Mendelian Inheritance Part 1

Prepared By: Asst. Prof. Sheryl Santa Cruz- Biscocho

Gregor Mendel 1823-1884

Father of Genetics Monk in Austria Experimented with garden peas

Tall
Short

Tall

Mendels Hypotheses
Each parent has two factors (alleles) Each parent gives one of those factors to the offspring Tall has TT Short has tt Tall is DOMINANT Short is recessive
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TT

tt

Tt
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TT

TT

TT
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tt

tt

tt
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Law of Segregation
Alleles separate during gamete production Gametes have one allele for each trait During fertilization gametes combine at random to form individuals of the next generation

Discovery of Chromosomes in 1900 Confirmed Law of Segregation

Chromosomes are in pairs Each chromosome has one of the allele pair

Meiosis Metaphase
Chromosomes line up in a double row.

T T

t t

Assume a T allele on each red chromatid and a t allele on each blue chromatid 10

Chromosomes separate
Each each daughter cell gets doubled chromosomes

T T

t
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Doubled Chromosomes Separate in Second Meiotic Division

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Each gamete will have a T allele or a t allele

T T t t

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Allele
Member of a paired gene
One allele comes from each parent

Represented by a single letter

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Dominant & Recessive Alleles

Dominant alleles are expressed Recessive alleles are not expressed in the presence of a dominant allele
Recessive alleles are only expressed if both recessive alleles are present

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Gene
A unit of heredity that controls the development of one trait Made of DNA Most genes are composed of two alleles

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Homozygous
Both alleles alike AA or aa

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Heterozygous
Alleles are different Aa

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Genotype
Genetic make up Represented by alleles TT & Tt are genotypes for TALL pea plants

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Phenotype
A trait Genotype determines the phenotype Tall is a phenotype

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Homologous Chromosomes
Chromosomes of the same pair Each homologue will have one allele for a paired gene Homologous chromosomes pair up during meiosis Only one of each homologue will be in each gamete
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Sickle Cell Anemia

RBCs sickle shaped Anemia Pain Stroke Leg ulcers Jaundice Gall stones Spleen, kidney & lungs
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Sickle Cell Anemia

Recessive allele s, codes for hemoglobin S
Long rod-like molecules Stretches RBC into sickle shape

Homozygous recessive ss, have sickle cell anemia Heterozygous Ss, are carriers

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Albinism
Lack of pigment
Skin Hair Eyes

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A
Enzyme

Amino Acids

Melanin Pigment

AA = Normal pigmentation

Aa = Normal pigmentation
aa = Albino
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PKU Disease
Phenylalanine excess Mental retardation if untreated

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P
Enzyme

Phenylalanine

Tyrosine

PP = Normal Pp = Normal pp = PKU

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Monohybrid Cross or One Trait

If a man & woman are both carriers (heterozygous) for albinism. What is the chance their children will inherit albinism? Solve using punnet square use letter a.

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AA = Normal pigmentation

Aa = Normal pigmentation (carrier) aa = Albino

Man = Aa

Woman = Aa

a
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AA

Aa

Aa

aa

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AA

Aa

Genotypes
1 AA, 2Aa, 1aa

Phenotypes
Aa aa
3 Normal 1 Albino

Probability
25% for albinism

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If a man & woman are both carriers (heterozygous) for PKU disease. What is the chance their children will inherit PKU disease?

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PP = Normal Pp = Normal (carrier) pp = PKU disease

P
P PP

Pp

Pp

pp

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PP

Pp

Genotypes
1 PP, 2Pp, 1pp

Phenotypes
Pp pp
3 Normal 1 PKU disease

Probability
25% for PKU disease

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If a man with sickle cell anemia marries a woman who is a carrier. What is the chance their children will inherit sickle cell anemia?

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SS = Normal Ss = Normal (carrier) ss = Sickle Cell

S
s

Ss

ss

Ss

ss

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Ss

ss

Genotypes
2 Ss, 2ss

Phenotypes
Ss ss
2 Normal (carriers) 2 Sickle cell

Probability
50% for Sickle cell

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Dwarfism
Dwarfism = D Normal height = d

DD = Dwarfism Dd = Dwarfism dd = Normal height

Dwarf Band
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A man with heterozygous dwarfism marries a woman who has normal height. What is the chance their children will inherit dwarfism? Dwarfism is dominant.

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DD = Dwarf Dd = Dwarf

dd = Normal

d
D

Dd

Dd

dd

dd

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Dd

Dd

Genotypes
2 Dd, 2dd

Phenotypes
dd dd
2 Normal 2 Dwarfs

Probability
50% for Dwarfism

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Law of Independent Assortment

The inheritance of one gene does not influence the inheritance of another gene if they are on separate chromosomes. The gene for albinism does not affect the gene for dwarfism

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Dihybrid Cross or Two Traits

A heterozygous tall plant that is also heterozygous for yellow seeds is crossed with another plant with the same genotype Tall and yellow seeds are dominant to short and green seeds.

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What gametes can each parent produce?

Tall Yellow
TtYy

Tall Yellow
TtYy

TY Ty tY ty

TY Ty tY ty
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Match gametes on a Punnent Square

TY
TY TTYY Ty tY ty

Ty
TTYy

tY
TtYY

ty
TtYy 9 Tall-Yellow

TTYy
TtYY TtYy

TTyy
TtYy Ttyy

TtYy
ttYY ttYy

Ttyy
ttYy ttyy

3 Tall-Green
3 Short-Yellow 1 Short-Green
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A man with blue eyes and normal height marries a woman with heterozygous brown eyes and heterozygous dwarfism. What are the possible phenotypes of their children? Dwarfism & brown eyes are dominant.
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What gametes can each parent produce?

Normal height-Blue
ddbb

Dwarf-Brown
DdBb

db

DB Db dB db
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Match gametes on Punnent Square

db DB DdBb Dwarf-Brown eyes

Db
dB db

Ddbb

Dwarf-blue eyes
Normal height-Brown eyes Normal height-Blue eyes
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ddBb ddbb

X-linked Traits
Alleles on the X chromosome Women have two alleles Men have one allele

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Hemophilia
Blood clotting impaired Recessive allele, h carried on X cms X-linked recessive trait More common in males

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Alleles must be written on X chromosome

XH XH = Normal Female XH Xh = Normal Female (Carrier) Xh Xh = Hemophiliac Female

XHy =
Xhy =

Normal Male
Hemophiliac Male
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A man with hemophilia marries a normal woman who is not a carrier. What is the chance their children will inherit hemophilia? Hemophilia is X-linked recessive.

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XH XH = Normal Female XH Xh = Normal Female (Carrier) Xh Xh = Hemophiliac Female XHy = Normal Male

Xhy =

Hemophiliac Male

XH Xh XH X h

X
H

X H Xh

XHy

XHy
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XH Xh XH Xh

X
H

Genotypes

XH

Xh

2 XH

Xh, 2XHy

Phenotypes
y

XHy

2 Carrier Females

XHy

2 Normal Males

Probability
O% for Hemophilia

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A normal man marries a normal woman who is a carrier for hemophilia. What is the chance their children will inherit hemophilia?

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XH XH = Normal Female XH Xh = Normal Female (Carrier) Xh Xh = Hemophiliac Female XHy = Normal Male

Xhy =

Hemophiliac Male

XH XH XH X H

Xh X H Xh

XHy

X hy
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XH XH XH XH

Xh
Genotypes

XH

Xh

1XH XH, 1 XH Xh, 1XHy, 1 Xhy

Phenotypes
2 Normal Females

XHy

X hy

1 Normal Males
1 Male Hemophiliac

Probability
50% for Male Hemophiliac
0% for Female Hemophiliac
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Hypertrichosis
X-linked dominant Similar gene in apes

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