attention is
the proband or propositus, if affected may be called index case.
PEDIGREE
Symbols used in Pedigree
Relationship line
Mendelian inheritance is a set of primary statements about the way
certain characteristics (e.g. color of hair, eye, skin etc.) are transmitted
from parent to their offspring.
Mendel Law’s of Inheritance
Law of Dominance
Law of Segregation
Law of Independent Assortment
MENDELLIAN THEORY OF INHERITENCE
LAW OF DOMINANCE
This law states that in a heterozygous condition,
the allele whose characters are expressed over the
other allele is called the dominant allele and the
characters of this dominant allele are called
dominant characters.
The characters that appear in the F1 generation are
called as dominant characters.
.
LAW OF SEGREGATION
 Mendel stated that the genes normally occurs in pairs in
ordinary cells of the body and each one is derived from each
parent.
 During the formation of gametes (sex cells) the two co-
existing copies of a gene separates (segregate) from each
other.
 The resultant gamete (sperm or oocyte) receives only one of
the two alleles present in the parent.
 These alleles may behave as dominant or recessive characters.
 The law of segregation states that every individual has two
alleles of each gene and when gametes are produced, each
gamete receives one of these alleles.
 It says that during gamete production, genes for
different traits segregate independently of each
other.
 This means that offspring can have combinations of
traits that are different from either of their parents'.
 Independent assortment gives a chance for new trait
combinations to show up that could be more fit.
 This law also says that at the time of gamete and
zygote formation, the genes are independently passed
on from the parents to the offspring.
LAW OF INDEPENDENT ASSORTMENT
GENETIC DISORDERS
Most people have the concept that genetic disease must be the one which is transmitted from
one generation to next. Actually this is not totally correct.
Example:
• Huntington’s Disorder
• Hemophilia
• Parkinson’s Disorder
• Sickle Cell Anemia
• Cystic Fibrosis
• Down Syndrome
• Alzheimer’s Disorder
• Thalassemia
• Tay-Sachs Disorder
HUNGTINGTON’S DISEASE (HD)
• Is an inherited disease, it is the degeneration of
nerve cells in certain areas of the brain
• This degeneration causes uncontrolled
movements , loss of intellectual faculties,
emotional disturbance.
• The Symptoms of this disease are; Mood
Swings, irritability , depression, loss of memory
and uncontrolled movements
 Down syndrome is a genetic condition that occurs when
there is an extra copy of a specific chromosome
(chromosome 21).
 Down syndrome occurs when some or all of a person’s
cells have an extra full or partial copy of chromosome
21.
 Mothers older than 35 are more likely to give birth to a
child with Down syndrome.
 In most cases, Down syndrome is not inherited and does
not run in families. Though Down syndrome comes from
the genes themselves, this is generally due to errors
between a sperm and an egg, when the genetic
information that forms a child first combines and copies.
DOWN SYNDROME
Klinefelter’s syndrome also known as the XXY
condition, is a term used to males who have an
extra X- chromosome in most of their cells.
Turner’s syndrome is a chromosomal condition
in which the female is born with only X-
chromosome. It alters development in females. It
leads to infertility, webbed neck, skeletal
abnormalities, heart defects and kidney problems
Form of Down Syndrome;
 Parkinson’s disease is a neurological condition that
has a genetic component.
 The chances of developing Parkinson’s gets higher as
age increases.
 Parkinson occur due decrease in DOPAMINE
chemical produced in the middle part of the brain that
is responsible for organizing coordinated movements
and to send this signal to the control centers of the
brain.
PARKINSON’S DISEASE
PRACTICAL APPLICATION OF GENETICS IN NURSING
Genetic Nursing includes the following
 Client & family assessment to identify genetic risk factors. (Eg: detailed family
history & construct a pedigree)
 Planning & implementation of care during diagnosis & management of genetic
disorders.
 Information, counseling & support services to persons affected by or at risk for
genetic disorders.
 Meeting referral needs
 Long term follow up.
1.Understands genetic basis of disease
2.Early diagnosis of genetic disorders.
3.Contributes towards health promotion with genetic aspects
4.Prevention of genetic conditions
5.Management and care in genetic disorders
6.Genetic information & counseling.
7.Referral services
8.Social & ethical issues in genetics
Major Practical Applications of Genetic in Nursing
With knowledge of genetics, nurses will understand that large proportion of
total disease have genetic basis.
In addition will learn about:
 Role of genes in causation of genetic disorders & defects.
 Normal & abnormal cell division & its genetic regulation.
 Mechanism of disease inheritance from generation to next generation.
 Genetic factors are playing role in an individual’s health.
 Basic mechanisms of inheritance & transmission of chromosomes &
genes.
 Genetic education can also help nurses to understand the ethical and
legal issues related to genetic testing and research.
1. Understands genetic basis of disease
Genetic knowledge will equip nurses with;
Information about genetic risk, genetic testing and its
implications.
Interpretation of the results of genetic tests.
Awareness of the possibility of an inherited or genetic
component for a client condition.
2. Early & effective diagnosis of genetic disorders
Learning about genetics nurses, will enhance their understanding
about:
How genetics &environment interacts with individual difference.
Healthy prenatal environment will ensure minimal risk of genetic
defects among new born.
Environmental interaction of an individual is an important factor
in reference to gene or chromosomal mutation, which may have
positive or negative impact on health of an individual
3. Contributes towards health promotion with genetic aspects
Several genetic disorders can be prevented with prompt & early
diagnosis & treatment.
For example, phenylketonuria (PKU) related mental retardation
could be prevented with early new born screening & diagnosis
& diet management.
The genetic disorders can be prevented by selected interventions.
4. Prevention of Genetic Condition
Knowledge of genetics will empower the nurses to manage & care for
patients with genetic disorders in their routine health care practice by
building up their understanding about;
Genetic approaches to the therapy of genetic & complex diseases.
Care management of adults with childhood genetic disorders
Care management of persons with adult genetic disorders such as
Huntington disease.
Ways in which genetic knowledge is used in diagnosis & treatment
application
5. Management & care in genetic disorders
 Development of non-judgmental attitudes about genetic disorders.
 What information needs to be collected before providing genetic
counselling.
 Role of a nurse in delivering genetic counselling.
 Application of traditional nursing skills such as patient education,
confidentiality, & counselling about genetic information.
 The concept of non-directive counselling can be included.
6. Genetic Information & Counselling
Genetic Counseling
 Genetic counseling is an important part of genetics in nursing.
 Genetic counselors are specially trained to provide information
and support to patients and families who are considering genetic
testing.
 They help patients understand the risks and benefits of genetic
testing, and provide emotional support and guidance.
 Genetic counselors also help patients and families understand the
results of genetic tests and make informed decisions about their
health care.
 They can provide resources and referrals to other health care
professionals and support groups.
 In developing countries, there is less awareness about genetic
disorders & Genetic health care facilities.
 Nurses are the primary health care providers who can direct them to
right place for their diagnosis & management, so that genetic
information will equip nurses to provide effective referral services to
the clients
7. Referral Services
 There are several social & ethical issues, which play important role in care of
patients with genetic disorders. Therefore, study of genetics will make nurses
to build;
 An awareness of social, legal, & ethical issues related to genetics, including
effects on individuals, groups and societies, some of which are unique to
genetic conditions
8. Social & Ethical Issues in Genetics
Ethical Considerations
 The use of genetics in healthcare raises important ethical considerations.
 Nurses must be aware of the potential risks and benefits of genetic testing
and the implications for patient autonomy and privacy.
 Nurses must also be aware of the potential for discrimination based on
genetic information, and must ensure that their patients are treated with
respect and dignity.
Conclusion
Genetics is an essential part of nursing practice, and
nurses must be aware of the basics of genetic
inheritance, the technical way in genetic testing, and
the ethical considerations involved. By understanding
the application of genetics in nursing practice, nurses
can provide the best possible care for their patients.
REFERENCE
1. BRAV KAUR,RAWAT.H.C.TEXTBOOK OF ADVANCEDNURSING PRACTICE. NEWDELHI;JAYPEE
BROTHERS MEDICAL PUBLISHERS ;2015.
2. SONISAMTA .TEXTBOOK OF ADVANCED NURSING PRACTICE.NEWDELHI;JAYPEE;2014.
3. BASHEER P,KHAN Y.A CONCISE TEXTBOOK OF ADVANCED NURSING
PRACTICE.BANGALORE; EMMESS;2013
4. BACHMAN JW. GENETIC DISORDERS. INFAMILY MEDICINE 2003 (PP. 141-148). SPRINGER,
NEW YORK, NY
5. FRAZIER L, MEININGER J, LEA DH, BOERWINKLE E. GENETIC DISCOVERIES AND NURSING
IMPLICATIONS FOR COMPLEX DISEASE PREVENTION AND MANAGEMENT. JOURNAL OF
PROFESSIONAL NURSING. 2004 JUL 1;20(4):222-9.
MCPDP.pptx

More Related Content

PPTX
MCPDP copy.pptx
PPTX
Mendelian - Heredity
PPTX
Dr. hajare balaji b [genetics}
PPT
G8 Science Q4- Week 3-Patterns-of-Inheritance.ppt
PPT
Interesting Facts about Genetics
PPT
INTRODUCTION TO GENETICS AND PRINCIPLES OF BREEDING_final.ppt
PPT
heredityinheritanceandvariation-160629084046.ppt
PPTX
inheritance, genetics, and heredity.pptx
MCPDP copy.pptx
Mendelian - Heredity
Dr. hajare balaji b [genetics}
G8 Science Q4- Week 3-Patterns-of-Inheritance.ppt
Interesting Facts about Genetics
INTRODUCTION TO GENETICS AND PRINCIPLES OF BREEDING_final.ppt
heredityinheritanceandvariation-160629084046.ppt
inheritance, genetics, and heredity.pptx

Similar to MCPDP.pptx (20)

PPTX
LESSON 2- Heredity-Inheritance and Variation.pptx
PPTX
heredityinheritanceandvariation.pptxxxxxxxxxx
PPTX
WEEK 3-GENETIC INHERITANCE AND ITS TYPES
PPTX
CLASS 10 SCIENCE CHAPTER 9- HEREDITY AND EVOLUTION
PPT
Chapter 5- Heredity
PPTX
Choromosomal Theory of Inheritance in Homo Sapiens
PPTX
Genetics.pptx
PPTX
Complete Genetics
PPTX
Heredity, inheritance, and variation
PDF
PAEDIATRICS I UNIT THREE.pdfxjxjcnfnfjfj
PPTX
MOLECULAR BIOLOGY introduction for lab.pptx
DOCX
Bio chapter 5
PPT
B18 mendel genetics vocab powerpoint
PPT
Genetic basis of inheritance
PPTX
Patterns of inheritance mendelian inheritance
PDF
Heredity and evolution.pdf
PPT
G8 Science Q4- Week 3-Patterns-of-Inheritance.ppt
PPTX
Genetics by aslam
PPTX
5. Genetics in Orthodontics.pptx
PDF
PPT Intro to genetics M.6
LESSON 2- Heredity-Inheritance and Variation.pptx
heredityinheritanceandvariation.pptxxxxxxxxxx
WEEK 3-GENETIC INHERITANCE AND ITS TYPES
CLASS 10 SCIENCE CHAPTER 9- HEREDITY AND EVOLUTION
Chapter 5- Heredity
Choromosomal Theory of Inheritance in Homo Sapiens
Genetics.pptx
Complete Genetics
Heredity, inheritance, and variation
PAEDIATRICS I UNIT THREE.pdfxjxjcnfnfjfj
MOLECULAR BIOLOGY introduction for lab.pptx
Bio chapter 5
B18 mendel genetics vocab powerpoint
Genetic basis of inheritance
Patterns of inheritance mendelian inheritance
Heredity and evolution.pdf
G8 Science Q4- Week 3-Patterns-of-Inheritance.ppt
Genetics by aslam
5. Genetics in Orthodontics.pptx
PPT Intro to genetics M.6
Ad

More from Musaargungu (15)

PPTX
CODE LECTURE ON FOUNDATION OF NURSING II
PPTX
Lectures on personality disorders 123456
PPTX
kabir a m external.pptx
PPTX
06-Adolescent-Challenges.pptx
PPT
Ch1.ppt
PDF
dressingprocedureppt-210910173151.pdf
PDF
bedmaking-200622082816.pdf
PDF
bedsores-scte-221122072208-83f26323.pdf
PPTX
EDUCATION PPT.pptx
PPT
Development_ppt2.ppt
PDF
thehealthcareteam-171220091722.pdf
PDF
causesofmentaldisorders-141121074310-conversion-gate01 (1).pdf
PDF
unit-181208143535.pdf
PPTX
LYSMPHATIC SYSTEM NOTE.pptx
PPTX
SLIDES_FOR_NAMNN-2.pptx
CODE LECTURE ON FOUNDATION OF NURSING II
Lectures on personality disorders 123456
kabir a m external.pptx
06-Adolescent-Challenges.pptx
Ch1.ppt
dressingprocedureppt-210910173151.pdf
bedmaking-200622082816.pdf
bedsores-scte-221122072208-83f26323.pdf
EDUCATION PPT.pptx
Development_ppt2.ppt
thehealthcareteam-171220091722.pdf
causesofmentaldisorders-141121074310-conversion-gate01 (1).pdf
unit-181208143535.pdf
LYSMPHATIC SYSTEM NOTE.pptx
SLIDES_FOR_NAMNN-2.pptx
Ad

Recently uploaded (20)

PPTX
Pharma ospi slides which help in ospi learning
PDF
Sports Quiz easy sports quiz sports quiz
PDF
O7-L3 Supply Chain Operations - ICLT Program
PPTX
Final Presentation General Medicine 03-08-2024.pptx
PPTX
Renaissance Architecture: A Journey from Faith to Humanism
PPTX
Cell Structure & Organelles in detailed.
PDF
Complications of Minimal Access Surgery at WLH
PDF
Physiotherapy_for_Respiratory_and_Cardiac_Problems WEBBER.pdf
PPTX
Pharmacology of Heart Failure /Pharmacotherapy of CHF
PPTX
PPT- ENG7_QUARTER1_LESSON1_WEEK1. IMAGERY -DESCRIPTIONS pptx.pptx
PDF
Classroom Observation Tools for Teachers
PPTX
GDM (1) (1).pptx small presentation for students
PDF
FourierSeries-QuestionsWithAnswers(Part-A).pdf
PPTX
Introduction_to_Human_Anatomy_and_Physiology_for_B.Pharm.pptx
PDF
Saundersa Comprehensive Review for the NCLEX-RN Examination.pdf
PDF
Module 4: Burden of Disease Tutorial Slides S2 2025
PPTX
Microbial diseases, their pathogenesis and prophylaxis
PDF
VCE English Exam - Section C Student Revision Booklet
PPTX
school management -TNTEU- B.Ed., Semester II Unit 1.pptx
PDF
BÀI TẬP BỔ TRỢ 4 KỸ NĂNG TIẾNG ANH 9 GLOBAL SUCCESS - CẢ NĂM - BÁM SÁT FORM Đ...
Pharma ospi slides which help in ospi learning
Sports Quiz easy sports quiz sports quiz
O7-L3 Supply Chain Operations - ICLT Program
Final Presentation General Medicine 03-08-2024.pptx
Renaissance Architecture: A Journey from Faith to Humanism
Cell Structure & Organelles in detailed.
Complications of Minimal Access Surgery at WLH
Physiotherapy_for_Respiratory_and_Cardiac_Problems WEBBER.pdf
Pharmacology of Heart Failure /Pharmacotherapy of CHF
PPT- ENG7_QUARTER1_LESSON1_WEEK1. IMAGERY -DESCRIPTIONS pptx.pptx
Classroom Observation Tools for Teachers
GDM (1) (1).pptx small presentation for students
FourierSeries-QuestionsWithAnswers(Part-A).pdf
Introduction_to_Human_Anatomy_and_Physiology_for_B.Pharm.pptx
Saundersa Comprehensive Review for the NCLEX-RN Examination.pdf
Module 4: Burden of Disease Tutorial Slides S2 2025
Microbial diseases, their pathogenesis and prophylaxis
VCE English Exam - Section C Student Revision Booklet
school management -TNTEU- B.Ed., Semester II Unit 1.pptx
BÀI TẬP BỔ TRỢ 4 KỸ NĂNG TIẾNG ANH 9 GLOBAL SUCCESS - CẢ NĂM - BÁM SÁT FORM Đ...

MCPDP.pptx

  • 1. GENETIC NURSING PRACTICE BY DR ZULKIFLU MUSAARGUNGU DEPARTMENT OF NURSING SCIENCES, FACULTY OF ALLIED AND HEALTH SCIENCES USMANU DANFODIYO UNIVERSITY, SOKOTO. A PAPER PRESENTATION FOR THE MANDATORY CONTINUING PROFESSIONAL DEVELOPMENT PROGRAMME (MCPDP)
  • 2. Preambles  Genetics plays an important role in the healthcare.  In nursing; • genetics is used to understand the biological basis of disease. • to guide the development of treatments. • and to inform decisions about patient care.  This presentation will cover the application of genetics in nursing practice, from the concept of genetics, basics of genetic inheritance to the ethical issues in genetics.
  • 3. CONCEPT OF GENETICS The term genetics was derived from Greek word “Genetikos” which means ‘to become’ or ‘to grow into’. Therefore, genetics is the science of “coming into being”.  Gregor Johann Mendel (1822-1884)  Was an Austrian monk, known as ‘father of modern genetic’.  Does the experiment in pea plant from 1856- 1863 (7 year).
  • 4.  He came up with law of inheritance • Law of Dominance • Law of Segregation • Law of Independent Assortment  He came up with the law of inheritance, he stated that, physical traits are inherited as “particles”.  But he did not know that the “particles” were actually chromosomes and DNA.  Dies as an unrecognized man. His studies remain in dark for 34 years until rediscovery.
  • 5. In the year 1900: three botanist from Europe realized that Mendel had studied the heredity of specific characters as they pass from parent to offspring.
  • 6.  The term “gene” was coined by Danish botanist and pharmacist Wilhelm Johannsen in 1909, he describe “gene” as the Mendelian units of heredity. He also made the distinction between the outward appearance of an individual (phenotype) and its genetic traits (genotype)  The word genetics was introduced in 1905 by English biologist William Bateson, he use the term genetics to describe the study of heredity.
  • 7.  Gene is defined as a segment of DNA (Deoxyribonucleic Acid) which carries the genetic information.  Gene is the basic physical and functional unit of heredity  The human genome contains about 30000 – 40000 genes and each gene varies in size. Definition of Terms Gene
  • 8. Genetic: Is the study of Heredity and Variation of inherited character. Heredity: tendency of offspring to resemble their parents. Variation: tendency of offspring to vary from their parents. “Genetics is the field of science that examines how traits are passed from one generation to the next; Blueprint of life.” Genetic
  • 9.  Allele: allele are alternative form of gene which occupy identical loci of homologous chromosome and control the contrasting character of same trait.  Each allele determines a single inherited features in an individual.  For example – if a gene on a particular chromosomes codes for a characteristics such as hair colour, another gene at the same position on homologous chromosomes also codes for hair colour.  However, these two alleles need not to be identical: one might produce red hair and the other might produce blonde hair. Allele
  • 10. TYPES OF ALLELE Mono Allelic – Single allele e.g eye color Di-Allelic – Two Allele e.g height Multiple Alleles – E.g. Blood group, hair texture, skin color. Etc. CATEGORIES OF ALLELE Dominant and Recessive allele • Dominant allele always expresses itself. • Recessive allele expresses only in absence of dominant allele. • Dominant allele suppresses or mask the expression of recessive allele. • Dominant allele usually expressed in capital letter and recessive in small letters. Example: • Height (trait) has two characters (tall and short) with tall character (T) being dominant over short (t) character
  • 11.  The term chromosome comes from the Greek words (chroma) for color and (soma) for body.  Scientists gave this name to chromosomes because they are cell structures, or bodies, that are strongly stained by some colorful dyes used in research.  Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA).  Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique. CHROMOSOMES
  • 12.  The genotype is the combination of alleles possess by an individual for a specific gene.  E.g human eye color is controlled by one gene in particular, for which there are only 2 available alleles. B – codes for phenotypically Brown eyes (dominant) b – codes for phenotypically blue eyes (recessive)  You need only 1 copy of a dominant allele for it to be expressed.  You need 2 copies of a recessive allele for it to be expressed. BB = Brown eyes bb = Blue Eyes Bb =Brown eyes GENOTYPE
  • 13. When one possess identical alleles on the maternal and paternal chromosome, this is referred to as a homozygous genotype. e.g. BB = homozygous dominant e.g. bb = homozygous recessive Having two different alleles is a heterozygous genotype. E.g. Bb = Heterozygous The allele for Brown eyes (B) is dominant The allele for Blue eyes (b) is recessive
  • 14. Phenotype is the physical feature/appearance of the organism Phenotype is the expression of genotype. Phenotype = genotype + environmental factors Example: • Height (trait) has two phenotypes (tall and short) expressed by genotype (TT, Tt & tt) PHENOTYPE
  • 15. • Homozygous: If both the member of allelic pair in homologous chromosome are identical. e.g. tall (TT); short (tt) • Heterozygous: If both the member of allelic pair in homologous chromosome are not identical. e.g. tall (Tt) • Hemizygous: when genes are present in only one copy e.g. genes of X chromosome and Y chromosome of male Homozygous, Heterozygous and Hemizygous
  • 16.  A French term Anglo-French phrase meaning "crane foot". It was probably called this because the branching lines of the chart look like the foot of a crane.  Definition: The basic medical pedigree is a graphic depiction of how family members are biologically and legally related to one another from one generation to the next.  This branching diagram typically starts with two parents at the top and moves down with the following generations.  Each family member is represented by a square (male) or a circle (female).  They are connected to each other by relationship lines.  The member whom a family with genetic disorder is first brought to attention is the proband or propositus, if affected may be called index case. PEDIGREE
  • 17. Symbols used in Pedigree
  • 19. Mendelian inheritance is a set of primary statements about the way certain characteristics (e.g. color of hair, eye, skin etc.) are transmitted from parent to their offspring. Mendel Law’s of Inheritance Law of Dominance Law of Segregation Law of Independent Assortment MENDELLIAN THEORY OF INHERITENCE
  • 20. LAW OF DOMINANCE This law states that in a heterozygous condition, the allele whose characters are expressed over the other allele is called the dominant allele and the characters of this dominant allele are called dominant characters. The characters that appear in the F1 generation are called as dominant characters. .
  • 21. LAW OF SEGREGATION  Mendel stated that the genes normally occurs in pairs in ordinary cells of the body and each one is derived from each parent.  During the formation of gametes (sex cells) the two co- existing copies of a gene separates (segregate) from each other.  The resultant gamete (sperm or oocyte) receives only one of the two alleles present in the parent.  These alleles may behave as dominant or recessive characters.  The law of segregation states that every individual has two alleles of each gene and when gametes are produced, each gamete receives one of these alleles.
  • 22.  It says that during gamete production, genes for different traits segregate independently of each other.  This means that offspring can have combinations of traits that are different from either of their parents'.  Independent assortment gives a chance for new trait combinations to show up that could be more fit.  This law also says that at the time of gamete and zygote formation, the genes are independently passed on from the parents to the offspring. LAW OF INDEPENDENT ASSORTMENT
  • 23. GENETIC DISORDERS Most people have the concept that genetic disease must be the one which is transmitted from one generation to next. Actually this is not totally correct. Example: • Huntington’s Disorder • Hemophilia • Parkinson’s Disorder • Sickle Cell Anemia • Cystic Fibrosis • Down Syndrome • Alzheimer’s Disorder • Thalassemia • Tay-Sachs Disorder
  • 24. HUNGTINGTON’S DISEASE (HD) • Is an inherited disease, it is the degeneration of nerve cells in certain areas of the brain • This degeneration causes uncontrolled movements , loss of intellectual faculties, emotional disturbance. • The Symptoms of this disease are; Mood Swings, irritability , depression, loss of memory and uncontrolled movements
  • 25.  Down syndrome is a genetic condition that occurs when there is an extra copy of a specific chromosome (chromosome 21).  Down syndrome occurs when some or all of a person’s cells have an extra full or partial copy of chromosome 21.  Mothers older than 35 are more likely to give birth to a child with Down syndrome.  In most cases, Down syndrome is not inherited and does not run in families. Though Down syndrome comes from the genes themselves, this is generally due to errors between a sperm and an egg, when the genetic information that forms a child first combines and copies. DOWN SYNDROME
  • 26. Klinefelter’s syndrome also known as the XXY condition, is a term used to males who have an extra X- chromosome in most of their cells. Turner’s syndrome is a chromosomal condition in which the female is born with only X- chromosome. It alters development in females. It leads to infertility, webbed neck, skeletal abnormalities, heart defects and kidney problems Form of Down Syndrome;
  • 27.  Parkinson’s disease is a neurological condition that has a genetic component.  The chances of developing Parkinson’s gets higher as age increases.  Parkinson occur due decrease in DOPAMINE chemical produced in the middle part of the brain that is responsible for organizing coordinated movements and to send this signal to the control centers of the brain. PARKINSON’S DISEASE
  • 28. PRACTICAL APPLICATION OF GENETICS IN NURSING
  • 29. Genetic Nursing includes the following  Client & family assessment to identify genetic risk factors. (Eg: detailed family history & construct a pedigree)  Planning & implementation of care during diagnosis & management of genetic disorders.  Information, counseling & support services to persons affected by or at risk for genetic disorders.  Meeting referral needs  Long term follow up.
  • 30. 1.Understands genetic basis of disease 2.Early diagnosis of genetic disorders. 3.Contributes towards health promotion with genetic aspects 4.Prevention of genetic conditions 5.Management and care in genetic disorders 6.Genetic information & counseling. 7.Referral services 8.Social & ethical issues in genetics Major Practical Applications of Genetic in Nursing
  • 31. With knowledge of genetics, nurses will understand that large proportion of total disease have genetic basis. In addition will learn about:  Role of genes in causation of genetic disorders & defects.  Normal & abnormal cell division & its genetic regulation.  Mechanism of disease inheritance from generation to next generation.  Genetic factors are playing role in an individual’s health.  Basic mechanisms of inheritance & transmission of chromosomes & genes.  Genetic education can also help nurses to understand the ethical and legal issues related to genetic testing and research. 1. Understands genetic basis of disease
  • 32. Genetic knowledge will equip nurses with; Information about genetic risk, genetic testing and its implications. Interpretation of the results of genetic tests. Awareness of the possibility of an inherited or genetic component for a client condition. 2. Early & effective diagnosis of genetic disorders
  • 33. Learning about genetics nurses, will enhance their understanding about: How genetics &environment interacts with individual difference. Healthy prenatal environment will ensure minimal risk of genetic defects among new born. Environmental interaction of an individual is an important factor in reference to gene or chromosomal mutation, which may have positive or negative impact on health of an individual 3. Contributes towards health promotion with genetic aspects
  • 34. Several genetic disorders can be prevented with prompt & early diagnosis & treatment. For example, phenylketonuria (PKU) related mental retardation could be prevented with early new born screening & diagnosis & diet management. The genetic disorders can be prevented by selected interventions. 4. Prevention of Genetic Condition
  • 35. Knowledge of genetics will empower the nurses to manage & care for patients with genetic disorders in their routine health care practice by building up their understanding about; Genetic approaches to the therapy of genetic & complex diseases. Care management of adults with childhood genetic disorders Care management of persons with adult genetic disorders such as Huntington disease. Ways in which genetic knowledge is used in diagnosis & treatment application 5. Management & care in genetic disorders
  • 36.  Development of non-judgmental attitudes about genetic disorders.  What information needs to be collected before providing genetic counselling.  Role of a nurse in delivering genetic counselling.  Application of traditional nursing skills such as patient education, confidentiality, & counselling about genetic information.  The concept of non-directive counselling can be included. 6. Genetic Information & Counselling
  • 37. Genetic Counseling  Genetic counseling is an important part of genetics in nursing.  Genetic counselors are specially trained to provide information and support to patients and families who are considering genetic testing.  They help patients understand the risks and benefits of genetic testing, and provide emotional support and guidance.  Genetic counselors also help patients and families understand the results of genetic tests and make informed decisions about their health care.  They can provide resources and referrals to other health care professionals and support groups.
  • 38.  In developing countries, there is less awareness about genetic disorders & Genetic health care facilities.  Nurses are the primary health care providers who can direct them to right place for their diagnosis & management, so that genetic information will equip nurses to provide effective referral services to the clients 7. Referral Services
  • 39.  There are several social & ethical issues, which play important role in care of patients with genetic disorders. Therefore, study of genetics will make nurses to build;  An awareness of social, legal, & ethical issues related to genetics, including effects on individuals, groups and societies, some of which are unique to genetic conditions 8. Social & Ethical Issues in Genetics
  • 40. Ethical Considerations  The use of genetics in healthcare raises important ethical considerations.  Nurses must be aware of the potential risks and benefits of genetic testing and the implications for patient autonomy and privacy.  Nurses must also be aware of the potential for discrimination based on genetic information, and must ensure that their patients are treated with respect and dignity.
  • 41. Conclusion Genetics is an essential part of nursing practice, and nurses must be aware of the basics of genetic inheritance, the technical way in genetic testing, and the ethical considerations involved. By understanding the application of genetics in nursing practice, nurses can provide the best possible care for their patients.
  • 42. REFERENCE 1. BRAV KAUR,RAWAT.H.C.TEXTBOOK OF ADVANCEDNURSING PRACTICE. NEWDELHI;JAYPEE BROTHERS MEDICAL PUBLISHERS ;2015. 2. SONISAMTA .TEXTBOOK OF ADVANCED NURSING PRACTICE.NEWDELHI;JAYPEE;2014. 3. BASHEER P,KHAN Y.A CONCISE TEXTBOOK OF ADVANCED NURSING PRACTICE.BANGALORE; EMMESS;2013 4. BACHMAN JW. GENETIC DISORDERS. INFAMILY MEDICINE 2003 (PP. 141-148). SPRINGER, NEW YORK, NY 5. FRAZIER L, MEININGER J, LEA DH, BOERWINKLE E. GENETIC DISCOVERIES AND NURSING IMPLICATIONS FOR COMPLEX DISEASE PREVENTION AND MANAGEMENT. JOURNAL OF PROFESSIONAL NURSING. 2004 JUL 1;20(4):222-9.