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The Language of Genetics

Punnett Squares
Inheritance Patterns
Human Pedigrees & Disorders

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2
  


V Gregor Mendel
B The Rules of Chance

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V 


ë The blending hypothesis of the

ë

s was discarded
2 Gregor Mendel the ´fatherµ of
genetics
a believed that distinct
factors (genes) were
responsible for
inheritance_
 b conducted breeding
experiments on pea
plants_

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 ] Genetics- the study of how
traits are passed from
parents to offspring_

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6 2



ë Gene- a portion of the

chromosome that controls a
trait (flower color)
2 Vllele- different versions of a
gene (P or p)
a genotype- genetic
composition
(PP or Pp or pp)
b phenotype- physical
appearance
(purple or white) _
 ] True-breed- an organism that
always passes on its
characteristics
a homozygous- two of the
same alleles for the
same trait
(PP- purple or pp- white)
4 Hybrid- an organism that has
two different alleles for the
same trait
a heterozygous- two
different alleles for the
same trait
´Clickµ (Pp- purple)_
ã Dominant- in a hybrid, the
allele that is expressed
(P- purple)
6 Recessive- in a hybrid, the
allele that is not expressed
(p- white)
7 P Generation- parents
(PP x pp)
Fë Generation- children
(4/4 Pp)
9 F2 Generation- grandchildren
(ë/4 PP, 2/4 Pp, ë/4 pp)_
2
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V Mendels Laws
B Monohybrid Cross
C Dihybrid Cross

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V  

ë Individual units, called genes,

determine biological
characteristics
2 For each gene, an organism
receives one allele from
each parent
a alleles separate from each
other (segregation)
b forming sex cells_
] If an organism inherits
different alleles for the
same trait, one allele is
dominant over the other
4 Some genes separate, or
segregate independently_
6 


ë V monohybrid cross results

from crossing two organisms
that differ in one
characteristic
a identify the dominant and
recessive alleles
b determine the genotype
of each parent and
possible gametes
c set up a Punnett square
and cross_
d list the genotypes and
phenotypes of the
offspring in each box
e determine the solution to
the problem_
  


ë V dihybrid cross results from

crossing organisms that
differ in two
characteristics_

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 a seed color and shape
b a cross between two
hybrids results in a
9:]:]:ë ratio_

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2
 

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V Incomplete Dominance
B Multiple Vlleles
C Polygenic Inheritance
D Environmental Influences
E Sex-linked Traits
 V   !
  

ë Incomplete dominance is when

neither gene is totally
dominant_

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2 Produces an intermediate
phenotype_
 6 
!V

ë There are 4 blood types, V, B,

VB, and O
Type V VV or Vo
Type B BB or Bo
Type VB VB
Type O oo
2 The gene for o is recessive to
´Clickµ V and B
] V and B are codominant_
 4 Mixing blood types can result
in blood clotting_

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  Y 



ë Polygenic inheritance is when

more than one gene affects
a single trait
a height and skin color_

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2 Produces a broad range of
phenotypes_
 " 
 

ë The environment can affect an

individuals phenotype
a height and weight,
coloring, blood count_

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  #$%2 


ë Sex chromosomes carry genes

for traits
a some genes are located on
the X chromosomes
(females have 2 genes)
b males have only ë gene
for each of these
traits_
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2 Thomas Hunt Morgan
discovered sex-linked traits
(eye color) in fruit flies_
 2 Thomas Hunt Morgan
discovered sex-linked traits
(eye color) in fruit flies_

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' #$ 2 


ë Calico fur (females only) is

produced by an inactive X
chromosome
a ) Process of silencing X
chromosome is called
lyonization
b ) X chromosome becomes a
dense heterochromatin barr
body_
2 Male pattern baldness is
influenced by hormones
coded for on the Y
chromosome_
] Ragged-red syndrome
a ) coded for in
mitochondrial DNV
b ) passed through maternal
lines_
   %

ë Genes on the same

chromosome are inherited as
a set unless crossing over
occurs

2 The percentage of crossing

over observed is equal to the
distance the two genes are
apart in map units or
centimorgans
&"'
V - B = ë2% ] Flower color and pollen
V - C = 2% shape in pea plants_
B - C = ë4%
V - E = 7%
E - D = ë9%
C - D = ë
%
D - B = 24% _
&"'
V - B = ë2%
V - C = 2%
B - C = ë4%
V - E = 7%
E - D = ë9%
C - D = ë
%
D - B = 24% _
 !


ë One gene affects the

expression of another

2 Ex Vlbinism affects hair

color_
  

V

ë V combination of alleles
leads to early death

2 Ex Tay-Sachs (recessive)

] Brachydactyly (dominant)_
2
 Y(

V Mutations / Chromosomal

Vccidents
B Pedigrees
C Rec/Dom Trait Disorders
D Sex-linked Disorders

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V 

)
  
V


ë V mutation is any change in the

nucleotide sequence of DNV
2 The most common types are
base substitution, insertion,
or deletion
a The dog and cat are fun
b The dog and bat are fun
(point mutation)
c The dop gan dca tar efu n
(frameshift mutation)_
] Nondisjunction results when
chromosomes separate
incorrectly in germ cells (as
opposed to somatic cells)
a results in monosomy or
trisomy_
 b occurs in sex
chromosomes
ë) Klinefelter - XXY
2) Turner ² X_

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 c and in autosomes
ë) Down syndrome_

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 2) Down syndrome
results from an extra
chromosome 2ë
]) occurs in about ë in
7

births_

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4 Changes in chromosome
structure can also lead to
disorders
a ) Deletion of part of ãth
chromosome leads to Cri du
chat syndrome
b ) characterized by
microcephaly (small head)
and cat-like cry_
ã Transposons (jumping genes)
(similar to restriction
enzymes)
a Class I retrotransposons-
Transcribe to RNV then
reverse transcribe back to
DNV
b Class II transposons ²
´cut and pasteµ DNV_
 6 Y

ë Pedigrees record and trace

the occurrence of traits in a
family
a male (square)
b female (circle)
c parents (horizontal)
d children (vertical)
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e affected (shaded)_
  ) 2 


ë If two unaffected parents

have an affected child, the
trait is recessive
a cystic fibrosis- a very
serious breathing
problem
b tay-sachs
c pku_

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 d sickle cell anemia- red
blood cells are shaped
like sickles
ë) suffer pain, organ
damage, even
death_

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2 If two affected parents
produce a normal child the
disorder must be dominant
a achondroplasia (dwarfism)
b polydactylism (6 fingers)
c Marfans Syndrome
d Huntingtons disease_
 #$%

ë Sex-linked disorders result

from genes that are located
on the X chromosome
  #$%

ë Sex-linked disorders result

from genes that are located
on the X chromosome
a hemophilia
b color blindness_

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2
Y

 



The Language of Genetics

Punnett Squares
Inheritance Patterns
Human Pedigrees & Disorders
Y

 



The Language of Genetics

Punnett Squares
Inheritance Patterns
Human Pedigrees & Disorders
Y

 



The Language of Genetics

Punnett Squares
Inheritance Patterns
Human Pedigrees & Disorders
Y

 



The Language of Genetics

Punnett Squares
Inheritance Patterns
Human Pedigrees & Disorders
] Genetics- the study of how
traits are passed from
parents to offspring_
 ] True-breed- an organism that
always passes on its
characteristics
a homozygous- two of the
same alleles for the
same trait
(PP- purple or pp- white)
4 Hybrid- an organism that has
two different alleles for the
same trait
a heterozygous- two
different alleles for the
same trait
´Clickµ (Pp- purple)_
 ã Dominant- in a hybrid, the
allele that is expressed
(P- purple)
6 Recessive- in a hybrid, the
allele that is not expressed
(p- white)
7 P Generation- parents
(PP x pp)
Fë Generation- children
(4/4 Pp)
9 F2 Generation- grandchildren
(ë/4 PP, 2/4 Pp, ë/4 pp)_
´Clickµ
Y

 

V Mendels Laws
B Monohybrid Cross
C Dihybrid Cross
 6 


ë V monohybrid cross results

from crossing two organisms
that differ in one
characteristic

´Clickµ
 V   !
  

ë Incomplete dominance is when

neither gene is totally
dominant_

´Clickµ
6 
!V

ë There are 4 blood types, V, B,

VB, and O
Type V VV or Vo
Type B BB or Bo
Type VB VB
Type O oo
2 The gene for o is recessive to
V and B
] V and B are codominant_
4 Mixing blood types can result
in blood clotting_
 Y 



ë Polygenic inheritance is when

more than one gene affects
a single trait
a height and skin color_
 " 
 

ë The environment can affect an

individuals phenotype
a height and weight,
coloring, blood count_
 #$%2 


ë Sex chromosomes carry genes

for traits
a some genes are located on
the X chromosomes
(females have 2 genes)
b males have only ë gene
for each of these
traits_
2 Thomas Hunt Morgan
discovered sex-linked traits
(eye color) in fruit flies_
 Y(

V Chromosomal Vccidents
B Pedigrees
C Rec/Dom Trait Disorders
D Sex-linked Disorders
a occurs in sex
chromosomes
ë) Klinefelter
2) Turner_
b and in autosomes
ë) fi uoy nac daer siht
uoy evah dyslexia
2) PKU
]) Down syndrome_
c Down syndrome results
from an extra
chromosome 2ë
ë) occurs in about ë in
7

births_
6 Y

ë Pedigrees record and trace

the occurrence of traits in a
family
a male (square)
b female (circle)
c parents (horizontal)
d children (vertical)
e affected (shaded)_
 ) 2 


ë If two unaffected parents

have an affected child, the
trait is recessive
a cystic fibrosis- a very
serious breathing
problem_
b sickle cell anemia- red
blood cells are shaped
like sickles
ë) suffer pain, organ
damage, even
death_
 #$%

ë Sex-linked disorders result

from genes that are located
on the X chromosome
a hemophilia
b color blindness_