9/22/2015

Mendel and His Experiments Mendel and His Experiments

•Gregor Johann Mendel

•Gregor Mendel – Father of Modern Genetics
– discovered the fundamental
principles of genetics by breeding
garden peas
•July 20, 1822 – January 6, 1884
•Augustinian friar
•Abbot of St. Thomas Abbey in Brno
• Presented his paper Versuche über
Pflanzenhybriden (Experiments on
Plant Hybridization) at two
meetings of the Natural History
Society of Brünn in Moravia in 1865
•Died of chronic nephritis

Mendel and His Experiments Mendel and His Experiments

•Why garden peas?

•Have both stamens and carpal
 self- or cross-fertilization
•Short generation time
•Produce many offspring
•Easy to care for
•Many paired characteristics
Garden pea
(Pisum sativum)

•Mendel’s experiment Mendel and His Experiments

Parental Generation Purple x White
(pure)

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Mendel and His Experiments

Pp (purple) x Pp (purple)

Mendel and His Experiments

•A test cross, breeding a

homozygous recessive
with dominant phenotype,
but unknown genotype,
can determine the identity
of the unknown allele

•Pairs of alleles found

on different loci
(chromosomes) assort
independently of each
other

Mendel’s garden in Brno

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Recall: Probability Rules Recall: Mendelian Assumptions

•Product Rule • Each individual has a pair of factors (alleles) for

•The combined probability of two INDEPENDENT each trait
events is equal to the product of their individual
probabilities • These alleles are found in the nucleus

• If two different types of alleles are found in

•Sum Rule
•The combined probability of two MUTUALLY
EXCLUSIVE events is equal to the sum of their
individual probabilities.
one locus, one allele (dominant) will mask the
effect of the other (recessive)
• The trait expressed by each locus is completely
expressed

• No mutation has taken place

1st Mendelian Law: Law of Segregation 2nd Mendelian Law: Law of Independent Assortment

• The factors (alleles) segregate (separate) during

gamete (sperm & egg) formation • The pair of factors for one trait segregate
independently of the factors for other traits
• Each gamete contains only one factor (allele) from
each pair • All possible combinations of factors can occur
in the gametes
• Fertilization gives the offspring two factors for each
trait

Chromosomal Basis of Inheritance Mendelian Ratios

Cross Genotypic Ratio Phenotypic Ratio

DD x DD (1) DD (1) D_
DD x Dd (½) DD, (½) Dd (1) D_
Dd x Dd (¼) DD, (½) Dd, (¼) dd (¾) D_, (¼) dd
Dd x dd (½) Dd, (½) dd (½) D_, (½) dd
DD x dd (1) Dd (1) D_
dd x dd (1) dd (1) dd

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•Some examples of simple Mendelian traits in humans •Some examples of simple Mendelian traits in humans

DOMINANT recessive DOMINANT recessive

FREE earlobe attached earlobe FREE earlobe attached earlobe
FINGER HAIR no finger hair FINGER HAIR no finger hair
FRECKLES no freckles FRECKLES no freckles
WIDOW’S PEAK no widow’s peak WIDOW’S PEAK no widow’s peak
NORMAL thumb hitchhiker’s thumb NORMAL thumb hitchhiker’s thumb

Widow’s peak Straight hairline

Finger hair Free earlobe Attached earlobe
Freckles Normal thumb Hitchhiker’s thumb

• Achondroplasia • Xeroderma pigmentosum (XP)

– have short stature, with an average adult height of 4 feet, 3.8
inches for males and 4 feet, 0.6 inches for females
– autosomal dominant mutation in the fibroblast growth factor
receptor gene 3 (FGFR3) found on 4p16.3, which causes an
abnormality of cartilage formation
– Genetic disorder of DNA repair due to UV exposure
– Autosomal recessive trait
– Multiple basal cell carcinomas (basaliomas) and other
skin malignancies occur at a young age

– homozygote dominants are usually lethal

Child with XP exposed to UV

Child with XP wearing a
protective suit

• Polydacytly • Polydacytly
– a congenital physical anomaly in humans, dogs, cats and – a congenital physical anomaly in humans, dogs, cats and
having supernumerary fingers or toes having supernumerary fingers or toes
– autosomal dominant mutation – autosomal dominant mutation

Postaxial Preaxial Mid-ray

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Extension of Probability and Genetic Events

Consider the following crosses in Drosophila. Based on the results, deduce which
alleles are dominant and the genotypes of the parents
•Binomial Theorem
Parents Offspring

Brown- Brown- Red- Red-

• Involves cases where one of two alternative
long vestigial long vestigial outcomes is possible during each of a number
1. Brown-long x 78 24 0 0 of trials
Brown-long

2. Red-long x 30 27 98 95 • Can quickly calculate the probability of any

Red-vestigial
specific set of outcomes among a large
3. Red-vestigial x 0 0 80 87 number of potential events
Red-long

4. Red-long x 45 16 139 51
Red-long (a + b)n = 1
5. Red-vestigial x 48 42 46 45
Brown-long

Chi Square Test

A man and a woman, both of whom are heterozygote normal for
skin pigmentation, decide to have 6 children. • A test for goodness of fit

1. How many combinations are possible where two are normal

• Examines how well observed data fit or differ
and four are with albinism? from predicted or expected occurrences.
(o – e)2
2. What is the probability that all children will be normal? X2 = 
e
3. What is the probability that three children will be normal and • Where o = observed data
three will have albinism? e = expected data
4. What is the probability that the first child is normal, the second df = degree of freedom; n – 1
is albino, the third is normal, the fourth is albino, the fifth is
normal, and the sixth is albino? • Where n = # of observed categories
critical p = 0.05

A cross between two purple-flowered and yellow-seeded CHI SQUARE TABLE

pea plants yielded the following results:

purple flowers, yellow seeds: 587

purple flowers, green seeds: 197
white flowers, yellow seeds: 168
white flowers, green seeds: 56

1. What are the most probable genotypes of the parental

strains?

2. Prove your hypothesis by conducting a Chi square

test.

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Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Incomplete Dominance •Incomplete Dominance
•Co-Dominance •The heterozygote condition is intermediate between the
•Pleiotropy two extreme phenotypes
•Multiple Alleles
•Extrachromosomal Inheritance
•The genotypic ratio is also the phenotypic ratio
•Lethal Genes
•Epistasis
•Polygenic Inheritance
•Sex-Related Traits
•Sex-Influenced Traits
•Sex-Limited Traits
•Sex-Linked Traits

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Incomplete Dominance •Incomplete Dominance

•Radish (Raphanus) shape
•Flower color in snapdragons
(Antirrhinum majus)

•One allele (a1) codes for the

active enzyme that affects the
rate of synthesis of anthocyanin
pigment; the other (a2) for the
inactive enzyme

Elongated Oval Round

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Incomplete Dominance •Co-Dominance

•Hair type in humans •The heterozygote condition manifests BOTH extreme
•The amount of curl is determined by the number of phenotypes
disulfide bonds between keratin molecules.
•The genotypic ratio is also the phenotypic ratio

Curly Wavy Straight

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Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Co-Dominance •Co-Dominance
•Shorthorn cattle coat color •The MN blood group system in humans
•Presence of two alleles: M & N
•Red x white = roan
•Alleles determine the type of glycophorins
present on the erythrocyte membrane

Alleles present Blood Type

MM M
MN MN
NN N

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Co-Dominance •Pleiotropy
•The MN blood group system in humans •One gene pair, many effects
•Philippine data (Arcellana et al. 2011) •Affected individuals may express different subsets of
•MM – 37.52% symptoms that may superficially appear as if they are
•MN – 45.84% caused by different disorders
•NN – 16.64%

•Based on 541 individuals

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Pleiotropy •Multiple Alleles

•Phenylketonuria (PKU) •There are at least three types of alleles for a particular trait,
•Caused by any mutation in the gene that codes for the with two alleles occupying a single locus at any given time
phenylalanine hydroxylase enzyme that converts
phenylalanine (Phe) to tyrosine (Tyr) •Dominance hierarchy may be exhibited

•Type of mutation could lead to reduced or no Phe conversion

•Phe accumulation can be toxic
• Mental retardation
• Reduced hair and skin pigmentation
•Manifestation could also be affected by Phe in the diet

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Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Multiple Alleles •Multiple Alleles

Phenotype Genotype
•Coat color in rabbits •Note:
Agouti CC, Ccch, Cch, Cc
•C > cch > ch > c Chinchilla c cch, cchch, cchc
ch

Himalayan chch, chc # of alleles in a # of genotypes

Albino cc series
2 3
3 6
4 10
5 15
n (n/2)(n+1)

Agouti Chinchilla Himalayan Albino

Non-Mendelian Modes of Inheritance •Inheritance of Blood Type

•Multiple Alleles
•ABO blood typing in humans

Alleles present Blood Type

AA, AO A
BB, BO B
AB AB
OO O

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Multiple Alleles •Multiple Alleles

•ABO blood typing in humans •Human leukocyte antigen (HLA) genes in humans
•Note: Bombay phenotype •genes that code for the HLA proteins
•First detected in a woman in Bombay •Cell surface proteins that are involved in the
•Has an incomplete H substance acceptance or rejection of tissue and organ grafts and
•Precursor molecule of antigens A and B (which are transplants
made up of lipids and carbohydrates) •Closely linked genes found in chromosome 6 in humans
•One or two terminal sugars are added to the H
substance to form either A or B antigen
•People recessive for the trait (hh) will have an
incomplete H substance, and no functional antigen will
be produced
People with this trait will functionally be type O even if
Chromosome 6
they have the A or B antigen.

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Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Multiple Alleles •Multiple Alleles

•Human leukocyte antigen (HLA) genes in humans •Human leukocyte antigen (HLA) genes in humans
•There are 2 classes of genes •Haplotype
•Class I •allelic combination of HLA on a single chromosome
•HLA-A (with 23 kinds of alleles)
•HLA-B (with 47 kinds of alleles)
•HLA-C (with 8 kinds of alleles)
•Class II
•HLA-DP (with 6 kinds of alleles)
•HLA-DQ (with 3 kinds of alleles)
•HLA-DR (with 14 kinds of alleles)
•Alleles also behave in a co-dominance fashion
•Millions of phenotypic combinations are possible
•(A third class has been found)

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Extrachromosomal Inheritance •Extrachromosomal Inheritance

•The inheritance of the traits are determined by the genes •Maternal effects
found outside the nuclei, i.e. mitochondria and chloroplasts • Pattern of offspring determined by genotype of mother,
•i.e. Human mitochondrial diseases regardless of phenotype
•Maternally inherited only offspring of affected mothers •shell coiling in Limnaea peregra
are affected

•Myoclonic epilepsy and ragged red fiber

disease (MERRF)

– deafness, dementia, seizures

– caused by a point mutation in a
mitochondrial tRNA

Non-Mendelian Modes of Inheritance

•Extrachromosomal Inheritance
•Maternal effects
•shell coiling in Limnaea peregra
•shell coiling is determined by the first few cell divisions
of the zygote
•Cell division spindle is spiral and is displaced either to
the left or right based on the maternal genotype.

•Effect is transmitted through the egg cytoplasm for one

generation only because in the following generation, the
new egg cytoplasm formed will be based on the new
maternal genotype.

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Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Lethal Genes •Lethal Genes

•Genes with effects drastic enough to cause death of the •Coat color in mice
individual at the embryonic stage •Yellow fur color heterozygous
(Ay/a)
•Sublethal genes shorten the normal life expectancy of an
individual •Hybrids yield phenotypic ratio
of 2/3 yellow and 1/3 agouti
•Hybrids associated with
obesity, diabetes, and tumors
•Ay/Ay genotypes result in
preimplantation embryonic lethality
•Ay mutation disrupts the structure and expression of the Raly
gene that codes for an RNA binding protein expressed
throughout development

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Lethal Genes •Sublethal Genes

• Achondroplasia • Xeroderma pigmentosum (XP)
– homozygote dominants are usually lethal – Multiple basal cell carcinomas (basaliomas) and other
skin malignancies occur at a young age

Child with XP exposed to UV

Child with XP wearing a
protective suit

Non-Mendelian Modes of Inheritance Non-Mendelian Modes of Inheritance

•Epistatic Genes Phenotypic Ratio

•Gene interaction where some genes may mask or hide A_B_ A_bb aaB_ aabb
the effect of other genes Classical Mendelian 9 3 3 1
Dominant Epistasis 12 3 1
•Epistatic genes – mask other genes
Recessive Epistasis 9 3 4

•Hypostatic genes – genes that are masked Duplicate Genes With 9 6 1

Cumulative Effect
Duplicate Dominant Genes 15 1
Duplicate Recessive Genes 9 7
Dominant and Recessive 13 3
Interaction

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Non-Mendelian Modes of Inheritance

•Epistatic Genes
•Coat color in mice
•BbCc (black) x BbCc (black)

•B_C_ - 9/16 Black

•bbC_ - 3/16 Brown

•B_cc - 3/16
Albino
•bbcc - 1/16

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