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ncm 107 theory - genetics

Genetics
– is the study of ways genetic disorder
occur.
- The study of heredity and the
variation of inherited characteristics
Genetic Counseling
- Is a communication process by
which the family is supplied with the
information necessary to make
informed decision about their unborn
child
- It provides information about how
genetic conditions might affect you
and your family
Genetic disorders
- Also referred as Inherited disorders
- Disorders that can be passed from
one generation to the next
- Result from a disorder in gene or
chromosome structure
Chromosome
- Several, small, complete, dark
staining, and more or less rod
shaped that appear in the nucleus of
the cells
- Carries all hereditary material on
tightly coiled strands of DNA
Deoxyribonucleic Acid (DNA)
- double stranded helix
- Blueprint of life
- Woven into strands to form the
chromosome
Allele
- Alternate forms of the same gene
from a sperm and an ovum
- 2 like genes for every trait; excluding
sex chromosome s

Sex cells
- Mature reproductive cell produced by
meiosis, with only half the number of Genotype
chromosomes present in the body - Refers to the actual gene
cells; 23 chromosomes (haploid); composition
Reduction division - RR Rr rr
- Homozygous, heterozygous
Somatic cells
- Body cells containing 46 chromones Phenotype
(diploid) - Refers to the outward appearance or
- Multiplies by mitosis the expression of genes
- PMAT - Red Pink White
- Normal wings, wrinkled wings
Genome
- The entire complement of genes Dominant Gene
carried by a cell - The allele that produces an effect
- Normal complete human genome 46 regardless of the state of the
XX or 46 XY corresponding allele

Recessive Gene
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- Non-dominant one that produces an
effect only when it is transmitted by
both parents MONOHYBRID CROSS

Homozygous
- Having 2 like genes, example, AA,
aa

Heterozygous
- Having 2 different genes, example:
Aa

BB = homozygous dominant
Bb = heterozygous
bb = homozygous recessive

Carrier DIHYBRID CROSS

- An individual who is heterozygous for
the abnormal gene and clinically
normal. Example: Hd

- H= dominant health gene

- d= disease gene

Trisomy
- abnormality in which there are 3
copies instead of 2

Monosomy
- presence of only1 chromosome DOMINANCE RELATIONS
Aneuploidy 1. Complete Dominance
- refers to numerical chromosome - The dominant allele completely mask
error resulting to major the recessive one
developmental defects
- are incompatible with life

* phenotype cannot distinguish genetic

composition of a person = microscope*

Gregor Mendel – father of modern genetics

- rule of probability
- Punnett Square
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2.INCOMPLETE DOMINANCE
50% of the children will
- neither allele appears to mask the other be like the father and the
completely. 50% will be like the
mother

3. CODOMINANCE
- both alleles are fully functional and
express themselves individual when in the
heterozygous condition.
- ex: Blood type
% Genot Phenot
CC 25% Homozygous Curly
dominant
curly
Cs 50% Heterozygous Curly
(1 dominant
& 1
recessive)
POSSIBLE INHERITANCE OF HAIR TYPE ss 25% Homozygous Straight
C- curly (dominant) recessive
S- straight (recessive) straight

100% of the children AUTOSOMAL DOMINANT DISORDER

will have a curly hair
with a recessive of ◘ h- healthy gene
straight hair D – disease gene
(dominant)
hD- disease
50% of the children will
have a curly hair and 50% chance of child
50% will have straight being disease and
hair carrier free
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ncm 107 theory - genetics

50% chance of a child being born with the • also referred as brittle
disease bone disease
• characterized by
◘ h= healthy gene excessive fractures and
D= disease gene bone deformity
(Dominant)
hD or Dh = disease
DD = incompatible
with life 4. MARFAN SYNDROME
•disorder of the
25% chance that a child is disease and connective tissue that
carrier- free affects the skeletal and
25% chance of a child being homozygous cardiovascular systems
dominant d/o gene • caused by defects in
50% chance of a child being born with the the fibrillin-1 gene, which
disease like the parents serves as a building
block for elastic tissue
• characterized by tall
AUTOSOMAL DOMINANT DISORDER and thin body structures,
slender fingers,
1. HUNTINGTON’S DISEASE long arms and legs,
• chronic and progressive affectation of the curvature of the
nervous system spine
• characterized by a
progressive involuntary
choreiform movement and
dementia
• clinical feature: chorea
(rapid jerky, involuntary, 5. WAARDENBURG SYNDROME
purposeless movements), • group of genetic conditions that can cause
intellectual decline, hearing loss and changes in the colors of
personality changes the hair, skin and eyes

2. Fascioscapulohumeral Muscular
Dystrophy AUTOSOMAL RECESSIVE DISORDER
• disorder characterized by muscle ◘ H = healthy gene
weakness and wasting d= disease gene
• this condition gets its name from the (recessive)
muscles that are affected most often: those Hd or dH= carrier
of the face (fascio), around the shoulder dd= disease
blades (scapula), and in the upper arms
(humeral) 25% chance that a child is born
homozygous recessive with d/o
25% chance of a child being disease and
carrier free
3. OSTEOGENESIS IMPERFECTA
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ncm 107 theory - genetics

50% chance of a child being born free from 1. CYSTIC
disease but carrier like the parents FIBROSIS
• most fetal
◘ H = healthy gene autosomal recessive
d= disease gene (recessive) disease
Hd or dH = carrier • affects both
dd= disease exocrine and
endocrine glands that
50% chance of child being produce multi-system
disease and carrier free involvement
50% chance of a child being born free from • clinical manifestation: productive cough,
disease but carrier like the mother wheezing, pancreatic insufficiency,
recurrent abdominal pain, biliary cirrhosis,
◘ H = healthy gene vitamin deficiency, male and female
d = disease gene infertility
(recessive) • organs affected: sinuses, lungs, skin, liver,
Hd or dH = carrier pancreas, intestines, reproductive organs
dd= disease
100% chance of a child being born free 2. ALBINISM
from disease but would carry a recessive • total absence of pigment
gene melanin
• clinical features: light skin
or changes in skin color,
◘ H= healthy gene very white to brown hair,
d- disease gene (recessive) very light blue to brown eye
Hd or dH – carrier color that may appear red in some light and
dd- disease may change with age, sensitivity to sun
exposure and increased risk of developing
50% chance that a child would have the skin cancer
disorder like the mother
50% chance of child born free from disease 3. TAY SACH’S DISEASE
but would carry a recessive gene, like the • caused by the absence
father of an enzyme that helps
break down fatty
◘ H- healthy gene substances. These fatty
d- disease gene (recessive) substances, called
Hd or dH – carrier gangliosides, build up to
dd= disease toxic levels in the child’s
brain and affect the
100% chance that the child function of the nerve cells
would have the disorder, like the parents • clinical features: loss of motor skills,
seizures, vision loss

4. ADRENOGENITAL
SYNDROME
ABNORMAL RECESSIVE DISORDER • enlargement of the
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adrenal glands resulting primarily from 50% chance that a male child and
excessive secretion of androgenic 50% that a female child would manifest the
hormones by the adrenal cortex disorder
• masculinization in woman, feminization in
men or premature sexual development in 1. X- LINKED
children HYPOPHOSPHATEMIA
• disorder characterized by
low levels of phosphate in
5. PHENYLKETONURIA the blood
• inherited disorder that • clinical features: bowed or
increases the levels of a bent legs, short stature,
substance called bone pain, and severe
phenylalanine in the blood dental pain
• results in CNS damage
from toxic levels of 2. RETT SYNDROME
phenylalanine • a neurological and
• clinical features: musty breath and urine development disorder that
odor, seizure, skin rashes, blue eyes, affects the way the brain
microcephaly develops, causing a
progressive loss of motor
skills and speech
6. GALACTOSEMIA • clinical features: loss of
• disorder that affects speech, purposeful use of
how the body hands of hands and muscle
processes a simple tone, gait disturbance, breathing issues,
sugar called galactose slowed growth of head, feet and hands

7. LIMB – GIRDLE
MUSCULAR DYSTROPHY 3. ALPORT SYNDROME
• a group of diseases • a genetic condition
that causes weakness characterized by kidney
and wasting of the disease, hearing loss, and
muscles in the arms eye abnormalities.
and legs
• the muscles most
affected are those
closes to the body,
specifically the muscles of the shoulders,
upper arms, pelvic area, and thighs
X- LINKED RECESSIVE DISORDER
X- LINKED DOMINANT DISORDER
◘ x= defective gene
X= defective gene xx= carrier
Xx = disease state xy = disease state
Xy = disease state
50% chance that a male
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child will manifest the disease large prominent ears, strabismus, highly
50% chance that a female child will carry arched palette, hypotonia
the disease gene

◘ x = defective gene 4. DUCHENNE

xx= carrier MUSCULAR
xy = disease state DYSTROPHY
xy = normal state • a disorder characterized
by progressive muscle
100% that a daughter will degeneration and
have the sex-linked weakness due to the
recessive gene and they are carriers of the alterations of a protein
disease. called dystrophin that helps keep muscle
cells intact.
1. HEMOPHILIA A & B
• hemophilia A / Classic
hemophilia or Factor VIII
Deficiency NUMERICAL / NON-DISJUNCTION
• Hemophilia B/ Christmas ABNORMALITIES
Disease or Factor IX
Deficiency 1. POLYPLOIDY
• a bleeding disorder • multiplies of the
resulting from congenital deficiency haploid chromosome
dysfunction number
• absence of specific coagulation protein • condition in which a
factors normally diploid cell or
organism acquires one
or more additional sets
2. COLOR BLINDNESS of chromosomes
• also known as color
deficiency 2. ANEUPLOIDY
• inability to distinguish the • extra or missing
difference between certain chromosomes
colors • a human cell having 45
or 47 chromosomes
instead of the unusual
3. FRAGILE X SYNDROME 46
• a genetic condition that
causes a range of A. AUTOSOMAL ANEUPLOIDY
developmental problems • trisomy 21
including learning • trisomy 18
disabilities and cognitive • trisomy 13
impairment
• clinical features: broad,
B. SEX CHROMOSOME
forehead, elongated face,
ANEUPLOIDY
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• turner syndrome
• Klinefelter syndrome
• 47, XXX Females B1. TURNER
• 47, XYY Males SYNDROME
• also known as Gonadal
Dysgenesis or 45X0
• clinical feature: shrot in
A1. TRISOMY 21 stature, streak ovaries,
• also known as Down sterile, absence of pubic
syndrome or 47XX21 / hair, webbed and short
47XY21 neck, sterile
• frequent occurring
chromosomal disorder
• clinical features: nose is
broad, flat, Brushfield B2. KLINEFELTER
spots (white specks on iris), protruding SYNDROME
tongue, short neck, low-set ears, poor • 47XXY
muscle tone, short and thick fingers, • males with extra X
peculiar crease on palms. chromosomes
• clinical features:
gynecomastia, failure of secondary sex
A2. TRISOMY 18 characteristics to develop at puberty, small
• also known as Edwards’ testes, infertile
Syndrome or 47XX18 /
47XY18 B3. XXX Females
• clinical features: • tall for their families, slight reduction in IQ,
severely cognitively normal fertility
challenged, SGA, low set
ears, small jaw, congenital heart defects B4. XYY Males
(CHD), misshapen fingers, rocker-bottom • taller than average but have a normal
feet phenotype, ADHD
• can’t survive beyond infancy

A3. TRISOMY 13 STRUCTURAL ABNORMALITIES

• also known as Patau
Syndrome or 47XX13 /
47XY13
• clinical features: severely
cognitively challenged, cleft
and lip palate, abnormal
genitalia, microcephaly, microphthalmos,
low-set ears
• can’t survive beyond early childhood
1. TRANSLOCATIONS
• situation in which a child gains an
additional chromosomes through yet
another route
BALANCED TRANSLOCATION
Ex: one parent of a child has 46
chromosomes but chromosome 21 is
misplaced, instead of standing alone, it is
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ncm 107 theory - genetics

abnormally attached to another • sample of peripheral venous blood or a
chromosome, such as 14. The parent’s scrapping of cells from the buccal
appearance and functioning are normal membrane is taken
because the total chromosome count is a • lymphocytes are identified and allowed to
normal 46. grow until they reach metaphase or
prophase
UNBALANCED TRANSLOCATION • cells are then strained, placed under a
Ex: during meiosis, the abnormal microscope and photographed
chromosome 14 (carrying the extra 21
chromosome) and the normal chromosome A2. Molecular Karyotyping using
from the other parent are both included in chromosome microarray analysis (CMA)
one sperm or ovum, the resulting child will • studies individual genes rather than
have a total of 47 chromosomes because of chromosomes
the extra number 21. • detects even more than classical
karyotyping
2. INVERSIONS • 1st tier for prenatal diagnosis
• results from 2 breaks on a chromosome • diseases that can be identified: cystic
with inversion of a segment and reinsertion fibrosis, Huntington’s disease, fragile x
at its original site. syndrome, hemophilia, and Duchenne
• non-viable to conception muscular dystrophy

2. MATERNAL SERUM SCREENING

• sample of maternal blood can be
examined for a karyotyping and fetal DNA
• advantage: noninvasive and no risk of
3. DELETIONS fetal infection
• a part of the chromosome breaks during
cell division 3. NUCHAL TRANSLUCENCY
• causes the affected person to have the SCREENING
number of chromosome plus or minus an • sonogram taken during the 1st
extra portion of chromosomes, such as trimester
45.75, or 47.25 • measures the thickness of the
• a partial deletion on the short arm (p) of fluid buildup at the back of the
chromosome 5 is responsible for the cri-du- developing baby’s back
chat syndrome • diseases identified: down syndrome,
turner syndrome

DIAGNOSTIC TESTING 4. CHORIONIC VILLI SAMPLING (CVS)

• highly accurate but possess great risks
1. KARYOTYPING • chorion cells are located by ultrasound as
A1. Classical karyotyping a thin catheter is inserted vaginally and a
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ncm 107 theory - genetics

number of chorionic cells are removed for
analysis; cells removed will then be 10. PREIMPLANTATION DIAGNOSIS
submitted for karyotyping and or DNA • applicable to IVF
analysis procedures
• both sperm and ova are
assessed before
5. AMNIOCENTESIS implantation
• withdrawal of amniotic fluid
through the abdominal wall
at 15 to 20th week gestation
• a needle is inserted
transabdominally guided
with ultrasound, 20 mL of
amniotic fluid is aspirated.
GENETIC COUNSELING
6. PERCUTANEOUS UMBILICAL BLOOD
SAMPLING (PUBS) 1. Provide concrete, accurate
• also known as cordocentesis information about the process of
• removal of blood from the inheritance and inherited disorders
fetal umbilicus cord at 17 2. Reassure people who are concerned
weeks using an about their child may inherit a
amniocentesis technique particular disorder that the disorder
will not occur
3. Allow people who are affected by
7. ULTRASOUND / FETAL IMAGING inherited disorder to make informed
• also used to assess a fetus choices about future reproduction
for general size and structural 4. Allow people to pursue potential
disorders of the internal organs, interventions that may exist such as
spine and limbs fetal surgery
• MRI, and ultrasound 5. allow families to begin preparation
for a child with special needs
8. FETOSCOPY
• insertion of a fiber optic fetoscope through
a small incision in the
mother’s abdomen into the
uterus and membranes
•done under local anesthesia

REPRODUCTIVE ALTERNATIVES
9. NEWBORN SCREENING 1. artificial insemination by donor
• blood heel prick (AID)
• analysis 24 to 48 hours • for couple with a male who can’t
after birth produce an offspring
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ncm 107 theory - genetics

• sperm of an anonymous or safe
sperm donor or through a sperm
bank is used to impregnate a woman
• the sperm is injected into the uterus
or the cervical canal through a
special cannula
2. Surrogate mother
• a woman who agrees to be
alternately inseminated, typically by
the male partner’s sperm and bear a
child for the couple
2. People desiring genetic screening
must sign an informed consent for
the procedures
3. Results must be interpreted correctly
yet provided to the individuals as
quickly as possible
4. The results must not be withheld
from the individuals and must be
given only to those person’s directly
involved
5. After genetic counselling, persons
must not be coerced to undergo
procedures such as abortion or
sterilization. Any procedure must be
free and individual decision.

3. Adoption
4. Termination of pregnancy that
reveals chromosomal or metabolic
disorder

INDICATIONS OF CHROMOSOME
ANALYSIS:
1. Individuals with:
• multiple congenital malformations,
mental retardation and growth failure
• suspected chromosome
abnormalities based on their
phenotype
• ambiguous genitalia
• hematologic malignancies

2. Females with short stature or primary

amenorrhea
3. Male w/ infertility problems
4. Couples with multiple pregnancy loss
and suspected that one parent may
carry a balanced rearrangement

LEGAL AND ETHICAL ASPECTS

1. Participation by couples in genetic
screening must be elective