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GENETICS

The study of inheritance


SC.912.L.16.1: Use Mendel’s laws of
segregation and independent
assortment to analyze patterns of
inheritance.

SC.912.L.16.2: Discuss observed


inheritance patterns caused by
various modes of inheritance,
including dominant, recessive,
codominant, sex-linked, polygenic,
and multiple alleles
Earlobes: Free ear lobes (dominant trait)

Forelock: White forelock (dominant trait)

Dimples: Dimples (dominant trait)

Thumbs: Straight thumb (dominant trait)

Pinky: Straight pinky (recessive trait)

Mid-digit hair: Mid-digit hair (dominant trait)

Polydactyl: 6 fingers/toes (dominant)

Longer second toe: (dominant)

HUMAN TRAITS Widows peak: (dominant)


Search: McKusick Mendelian Inheritance in Man
Albinism 203100 brown hair 113750
Baldness 109200 cleft chin 119000
Ear point 124300 eye color 227240
Hair whorl 139400 handedness (right) 139900
Hand clasping 139800 myopia 160700
Polydactyl 174200 PTC tasting 171200
Tongue rolling/folding 189300
Widows peak 194000
Color blindness 303800 and 303900
Double jointed thumbs 274200
Index finger (shorter than ring finger) 136100

human genes resource page


ID YOUR TRAITS @ Research for pedigree report:
23ANDME NCBI
http://www.ncbi.nlm.nih.gov/omim
Gregor Mendel
Father of genetics

Austrian Monk
Studied garden peas
Same time as Darwin
Prior to Chromosome Theory of
Inheritance (1903)
AND
discovery of DNA (structure 1954)
Mendel’s Laws of inheritance
Law of Dominance
dominant allele over recessive
allele
Law of Segregation
traits separated during gamete
formation (recall meiosis)
Law of Independent Assortment
different traits inherited
independently
Mendel’s Peas traits
Pea color = Y yellow
y green

Y = dominant OR
y+ = dominant/ wild type

y = recessive OR
y = recessive/ not wild type

Mendel’s OTHER
Dominant/recessive pea traits

purple/white flower color


Axial/terminal buds
tall/dwarf stems
Round/wrinkled pea shape
inflated/constricted pea pod
Green/yellow pea pod color
Law of Dominance
= dominant allele will over power
the recessive allele
Genotype (allelic/genetic make up)
Phenotype (outward expression of genotype)

GENOTYPE PHENOTYPE
YY (or y+y+) yellow
homozygous dominant
Yy (or y+y) heterozygous yellow
Yy (or yy) green
homozygous recessive
Law of Segregation
alleles are separated during
gamete formation (during meiosis)

Mendel crossed 2 purebred peas:


In DIPLOID
organisms,
homozygous ♀ X homozygous ♂ alleles for traits are
Dominant recessive separated into
different gametes
YY x yy during meiosis
RECALL
HAPLOID CELLS (SEX CELLS)
 In humans haploid
gametes are:  Parents START as DIPLOID/2n
Egg (oogonium) and for each trait
sperm (spermatozoa) AA or Aa or aa
 During meiosis,  After meiosis, gametes are
gametes receive ONE HAPLOID/1n for each trait
copy of each gene
(Law of Segregation) A or a

 These SINGLE COPIES  Parents only pass one ONE


of genes are the basis copy of a gene to offspring
for inherited traits from via their sex cells (gametes)
made during meiosis
PARENTS to OFFSPRING
PARENT AA X PARENT A A
A A
Mendel’s
LAW OF SEGREGATION =
a Aa Aa
Alleles are separated into

a Aa Aa
gametes during meiosis

This allows gametes (sex cells)


To be 1n (haploid)

When gametes join during sexual reproduction,


Genetically UNIQUE offspring are produced
MONOHYBRID CROSS
Pure breds are crossed for a SINGLE TRAIT

♀YY (yellow) x ♂ yy (green)

♀\♂ y y
Y Yy Yy
Y Yy Yy
100% of F1 generation

Mendel’s F1 generation = 100% genotype Yy and phenotype yellow


When offspring of F1 generation crossed

X
♀ Yy X ♂ Yy
♀\♂ Y y
Y YY Yy F2 generation = YY
Yy
yellow ¼
yellow ½
yy green ¼

y Yy yy Genotypic ratio 1:2:1

Phenotypic ration (yellow:green) 3:1

The Law of Segregation shows


separation of alleles during gamete formation
as shown in Punnett squares
Law of Independent Assortment
Different alleles are sorted into different
gametes independently from one another
Drosophila melanogaster : model organism for genetic studies
Simple traits / easily identified

B = gray body (b+) W = normal wings (vg+)


b = black body (b) w = dumpy wings (vg)
Cross two purebreds
♀ BBWW ( b+b+/vg+vg+) x ♂ bbww (ww/vgvg)

100% of the F1 generation will be BbWw (b+b vg+vg)

Parental generation → F1 generation

Cross 2 purebred parents


F1 generation
♀ BBWW X ♂ bbww 100% BbWw
When You Cross the F1
generation
♀ BbWw X ♂ BbWw
Possible gametes due to
INDEPENDENT
ASSORTMENT
♀ possible gametes ♂ possible gametes

BW, Bw, bW, bw BW, Bw, bW, bw

Body color and wing type


alleles are sorted into
gametes independently
from each other
The Law of independent Assortment, different
alleles are sorted ito gametes independently
from each other,is demonstraterd by a
DIHYBRID cross
Cross F1 generation ♀ BbWw X ♂ BbWw
possible gametes BW Bw bW bw

BW Bw bW bw F2 generation

B_W_ =
BW
B_ww =
Bw
bbW_ =

bW bbww =

bw 9:3:3:1 ratio
Some traits are determined by a single gene; for
example, presence of freckles (F) is a dominant
trait, and lack of freckles (f) is recessive. Having
detached earlobes (D) is a dominant trait, and
having attached earlobes (d) is recessive.
Pedro and his wife Rosa have detached earlobes,
but Rosa has freckles and Pedro does not. Their
daughter Jessica has attached earlobes and does
not have freckles. Which of the following
genotypes must Rosa have?

 a. FFDD b. FFDd c. FfDD d. FfDd


INCOMPLETE DOMINANCE
ONE TRAIT IS NOT DOMINANT OVER THE OTHER TRAIT

Often in plant color

R = red RR = red flower


r = white rr = white flower

heterozygotes
Rr = pink flower
Epistasis
one gene controls whether or
not another is expressed

Polygenic inheritance
=
Polygenic
Inheritance
more than one gene controls
expression of phenotype
CODOMINANCE
ALLELES FOR BOTH GENES ARE EXPRESSED

Flowers
R = red RR = red
r = white rr = white
Rr = red and white speckled flower

ABO blood typing


Erythrocytes (red blood cells) may have
major antigens that determine blood type

ABO blood type is codominant meaning if the antigen is


present, it is expressed

The I antigen may be IA or IB type A, B, or AB

The lack of RBC I antigen = ii type O


RBC antigens Common phenotype
genotype
IA IA AA Type A
IA i AO Type A
IB IB BB Type B
IB i BO Type B
IA IB AB Type AB
i i OO Type O
Naturally occurring antibodies make
BLOOD TYPING necessary
for BLOOD TRANSFUSIONS

ANTIBODY present

Anti B in Type A blood


Anti A in Type B blood
None in Type AB blood
Anti A and Anti B in Type AB blood

You Rh blood type is


determined by the Rh factor

You will be Rh positive or Rh negative for


the Rh antigen (CDE)

The Rh antigen is
autosomal dominant/recessive
**can cause hemolytic disease of the
newborn**
A hairline that comes to a point in the center of
the forehead is called a widow's peak. Having a
widow's peak is a dominant trait, while having
a straight hairline is a recessive trait. Cate, a
woman with a widow's peak, has two children
with James, a man with a straight hairline like
her father.
What is the probability that their next child will
have a straight hairline

A. O% B. 25% C. 50% D. 75%


Females will pass an
SEX CHROMOSOMES X or an X on to offspring
The X and Y chromosomes determine gender
Males will pass an
Females (♀) are X X and Males (♂) are X Y X or a Y on to offspring

All matings = 50% chance of


male or female offspring
SEX LINKED TRAITS
TRAITS ARE LOCATED ON THE X CHROMOSOME

Sex linked = genes on the X chromosome


MALES will always express the trait
FEMALES have TWO X chromsomes and might NOT express

Sex chromosomes = X and Y Sex linked traits carried on


X chromosome
♀ = XX X ♂ = XY • Colorblindness
• hemophilia

Sex influenced traits autosomal


Dominant in one sex, recessive in
other sex
• Male pattern baldness
• Index finger

Sex limited traits autosomal


Expressed in one sex only
• Rooster/hen feathering
Colorblindness is a recessive, sex-
linked trait located on the X
chromosome. Gaspar is a colorblind
man, and his wife Stephanie is a
carrier for colorblindness.
If they have a male child, what is the
probability that their son will be
colorblind?

A. O% B. 25% C. 50% D. 100%


Used to determine familial traits as
PEDIGREE autosomal dominant/recessive
sex linked dominant/recessive
Chromosomal abnormalities
Caused by NONDISJUNCTION during meiosis
XXY Klinefelters Male karyptype

Trisomy 21 (Down syndrome) karyotype


Other potential chromosomal abnormalities (due to mutation)
Recommended videos

A beginners guide to Punnett Squares (Bozeman)


https://www.youtube.com/watch?v=Y1PCw

How Mendels Peas


https://www.youtube.com/watch?v=Mehz7tCxjSE

Mendelian genetics Bozeman


https://www.youtube.com/watch?v=NWqgZUnJdAY

non mendelian genetics (amoeba sisters)


https://www.youtube.com/watch?v=YJHGfbW55l0

Heredity (crash course)


https://www.youtube.com/watch?v=CBezq1fFUEA
Learning Goal

Students will be able to:

• Use Mendel's laws of segregation and independent assortment to


analyze patterns of inheritance

KEY VOCABULARY
Sample Essential Questions
Characteristic Trait
• How did Mendel’s Hybrid Pure bred
experiments shape the Gene Allele
science of genetics?
Locus Dominant
• How do math and probability
relate to science and Recessive Genotype
genetics? Phenotype Plieotropy
• How can our DNA be so Epistasis Monohybrid
alike, yet are so different? Dihybrid Homozygous
heterozygous