Genetics

&
The Work of Mendel

AP Biology 03/29/2024
 Gregor Mendel
 Modern genetics began in the
mid-1800s in an abbey garden,
where a monk named Gregor
Mendel documented inheritance
in peas
 used experimental method
 used quantitative analysis

 collected data & counted them

 excellent example of scientific
method
AP Biology
 Mendel’s work Pollen transferred from white
flower to stigma of purple flower

 Bred pea plants P

 cross-pollinate
true breeding parents (P)
 P = parental anthers
removed
 raised seed & then all purple flowers result
observed traits (F1)
 F = filial F1
 allowed offspring
to self-pollinate
& observed next self-pollinate

generation (F2)
AP Biology F2
 Mendel collected data for 7 pea traits

AP Biology
 Looking closer at Mendel’s work
true-breeding true-breeding
P purple-flower peas X white-flower peas

100%
F1 purple-flower peas
100%
generation
(hybrids)

self-pollinate

75% 25%
purple-flower peas white-flower peas 3:1
F2
generation
AP Biology
 What did Mendel’s findings mean?
 Traits come in alternative versions
 purple vs. white flower color
 alleles

 different alleles vary in the sequence of

nucleotides at the specific locus of a gene
 some difference in sequence of A, T, C, G

purple-flower allele &

white-flower allele are two DNA
variations at flower-color locus

different versions of gene at

same location on homologous
chromosomes
AP Biology
 Traits are inherited as discrete units
 For each characteristic, an organism
inherits 2 alleles, 1 from each parent
 diploid organism
 inherits 2 sets of chromosomes,
1 from each parent
 homologous chromosomes
 like having 2 editions of encyclopedia
 Encyclopedia Britannica
 Encyclopedia Americana

What are the

advantages of
being diploid?
AP Biology
 What did Mendel’s findings mean?
 Some traits mask others
 purple & white flower colors are I’ll speak for
separate traits that do not blend both of us!
 purple x white ≠ light purple
 purple masked white
 dominant allele
 functional protein allele producing mutant allele
functional protein malfunctioning
 affects characteristic protein
 masks other alleles
 recessive allele homologous
chromosomes
 no noticeable effect
 allele makes a
AP Biology
malfunctioning protein
 Genotype vs. phenotype
 Difference between how an organism
“looks” & its genetics
 phenotype
 description of an organism’s trait
 genotype
 description of an organism’s genetic
makeup
P X

Explain Mendel’s results using purple white

…dominant & recessive
…phenotype & genotype F1
AP Biology all purple
 Making crosses
 Can represent alleles as letters
 flower color alleles  P or p
 true-breeding purple-flower peas  PP

 true-breeding white-flower peas  pp

P X PP x pp
purple white

F1
all purple
Pp
AP Biology
 Looking closer at Mendel’s work
true-breeding true-breeding phenotyp
P purple-flower peas X white-flower peas e

genotyp
PP pp e
100%
F1 purple-flower peas
generatio 100%
n
(hybrids)
Pp Pp Pp Pp
self-pollinate
75% 25% 3:
F2
purple-flower peas white-flower peas 1
generatio
n
AP Biology ? ? ? ?
 Aaaaah,
phenotype & genotype
Punnett squares can have different
F1 Pp x Pp ratios
generatio
n
(hybrids) % %
genotype phenotype
male / sperm
PP 25%
P p
Pp 75%
female / eggs

P PP Pp 50%
Pp
p Pp pp pp 25% 25%

1:2: 3:
AP Biology
1 1
 Genotypes
 Homozygous = same alleles = PP, pp
 Heterozygous = different alleles = Pp

homozygous
dominant

heterozygous

homozygous
recessive
AP Biology
 Phenotype vs. genotype
 2 organisms can have the same
phenotype but have different genotypes

purple PP homozygous dominant

purple Pp heterozygous Can’t tell

by lookin’
at ya!

How do you determine the

genotype of an individual with
with a dominant phenotype?
AP Biology
 Test cross
 Breed the dominant phenotype —
the unknown genotype — with a
homozygous recessive (pp) to
determine the identity of the unknown
allele

x How does
that work?

is it pp
PP or Pp?
AP Biology
 How does a Test cross work?
x x
PP pp Pp pp

p p p p

P Pp Pp P Pp Pp

P Pp Pp p pp pp
100% 50% purple:50% white or
AP Biology purple 1:1
 Mendel’s 1st law of heredity P
 Law of segregation PP
 during meiosis, alleles segregate P
 homologous chromosomes separate
 each allele for a trait is packaged into p
a separate gamete
pp
p

P
Pp
AP Biology p
 Law of Segregation
 Which stage of
meiosis creates the
law of segregation?

Metaphase 1
Whoa!
And Mendel
didn’t even know
DNA or genes
existed!

AP Biology
 Monohybrid cross
 Some of Mendel’s experiments followed
the inheritance of single characters
 flower color
 seed color

 monohybrid crosses

AP Biology
 Dihybrid cross
 Other of Mendel’s
experiments followed
the inheritance of 2
different characters
 seed color and
seed shape
 dihybrid crosses

Mendel
was working out
many of the
genetic rules!
AP Biology
 Dihybrid cross
true-breeding true-breeding
P yellow, round peas x green, wrinkled peas
Y= YYRR yyrr y = green
yellow r=
R = round wrinkled

yellow, round peas

F1
generation 100%
(hybrids)
YyRr
self-pollinate
9:3:3:
F2 1
generation 9/16 3/16 3/16 1/16
yellow green yellow green
round round wrinkled wrinkled
AP Biology peas peas peas peas
 What’s going on here?
 If genes are on different chromosomes…
 how do they assort in the gametes?
 together or independently?

Is it Or
YyRr this? this? YyRr

YR yr YR Yr yR yr
Which system
explains the
AP Biology data?
 YyRr YyRr
or
Is this the way it works?
YR yr YR Yr yR yr
YyRr x YyRr
9/16


yellow
round

YR yr 3/16
green
round
Well, that’s
YR NOT right!
YYRR YyRr
3/16
yellow
wrinkled
yr YyRr yyrr
1/16
green
wrinkled
AP Biology
 YyRr YyRr
or
Dihybrid cross
YR yr YR Yr yR yr
YyRr x YyRr
9/16
yellow
round


YR Yr yR yr
3/16
YR YYRR YYRr YyRR YyRr green
round

Yr YYRr YYrr YyRr Yyrr

BINGO!
3/16
yellow
wrinkled
yR YyRR YyRr yyRR yyRr
1/16
yr YyRr Yyrr yyRr yyrr green
wrinkled
AP Biology
 Can you think
of an exception
Mendel’s 2nd law of heredity to this?

 Law of independent assortment

 different loci (genes) separate into gametes
independently
yello  non-homologous chromosomes align independently
w  classes of gametes produced in equal amounts
gree
n  YR = Yr = yR = yr
roun  only true for genes on separate chromosomes or
d on same chromosome but so far apart that crossing
wrinkle over happens frequently
d
YyRr

Yr Yr yR yR YR YR yr yr
1
AP Biology : 1 : 1 : 1
 Law of Independent Assortment
 Which stage of meiosis
creates the law of
independent assortment?
Remember Metaphase 1
Mendel didn’t
even know DNA
—or genes—
existed!
EXCEPTION
 If genes are on same
chromosome & close together
 will usually be inherited
together
 rarely crossover separately
AP Biology  “linked”
 Linked Genes
 Sometimes genes on the same chromosomes stay together during assortment and
move as a group. The group of genes is considered linked and tends to be
inherited together. For example, the genes for flower color and pollen shape are
linked on the same chromosomes and show up together. Since linked genes are
found on the same chromosome, they cannot segregate independently, this
violates the law of independent assortment.
 Lets pretend that height and color genes are linked. A heterozygote for both traits
still have two alleles for height (T or t) and two alleles for color (G and g). However,
because height and color are located on the same chromosome, the allele for
height and the allele for color are physically linked. For example, maybe the
heterozygote has one chromosome with Tg and one chromosome with tG. When
gametes formed, the T and g will travel together, and the t and G will travel
together and be packaged into a gamete together. So, in the unlinked dihybrid
shown earlier there were four possible gamete combinations (TG, Tg, tG, tg), but
now there are only two (Tg and tG). The only way to physically separate linked
alleles is by crossing over. If a crossover even occurs between the linked genes,
then recombinant gametes can occur.
 If the genes were unlinked, then the four gametes (TG, Tg, tG, tg) would be equally
likely. However, if certain combinations of alleles are found more often in offspring,
then this is a sign of possible linkage.

AP Biology
 Linkage Maps
 A linkage map is a genetic map put together using crossover
frequencies. Another unit of measurement, the map unit (also known as
a centigram), is used to geographically relate genes on the basis of the
frequencies. One map unit is equal to a 1 percent crossover frequency.
A linkage map does not provide the exact location of genes, it gives
only the relative location.
 Imagine that you want to determine the relative location of four genes:
A, B, C, and D. You know that A crosses over with C 20 percent of the
time, B crosses over with C 15 percent of the time, A crosses over with
D 10 percent of the time, and D crosses over with B 5 percent of the
time. From this information you can determine the sequence. Gene A
must be 20 units from gene C. Gene B must be 15 units from C, but B
could be 5 or 35 units from B, you can determine that B must be 5 units
from A as well, if A is also to be 10 units from D. This gives you the
sequence of genes as ABDC.

AP Biology
 The
chromosomal
basis of Mendel’s

laws…

Trace the genetic

events through
meiosis, gamete
formation &
fertilization to
offspring
AP Biology
 Review: Mendel’s laws of heredity
 Law of segregation
 monohybrid cross
 single trait
 each allele segregates into separate gametes
 established by Metaphase 1
 Law of independent assortment
 dihybrid (or more) cross
 2 or more traits
 genes on separate chromosomes
assort into gametes independently
 established by Metaphase 1

EXCEPTION
AP Biology  linked genes metaphase1
 Mendel chose peas wisely
 Pea plants are good for genetic research
 available in many varieties with distinct
heritable features with different variations
 flower color, seed color, seed shape, etc.
 Mendel had strict control over
which plants mated with which
 each pea plant has male & female
structures
 pea plants can self-fertilize
 Mendel could also cross-pollinate
plants: moving pollen from one plant
to another
AP Biology
 Mendel chose peas luckily
 Pea plants are good for genetic research
 relatively simple genetically
 most characters are controlled by a single gene
with each gene having only 2 alleles,
 one completely dominant over
the other

AP Biology
 Laws of Probability
 Understanding how to predict offspring of genetic crosses
involves familiarity with the basic laws of probability. There are
two laws that you will use directly in solving genetic problems.
 -The rule of multiplication: When calculating the probability that
two or more independent events will occur together in a specific
combination, multiply the probabilities of each of the two
events. Thus, the probability of a coin landing face up two times
in two flips is ½ x ½ = ¼. IF you cross two organisms with the
genotypes AABbCc and AbBbCc, the probability of an offspring
having the genotype AaBbcc is ½ x ½ x ¼ = 1/16
 -The rule of addition: When calculating the probability that any
of two or more mutually exclusive events will occur, you need to
add together their individual probabilities. For example, if you
are tossing a die, what is the probability that it will land on
either the side with 4 spots or the side with 5 spots? (1/6 + 1/6 =
2/6=1/3)
AP Biology
 Beyond Mendel’s Laws
of Inheritance

AP Biology 2006-2007
 Extending Mendelian genetics
 Mendel worked with a simple system
 peas are genetically simple
 most traits are controlled by a single gene

 each gene has only 2 alleles, 1 of which

is completely dominant to the other

 The relationship between
genotype & phenotype
is rarely that simple

AP Biology
 Incomplete dominance
 Heterozygote shows an intermediate,
blended phenotype
 example:
 RR = red flowers
 rr = white flowers
 Rr = pink flowers
 make 50% less color

AP Biology RR Rr rr
 Incomplete dominance
true-breeding X true-breeding
P red flowers white flowers

100% pink
flowers
F1 100
generatio
n %
(hybrids)
It’s like
self-pollinate flipping 2
pennies!
25 50% 25%
% pin whit 1:2:
red k e 1
F2
generatio
n
AP Biology
 Incomplete dominance
CRCW x C RCW
% %
genotype phenotype

male / sperm CRCR 25% 25%

CR CW
CRCW
50% 50%
C C
R R
C C
R W
female / eggs

C R
CRCW

CRCW C WC W 25% 25%

CW C C
W W

1:2: 1:2:
1 1
AP Biology
 Co-dominance
 2 alleles affect the phenotype equally &
separately
 not blended phenotype
 example: ABO blood groups

 3 alleles

 IA, I B, i
 IA & IB alleles are co-dominant to each other
 both antigens are produced
 both IA & IB are dominant to i allele
 produces glycoprotein
antigen markers on the
surface of red blood cells
AP Biology
 Genetics of Blood type
pheno- antigen antibodies donation
genotype
type on RBC in blood status
type A antigens
A I I
A A or A
I i on surface
of RBC
anti-B antibodies __
type B antigens
B I I
B B or B
I i on surface
of RBC
anti-A antibodies __
both type A &
type B antigens universal
AB IA IB on surface
no antibodies
recipient
of RBC
no antigens universal
anti-A & anti-B
O ii on surface
of RBC
antibodies donor

AP Biology
 1901 | 1930
Blood compatibility
 Matching compatible blood groups
 critical for blood transfusions
 A person produces antibodies against
antigens in foreign blood Karl Landsteiner
 wrong blood type (1868-1943)

 donor’s blood has A or B antigen that is

foreign to recipient
 antibodies in recipient’s blood bind to
foreign molecules
 cause donated blood cells to clump together
 can kill the recipient

AP Biology
 Blood donation

clotting clotting

clotting clotting

clotting clotting clotting

AP Biology
 Pleiotropy
 Most genes are pleiotropic
 one gene affects more than one
phenotypic character
 wide-ranging effects due to a single gene
 dwarfism (achondroplasia)
 gigantism (acromegaly)

AP Biology
 Acromegaly: André the Giant

AP Biology
 Inheritance pattern of Achondroplasia
Aa x aa Aa x Aa

a a A a

A Aa Aa A

AA Aa

a aa aa a Aa aa
50% dwarf:50% normal or 67% dwarf:33% normal or
AP Biology 1:1 2:1
 Epistasis
 One gene completely masks another gene
 coat color in mice = 2 separate genes
 C,c:
pigment (C) or
B_C no pigment (c)
_  B,b:
bbC
_ more pigment (black=B)
_ or less (brown=b)
_cc  cc = albino,
no matter B allele
 9:3:3:1 becomes 9:3:4
How would you know that
difference wasn’t random chance?
AP Biology Chi-square test!
 Epistasis in Labrador retrievers
 2 genes: (E,e) & (B,b)
 pigment (E) or no pigment (e)
 pigment concentration: black (B) to brown (b)

eebb eeB– E–bb E–B–

AP Biology
 Epistasis in X

grain color White

(AAbb)
White
(aaBB)

F1 generation

A = enzyme 1 All purple

(AaBb)
+
B = enzyme 2 Eggs
AB Ab aB ab

AB AABB AABb AaBBAaBb
purple color
(anthocyanin) Ab AABbAAbb AaBb Aabb F2 generation
Sperm
9:3:3: aB AaBB AaBb aaBB aaBb
9/16 purple
7/16 white
1
9: ab AaBb Aabb aaBb aabb
AP Biology
7
 Polygenic inheritance
 Some phenotypes determined by
additive effects of 2 or more genes on a
single character
 phenotypes on a continuum
 human traits

 skin color
 height
 weight
 eye color
 intelligence
 behaviors
AP Biology
 Skin color: Albinism
 However albinism can be
inherited as a single gene trait

albino
Africans

melanin = universal brown color

enzyme
tyrosine
AP Biology
melanin
albinism
 1910 | 1933
Sex linked traits
 Genes are on sex chromosomes
 as opposed to autosomal chromosomes
 first discovered by T.H. Morgan at Columbia U.
 Drosophila breeding
 good genetic subject
 prolific
 2 week generations
 4 pairs of chromosomes
 XX=female, XY=male

AP Biology
 Classes of chromosomes

autosomal
chromosome
s
sex
chromosome
s
AP Biology
 Discovery of sex linkage
true-breeding true-breeding
red-eye female X
P white-eye male

Huh!
Sex matters?!
100%
F1 red eye
offspring
generatio
n
(hybrids)

100% 50% red-eye male

red-eye 50% white eye
F2 female male
generatio
n
AP Biology
 What’s up with Morgan’s flies?
x x


RR rr Rr Rr

r r R r

R Rr Rr R RR Rr
Doesn’t work
that way!

R Rr Rr r Rr rr
100% red 3 red : 1
AP Biology eyes white
 Genetics of Sex
 In humans & other mammals, there are 2
sex chromosomes: X & Y
 2 X chromosomes
 develop as a female: XX
 gene redundancy,
like autosomal chromosomes
 an X & Y chromosome X Y
 develop as a male: XY
 no redundancy X XX XY

50% female : 50% X XX XY

AP Biology
male
 What’s up with Morgan’s flies?
x x
X RX R XrY X RX r X RY


Xr Y XR Y

XR XR
X RX r X RY X RX R X RY
BINGO!

XR Xr
X RX r X RY X X
R r
X r
Y
100% red 100% red females
50% red males; 50% white
AP Biology eyes males
 Genes on sex chromosomes
 Y chromosome
 few genes other than SRY
 sex-determining region
 master regulator for maleness
 turns on genes for production of male hormones
 many effects = pleiotropy!
 X chromosome
 other genes/traits beyond sex determination
 mutations:
 hemophilia
 Duchenne muscular dystrophy
 color-blindness
AP Biology
 Ichthyosis, X-linked
Placental steroid sulfatase deficiency

Human X chromosome Kallmann syndrome

Chondrodysplasia punctata,
X-linked recessive
Hypophosphatemia

 Sex-linked
Aicardi syndrome
Duchenne muscular dystrophy Hypomagnesemia, X-linked
Becker muscular dystrophy Ocular albinism
Retinoschisis
Chronic granulomatous disease
 usually Retinitis pigmentosa-3
Norrie disease
Adrenal hypoplasia
Glycerol kinase deficiency
Ornithine transcarbamylase
Retinitis pigmentosa-2
means deficiency
Incontinentia pigmenti
Wiskott-Aldrich syndrome
“X-linked” Menkes syndrome
Androgen insensitivity
Sideroblastic anemia
 more than
Charcot-Marie-Tooth neuropathy
Aarskog-Scott syndrome Choroideremia
PGK deficiency hemolytic anemia Cleft palate, X-linked
Spastic paraplegia, X-linked,
60 diseases Anhidrotic ectodermal dysplasia
Agammaglobulinemia
uncomplicated
Deafness with stapes fixation
PRPS-related gout
traced to
Kennedy disease
Pelizaeus-Merzbacher disease Lowe syndrome
Alport syndrome
Lesch-Nyhan syndrome
genes on X Fabry disease
Immunodeficiency, X-linked,
HPRT-related gout
Hunter syndrome
with hyper IgM Hemophilia B
chromosome Lymphoproliferative syndrome Hemophilia A
G6PD deficiency: favism
Drug-sensitive anemia
Albinism-deafness syndrome Chronic hemolytic anemia
Manic-depressive illness, X-linked
Fragile-X syndrome Colorblindness, (several forms)
Dyskeratosis congenita
TKCR syndrome
Adrenoleukodystrophy
Adrenomyeloneuropathy
Emery-Dreifuss muscular dystrophy
AP Biology Diabetes insipidus, renal
Myotubular myopathy, X-linked
 Map of Human Y chromosome?
< 30 genes on
Y chromosome Sex-determining Region Y (SRY)
Channel Flipping (FLP)
Catching & Throwing (BLZ-1)
Self confidence (BLZ-2)
note: not linked to ability gene
Devotion to sports (BUD-E)
Addiction to death &
destruction movies (SAW-2) Air guitar (RIF)

Scratching (ITCH-E)
Spitting (P2E) linked

Inability to express
affection over phone (ME-2) Selective hearing loss (HUH)
Total lack of recall for dates (OOPS)
AP Biology
 Sex-linked traits summary
 X-linked
 follow the X chromosomes
 males get their X from their mother

 trait is never passed from father to son

 Y-linked
 very few genes / traits
 trait is only passed from father to son

 females cannot inherit trait

AP Biology
 Pedigrees
 A pedigree is a diagram that shows the relationship between parents
and offspring across two or more generations. In a typical pedigree
circles represent females and squares represent males. White open
circles or squares indicate that the individual did not or does not
express a particular trait, whereas the shaded ones indicate that the
individual expresses or expressed that trait. Through the patterns they
reveal, pedigrees can help determine the genome of individuals that
comprise them; pedigrees can also help predict the genome of future off
spring.
 Recessive inherited disorders: (Cystic fibrosis, Tay-Sachs, Sickle Cell)

AP Biology
 Dominant Pedigrees
Example: Huntington's disease

AP Biology
 Chromosome Theory of inheritance
 The chromosome theory of inheritance
states that genes have specific
locations (loci) on chromosomes and
that it is chromosomes that segregate
and assort independently. It is
important to connect this physical
movement of chromosomes in meiosis
to Mendel’s laws of inheritance

AP Biology
 X-inactivation
 Female mammals inherit 2 X chromosomes
 one X becomes inactivated during
embryonic development
 condenses into compact object = Barr body
 which X becomes Barr body is random
 patchwork trait = “mosaic”

X H

X HX h
Xh
AP Biology
 X-inactivation & tortoise shell cat
 2 different cell lines in cat

AP Biology
 Male pattern baldness
 Sex influenced trait
 autosomal trait influenced by sex hormones
 age effect as well = onset after 30 years old
 dominant in males & recessive in females
 B_ = bald in males; bb = bald in females

AP Biology
 Nature vs. nurture
 Phenotype is controlled by
both environment & genes
Human skin color is influenced
by both genetics &
environmental conditions
Coat color in arctic
fox influenced by
heat sensitive alleles

Color of Hydrangea flowers

APinfluenced
is Biology by soil pH
 Mechanisms of Inheritance

How do we go from DNA to trait?

? vs.

AP Biology 2006-2007
 Mechanisms of inheritance
 What causes the differences in alleles
of a trait?
 yellow vs. green color
 smooth vs. wrinkled seeds

 dark vs. light skin

 sickle cell anemia vs. no disease

 What causes dominance vs. recessive?

AP Biology
 Molecular mechanisms of inheritance
 Molecular basis of inheritance
 genes code for polypeptides
 polypeptides are processed into proteins

 proteins function as…

 enzymes
 structural proteins
 regulators
 hormones
 gene activators
 gene inhibitors

DN RN protei trai
APABiology A n t
 How does dominance work: enzyme
= allele coding for = allele coding for
functional enzyme non-functional enzyme
protein protein

= 50% functional enzyme

heterozygous
 sufficient enzyme present Aa
 normal trait is expressed carrier
 normal trait is DOMINANT
= 100% non-functional enzyme
homozygous
recessive  mutant trait is expressed aa

= 100% functional enzyme

homozygous
dominant
 normal trait is expressed AA
AP Biology
example: enzyme has incorrect structure at active site
 How does dominance work: structure
= allele coding for = allele coding for
functional structural non-functional structural
protein protein

= 50% functional structure

heterozygous
 50% proteins malformed Aa
 mutant trait is expressed
 mutant trait is DOMINANT
= 100% non-functional structure
homozygous
dominant  mutant trait is expressed AA

= 100% functional structure

homozygous
recessive
 normal trait is expressed aa
AP Biology
channel protein,
example: malformed receptor protein, “stuck
“stuck open”
on”
 Prevalence of dominance
 Because an allele is dominant
does not mean…
Polydactyly
 it is better, or
dominant allele
 it is more common

AP Biology