MODULE 1: Genetics Flashcards
Basic units of heredity that determine both the physical and cognitive characteristics of people
Genes
Composed of segments of DNA, they are woven into strands into the nucleus of all the body cells to form the chromosomes
Genes
Type of cell division that occurs in non reproductive cells
Mitosis
Mitosis
a. Produced exact copies of the parent cell
b. Results in 2 identical daughter cells
Cell division that occurs in reproductive cells or gametes
Meiosis
Results in 4 sex cells
Meiosis
Produces egg and sperm cells with half the genetic material of the parent cell
Meiosis
23 chromosomes
Haploid
Chromosome from the gametes (egg and sperm cells)
Haploid
46 chromosomes
Diploid
22 homologous autosomal pairs + 1 pair sex chromosomes
Diploid
Sex is determined by 2 sex chromosomes
a. XX
b. XY
XX chromosomes
Female
XY chromosomes
Male
Cellular Aberration indicates
a. a body cell that has been somehow changed
b. Lumipat yung part ng chromosome #1 sa ibang chromosome, kahit paa lang ng chromosome, this will result in cellular aberration
Packaged DNA indicates
Highly organized and compact structure of DNA within a cell, where it is wound around proteins like histones to form chromatin and further condensed into chromosomes to efficiently fit within the nucleus
Sequence of Packaged DNA
Cell, nucleus, chromosomes, DNA, gene
Is the study of chromosomes by light microscopy and the way cellular aberrations are identified
Cytogenetics
Complete sequence of genes present to about
50,000 - 100,000
Complete sequence of genes present (about 50000-100,000)
Genome
Normal genome is abbreviated as
a. 46xx
b. 46xy
47 Chromosomes indicates
Genetic disorder
45 chromosomes indicates
Genetic disorder
Genotype means
a. Actual gene composition
b. Genetic makeup of an individual
Phenotype mean
a. A person’s phenotype refers to his or her outward appearance o the expressions of genes
b. Are the physical traits and characteristic of an individual and are influenced by their genotype and the environment
Mendelian Inheritance was founded by
Gregor Mendel
Patterns in Mendelian Inheritance
a. dominant
b. recessive
Field of Biology that studies how characteristics (traits) are passed from parent to child
Genetics
Father of Genetics
Gregor Mendel
Gregor Mendel studied
Peas
2 types of genes when combined
a. homozygous
b. heterozygous
with 2 health genes from mother and father
Homozygous
1 gene is healthy, 1 gene is unhealthy
Heterozygous
Anywhere of 1–22
chromosomes
Autosomal disorder
Sex chromosome problem
X-linked disorder
No signs and symptoms but carrier
recessive
with manifestations and carrier
dominant
Autosomal recessive inheritance; Dad is a carrier, Mum is a carrier
a. All boys and girls requires 2 mutated autosomal gene to have the condition
b. Acquiring only 1 mutated gene for both boys and girls indicates only a carrier
c. 75 % of children don’t have condition
d. 25% of children have the condition
Autosomal Dominant Inheritance Pattern; Dad has the condition, Mum does not have the condition
a. Dominant - with manifestations and carrier
b. All boys and girls requires only 1 mutated autosomal gene to have the condition
c. 50% of children do not have the condition
d. 50% of children have the condition
X-Linked recessive inheritance
a. All boys requires only 1 mutated X chromosome to have the condition
b. All girls requires 2 mutated X chromosome to have the condition; 1 from father and mother
c. 1 mutated X gene for girls indicates as a carrier (no condition)
X-Linked recessive inheritance; Dad has the condition, mother does not have the condition
a. 2 / All girls would just be carrier since there is only 1 mutated X gene from the father, and no mutated X gene from the mother
b. 2 / All boys won’t be carriers since X gene is always carried first from mother
X-Linked recessive inheritance; Dad does not have the condition, mother is a carrier
a. 1 boy does not have the condition since the X gene is always carried first from mother. boy does not have the condition (not a carrier)
b. 1 boy have the condition since the other X gene is always carried first from the mother. boy has condition
c. 1 girl does not have the condition since the one unmutated X gene was combined from the father’s unmutated single X gene. girl does not have condition (not a carrier)
d. 1 girl does not have the condition but is a carrier since the mutated gene from the mother was combined from the father’s unmutated single X gene. girl is carrier (no condition)
X-Linked Dominant Inheritance
a. All boys requires only 1 mutated X chromosome to have the condition
b. All girls requires only 1 mutated X chromosome to have the condition; 1 from father or mother
X-Linked Dominant Inheritance; Dad has the condition, mother does not have the condition
a. 2 / All boys does not have the condition since X gene is always carried first from the mother
b. 2 / All girls have the condition since the mutated X gene from the father is combined from the X of the mother
X-Linked Dominant Inheritance; Dad does not have the condition, mother has the condition
a. 1 boy does not have the condition since since X gene is always carried first from mother
b. 1 boy have the condition since the other mutated X gene is carried first from the mother
c. 1 girl does not have the condition / carrier since the unmutated X gene is combined form the father’s X gene
d. 1 girl has the condition since the other mutated X gene was combined from the father’s X gene.
Refers to the genetic pattern in which multiple genes, often in combination with environmental factors, contribute to the development of a trait or condition
Multifactorial Inheritance
Multifactorial Inheritance
a. Multiple genes
b. Interaction
c. Multiple environmental factors
Chromosomal Abnormalities
A Cytogenetic
What nondisjunction abnormalities mean
a. Uneven cellular division during meiosis
b. Failure of homologous chromosomes to separate properly
c. If it is affected depends on the phenotype and alleles
A portion of chromosome is deleted
Deletion Abnormalities
What Translocation Abnormalities mean
a. Structural abnormalities
b. A portion of one chromosome is transferred to another chromosome
Genetics
a. Study of the way such disorders occur
b. e.g. Cytogenetics, Mendelian genetics, Population genetics
c. Commonly used is mendelian genetics
Genetics
a. Mendelian Genetics
b. Cytogenetics
c. Molecular Genetics
d. Genomic Medicine
e. Microbial Genetics
f. Population Genetics
g. Plant & Animal Genetics
Mendelian Genetics
a. Gregor Mendel
b. Investigates family patterns of inheritance
Cytogenetics
Uses techniques of cytology and microscopy to study chromosomes and their relationships to hereditary traits
Molecular genetics
Uses biochemistry to study structure and function of DNA
Genomic Medicine
Treatment of genetic disease through an understanding of the human genome
Provide an opportunity for patient to understand and incorporate genetics information to make informed decision
Genetic Counseling
Increase the family’s understanding about
a. a hereditary disease(s)
b. The risks assessments and occurrence
c. Risks and benefits of confirmatory
d. Disease management
e. And other available options
Additionally in counseling
a. Further explains results of testing related to
hereditary diseases
b. Identify with the individual and family the
psychosocial tools required to adjust to potential
outcomes and reduce the family’s anxiety
c. The strategies to achieve these outcomes vary
within and across countries
Genetic Counselors
a. Healthcare professionals who are trained in medical
genetics and psychosocial counseling
b. With specialized training in psychosocial counseling
of patients and members of their families with risks
for genetic disorders
c. They provide genetic counseling which involves
data gathering of family history information and
assessment
Genetic Counselors
a. Work closely with the clinical/medical genetics
b. Works also with a team of other health care
provides (social workers, nurses, nutritionists, and
other specialized medical professionals) to provide
genetic counseling and support in
Works also with a team of other health care
provides (social workers, nurses, nutritionists, and
other specialized medical professionals) to provide
genetic counseling and support in:
a. Pediatric
b. Metabolic
c. Cancer
d. Prenatal
e. eurology
f. cardiovascular
g. Various high risk speciality clinics
Medical Geneticists
Provides the clinical diagnosis and management of
a patient and other medical specialists
(perinatologists, medical oncologists, neurologists,
etc.) in providing genetic counseling for patients and their families who are known or suspected to have a
hereditary condition
there is an urgent need to increase availability of
qualified _ _ across the globe
Genetic counselors
Genetic counselor to population ration in the philippines is
1:16,390,000
Clinical geneticist to population ratio is
1:10,930,000
(PSA: 2016)
There is an increasing demand for genetic counseling
services in the country due to
a. Expansion of the Philippine Newborn Screening Program
b. Various public health genetics programs, including
the Birth Defects Surveillance Project, Telegenetic
Referral System and the establishment of the
Philippine Genome Center
Roles of Genetic Counselor PART 1
a. Patient and family medical history taking
b. Interpretation of family and medical histories
c. Risk assessment and counseling
d. Education about inheritance, testing, management,
prevention, resources and research
Roles of Genetic Counselor PART 2
a. Counseling to promote informed choices and
adaptation to the risk or condition
b. Provision of psychosocial support to patients and
their family members
c. Genetic counseling services are primarily available
in government tertiary level facilities but there are
plans to improve access to genetic counseling
services in the periphery through the continuity
clinics attached to the National Newborn Screen
Program
MS Genetic Counseling
a. A two-year degree program that prepares students
to become competent genetic counselors
b. Offered by the University of the Philippines College
of Medicine Dept. of Pediatrics
Other Roles of after graduating Genetic Counseling
a. Manage patient registries
b. Organize and mobilize patients to form support
groups
c. Serve as educators to other health professionals
d. Participate (or lead) in research studies
e. Manage genetic services programs
f. Participate in the formulation of clinical genetic
counseling practice guidelines
Employee opportunities after graduating MS Genetic Counseling
a. Newborn Screening Centers
b. Continuity clinics located strategically nationwide
c. Speciality clinics in either government or private
healthcare institutions
Roles of Nurses
a. Assess risk
b. Support and advocate
c. Explain test results
d. Facilitate decision making
e. Provide education
Nursing Process: Assessment
a. Detailed family history (3 generations)
b. Physical examination: both parents and any
affected children
c. Referral to the multidisciplinary health care team
Nursing Process: Diagnosis
a. Decisional conflict related to testing for an
untreatable genetic disorder
b. Fear related to outcome of genetic screening tests
c. Situational low self-esteem related to inheritance
pattern of the family’s inherited disorder
d. Knowledge deficit related to inheritance pattern of
the family’s inherited disorder
e. Health-seeking behaviors related to potential for
genetic transmission of disease
f. Altered sexuality pattern related to fear of
conceiving child with genetic disorder
Nursing Process: Intervention
a. Management of signs and symptoms specific to the
disease (independent and dependent nursing
functions)
b. Health education
c. Counseling and support
How to provide psychosocial support
a. Assessing for supportive needs of parents
b. Listening to them without compelling them to talk
c. Comforting them and acknowledging their concerns
d. Helping them to obtain further information by giving
them educational resources or directing them to
reputable online sources and
e. Referring them to appropriate specialty as needed
Support Groups in the Philippines
a. Share coping strategies
b. Feel more empowered and have a sense
of community
c. Provide sympathetic understanding and
establishing social networks
Types of Support Groups
a. self - help support group
b. professionally operated support group
c. advocacy group
Self-help support group
Fully organized and managed by its members, who
are commonly made-up volunteers and have
personal experience in the subject of the group’s
focus
Professionally Operated Support Groups
Facilitated by professionals who most often do not
share the problem of the members, such as social
workers, psychologists, or members of the clergy
Advocacy Groups
Group of people who does not necessarily share
the same issues but wanted to advocate or promote
the issues by concerns groups
Function of Support Groups
a. Emotional Support
b. Educational Support
c. Social Support
d. Research Support
Emotional Support
a. Provide on-going support
b. Help in time of crisis
c. Reinforce positive coping
behaviors
d. Help focus anger and use its
energy in positive ways
e. Give an opportunity to relieve loneliness and form new friendships
Educational Support
a. Share information, ideas and
resources with fellow parents,
between families, health care
providers
b. Provide training for parents to
increase skills
c. Help in dealing with educational,
medical and other service
agencies
Social Support
a. Promote social interaction
b. Reduce or eliminate
stigmatization
c. Opportunity to learn from other
families and other support
groups
d. Opportunity to network with
other support groups, advocacy groups, foundations for financial
assistance and
e. Empowerment
Research Support
Encourage research (as a
participant or by raising money
for research)
Support
a. Patients differ in the type and amount of support
that they need
b. Extend genuine help where they need it
c. Encourage and respond to the patient’s emotional
needs
d. Patient autonomy must be respected
e. Recognize that patients are resilient
f. Use of patient-centered language
Patients differ in the type and amount of support
that they need
Providing additional resources
(educational and supportive)
Empowerment
a. Occurs when individuals maximize their ability to
function and develop their inner strength
b. This goal is achieved in part by
This goal is achieved in part by
a. Discussing what patients wish to discuss
b. Respecting patient’s point of view
c. Enabling informed actions and decisions
