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Y  Y  

Module 2
Part 1- Genetic
Foundations
© e genetic process

 Cell
 Nucleus
 C romosomes
 DNA
 Genes
 

©readlike structures
t at contain t e
genetic substance
DNA.
DNA (xeoxyribonucleic
acid)

A complex molecule
t at contains genetic
information.
Wit in cells, DNA is
organized into X-
s aped structures
called c romosomes
Genes

 Units of ereditary
information composed of
DNA. Genes direct cells to
reproduce t emselves and
manufacture t e proteins
t at maintain life
 A gene is te basic unit of
eredity in a living organism.
Genome

© e complete set of
developmental instructions for
creating proteins t at initiate
t e making of a uman
organism.
itosis

 Cellular reproduction in
w ic t e cell¶s nucleus
duplicates itself wit two
new cells being formed,
eac containing t e same
DNA as t e parent cell,
arranged in t e same 23
pairs of c romosomes.
eiosis

 A specialized form of cell


division t at occurs to
form eggs and sperm.
ygote

 A single cell formed


t roug fertilization.
 It is t
e next stage in in
t e process of of
reproduction.
Gources of variability

 X c romosome and Y
c romosome
 Genotype- all of a person¶s
genetic material.
P enotype-t e way an
individual¶ genotype is
expressed in observed and
measurable c aracteristics.
 Heredity environment
interaction.
Genetic principles

 Dominant recessive genes


principle

 Gex linked genes


 Genetic imprinting
 Polygenic in eritance
Dominant recessive genes principle

xominant Inheritance ± a pattern of


in eritance in w ic , w en a c ild receives
contradictory alleles, only t e dominant one is
expressed.

Recessive Inheritance ± a pattern of


in eritance in w ic a c ild receives identical
recessive alleles, resulting in expression of a
non dominant trait.

Alleles ± paired genes (alike or different) t at


affect a trait. W en bot t e alleles are t e
same , t e person is is omozygous . W en
t ey are different t e person is eterozygous.
uomozygous ± possessing two identical
alleles for a trait.

ueterozygous ±possessing differing


alleles for a trait.

Polygenic inheritance ± pattern of


in eritance in w ic multiple genes
affect a complex trait.

Multifactorial transmission ± a
combination of genetic and
environmental factors to produce certain
complex traits.
C romosomal and gene linked
abnormalities
 Down syndrome ± trisomy 21.
 Failure of t e 21st c romosome to
separate during meiosis. In some cases an
extra broken piece of a 21st c romosome
is present.
 Down¶s syndrome is c aracterized by-
 ental retardation.
 emory and speec problems, limited
vocabulary and slow motor development.
 Distinct pysical features w ic include-
a s ort stocky build, a flattened nose, a
protruding tongue, almond s aped eyes,
and an unusual crease running across
t e palm of t e and.
 Oters conditions include ± eye
cataracts, eart and intestinal defects
 G ort lifespan.
 Difficulties in breat ing and feeding.
Ot er abnormalities.
 Cooley¶ anemia (R)
 Cystic fibrosis (R)
P enylketoneuria (R)

 Gickle cell anemia (R)


 ©ay sac s disease (R)

 Huntington disease (D)


 arfan syndrome (D)
  
 






î syndrome ± extra y
c romosome. Above avg
eig t, large teet and
sometimes severe acne.
Intelligence male sexual
development and fertility
are normal
 1 in 1000 male birt s
 No special treatment is
necessary.
©riple î syndrome- extra
X c romosome . ©allness
and impaired verbal
intelligence. Female sexual
development and fertility
are normal.
1in 500 to 1250 female
birt s
Gpecial edu to treat verbal
and ability problems.
 ÿlienfelter syndrome
îî ± extra X
c romosome. ©allness, body
fat distributing females,
incomplete development of
sex c aracteristics at
puberty, sterility, and
impaired verbal intelligence.
 1 in 900 male birt s .
 Hormone t erapy at
puberty to stimulate
development of sex
c aracteristics. Gpecial
education to treat verbal
ability problems.
 ©uner syndrome (î- missing
x c romosome. G ort stature,
webbed neck, incomplete
development of sex c aracteristics
at puberty, sterility and impaired
spatial intelligence.
 1 in 2500 to 8000 female birt s.
 Hormone t erapy in c ild ood to
stimulate p ysical growt and at
puberty to promote development
of sex c aracteristics. Gpecial edu
to treat spatial ability problems.
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