Heredity: Inheritance and Variation

What is genetics?
-science that deals with heredity and the factors affecting transmission of characteristics from one
generation to another.
Who is Gregor Mendel?
-the father of the science of genetics
Fundamentals of Genetics
• Alleles-different copies or forms of a gene controlling a certain trait.
• Homozygous- alleles for a certain organism are the same
• Heterozygous-alleles for a certain organism are different
• Genotype-genetic makeup or the combination of genes of an organism
• Phenotype-physical trait of an organism as shown externally in its appearance and as brought about by its
genetic makeup.
• Punnett square- a special grid consisting of boxes use to determine the possible genotypes and phenotypes
when two parents are crossed.
• Gametes-reproductive cells that unite during sexual reproduction to form new cell called zygote
Recall that in the Mendelian patterns of inheritance, the effects of the recessive gene are not observed when the
dominant gene is present.
Non-Mendelian inheritance is a general term that refers to any pattern of inheritance in which traits do not
segregate in accordance with Mendel’s laws.
Chromosomal Theory of Inheritance formulated by Sutton and Boveri explained that an inherited trait
is determined by the genes which are found in the chromosomes.
Chromosomes are structures found inside the nucleus of a cell that carries the genes.

1. Incomplete dominance is a form of intermediate inheritance in which one allele for a specific trait is not
completely dominant over the other allele. This results in a third phenotype in which the expressed
physical trait is a combination of the dominant and recessive phenotypes.
Examples:
Flowers such as carnations, roses and tulips  can inherit strange pigmentation during cross-
pollination. Pink flowers come about when a red and a white flowers are cross-pollinated and if
neither the red allele nor the white allele is dominant. The red pigmentation found in red flowers is
halved when cross-pollinated, resulting in a pink hue.
Red bulls being bred with white cows will often result in cows with a brown (or faded) coat and
spots of white (or vice versa) due to neither the white nor the brown pigmentation being dominant
over one another.
Tail length in dogs is directly impacted by incomplete dominance, with several short-tailed and
long-tailed dogs producing a dog whose tail length sits somewhere in between.
Physical features such as skin color are famous incomplete dominance examples. A dark-skinned
person and a light-skinned person will give birth to a child which has skin pigmentation somewhere
in between that of its parents.

2. Codominance results when one allele is not dominant over the other. The resulting heterozygotes exhibit
the traits of both parents. Instead of blending to create a new feature, in co-dominance, both alleles are
equally expressed and their features are both seen in the phenotype.
Examples:
People with blood type AB have A and B proteins at the same time. The ABO gene
determine what blood type a person has, and everyone has two copies of this gene, one from each
parent. There are several combinations of blood types that can result, but when a person has both an
A and a B allele, it will lead to blood types visible in the blood, AB.

Sample Genetics Problem:

1. In radishes, the gene that controls color exhibits incomplete dominance. Pure-breeding red
radishes crossed with pure-breeding white radishes make purple radishes. What are the
genotypic and phenotypic ratios when you cross a purple radish with a white radish?
2. Certain breeds of cattle show codominance in coat color. When pure breeding red cows are
bred with pure breeding white cows, the offspring are roan (cow with red and white blotches).
Give the genotypic and phenotypic percentages of the possible offspring when a roan cow is
mated with a roan bull.
 3. Multiple alleles is a type of non-Mendelian inheritance pattern that involves more than just the
typical two alleles that usually code for a certain characteristic in a species.
Example:
Human blood type is controlled by three alleles-IA, IB and i. Alleles IA and IB are dominant over I
but IA and IB are codominant.

Phenotype (blood type) Genotypes

A IAIA or IAi
B IBIB or IBi
AB IAIB
O ii

• In humans there are four blood types (phenotypes) A, B, AB, O.

• Blood type is controlled by three alleles: A, B, O
• O is recessive, two O alleles must be present for a person to have type O blood
• A and B are codominant. If a person receives an A allele and a B allele, their blood type is type
AB.
Why should we know our blood type?
• During a blood transfusion, an individual must receive a blood type that is compatible with his or
her own so that the donated blood is accepted.
• Compatible blood types are essential for organ transplants just as they are for blood transfusions.
If a person receives an organ from someone with an incompatible blood type, his or her body will
recognize the organ as foreign and destroy it.
• It is also important for an individual to know his or her blood type when considering blood
donation.
Blood Compatibility
Blood Type Receive Blood Give Blood
OO O only Any type
AB Any type AB only
AA, AO AA, AO, OO AA, AO, AB
BB, BO BB, BO, OO BB, BO, AB

Sample Genetics Problem:

1. A woman homozygous for blood type B marries a man that is heterozygous for blood type A. State the
possible phenotypic ratios of the offspring. 
2. A man with blood type O marries a woman with blood type AB. State the possible phenotypic ratios of
the offspring. 
3. A type B woman whose mother was type O marries a type O man. What are the possible phenotypic
ratios of their offspring? 
Sex Chromosomes and Sex Determination
Humans have 46 chromosomes in each cell. Observation of the human body cells shows 23 pairs of
chromosomes for both males and females. 22 pairs are somatic chromosomes (autosomes). The 23 rd pair consists
of sex chromosomes. Human males and some other male organisms such as other mammals and fruit flies have
non-identical sex chromosomes (XY). Females have identical sex chromosomes (XX)
 Sex Chromosome Disorders

Chromosomes are long, segments of genes that carry heredity information. They are composed
of DNA and proteins and are located within the nucleus of our cells. Chromosomes determine everything from
hair color and eye color to sex.
Inheritance of sex chromosomes in mammals:
Meiosis is the process of making gametes, also known as eggs and sperm in most animals. During
meiosis, the number of chromosomes is reduced by half, so that each gamete gets just one of each autosome and
one sex chromosome.
Female mammals make eggs, which always have an X chromosome. And males make sperm, which can
have an X or a Y. Egg and sperm join to make a zygote, which develops into a new offspring. An egg plus an X-
containing sperm will make a female offspring, and an egg plus a Y-containing sperm will make a male offspring.
 Female offspring get an X chromsome from each parent
 Males get an X from their mother and a Y from their father
 X chromosomes never pass from father to son
 Y chromosomes always pass from father to son

Sex-Related Inheritance

The inheritance of a trait (phenotype) that is determined by a gene located on one of the sex chromosomes.
Three Kinds
1. Sex-Linked
2. Sex-Limited
3. Sex-Influenced
Sex-Linked traits- traits which are controlled by the genes located in the sex chromosomes particularly the X
chromosomes. Males have only one X-chromosome thus if they inherit the affected X they will have the disorder.
Females have two X chromosomes. Therefore they can inherit/carry the trait without being affected if it acts in a
recessive manner.
Examples:
Hemophilia- (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot
normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also
may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can
damage your organs and tissues and may be life threatening.

Color blindness, or color vision deficiency, is the inability or decreased ability to see color, or
perceive color differences, under normal lighting conditions. The genes that produce photopigments are
carried on the X chromosome; if some of these genes are missing or damaged, color blindness will be
expressed in males with a higher probability than in females because males only have one X chromosome
(in females, a functional gene on only one of the two X chromosomes is sufficient to yield the needed
photopigments).
The genotypes and phenotypes of color blindness in humans
Genotype Phenotype
XX Normal female
XXc Normal female, carrier of the gene
c c
XX Color blind female
XY Normal male
XcY Color blind male
 Y-linked traits are called holandric traits. Example of this is hypertrichosis pinnae auris, a genetic
disorder in humans that causes hairy ears. Since the trait is found in the Y chromosome, then only males
can have the trait.
Sex-limited Traits- Are generally autosomal, means they are not found on the X or Y chromosome. Expressed
only in one gender.  
Example:
Lactation- In cattle, both male and female possess a gene pair for lactation. The gene for lactation
(L) is dominant over the non-lactating gene (l). These gene is expressed only in female cattle. In male
cattle it doesn’t matter if they possess one or two genes for lactation. They never produce milk.
Expression of Lactation in Cattle
Female Genotypes Female Phenotypes
XXLL Female lactating
XXL1 Female lactating
XX11 Female non-lactating
Male Genotypes Male Phenotypes
XYLL Male non-lactating
XYL1 Male non-lactating
XY11 Male non-lactating
Sex-influenced Traits- a trait controlled by a pair of alleles found on the autosomal chromosomes (pairs 1
through 22) but it’s phenotypic expression is influenced by the presence of certain hormones. (Estrogen,
Progesterone, Testosterone, etc.) This can be seen in both sexes, but will vary in frequency between the sexes, or
in the degree of the phenotypic expression.
Example:
Pattern of baldness in humans This gene has two alleles, “bald” and “non-bald”. The behaviors of
the products of these genes are highly influenced by the hormones in the individual particularly by the
hormone testosterone. Males have much higher levels of this hormone than females do. Thus in males,
the baldness allele behaves like a dominant allele while in females it behave like a recessive allele.
Expression of Baldness Pattern in Humans

Male Genotypes Male Phenotypes

XYBB Male bald
XYBb Male bald
XYbb Male nonbald
Female Genotypes Female Phenotypes
XXBB Female bald
XXBb Female nonbald
XXbb Female nonbald

 Sex-limited traits are those that are expressed exclusively in one sex
 Sex-influenced traits are expressed in both sexes but more frequently in one than in the other sex
Practice Genetic Problems:
1. In a cross between a white-eyed female fruit fly and red-eyed male, what percent
of the female offspring will have white eyes? (White eyes are X-linked, recessive)
2. A female Drosophila of unknown genotype was crossed with a white-eyed
male fly, of genotype   (w = white eye allele is recessive, w+= red-eye
allele is dominant.) Half of the male and half of the female offspring were red-
eyed, and half of the male and half of the female offspring were white-eyed.
What was the genotype of the female fly?
3. Sally and Sam, both of whom are normal marry and they have three children: (1)
Saul, a hemophiliac who marries a normal woman and has a daughter Sarah who is
normal; (2) a normal daughter, Sheryl, who marries a normal man and has a son
Solomon, who is a hemophiliac; and (3) Shirley, also normal who marries and has six
normal sons. Using the letters H and h for the normal and hemophilia genes
respectively and to represent the Y chromosome, determine the genotypes of
Sally, Sam, Saul, Sarah, Sheryl, Solomon and Shirley.
4. A male homozygous for clubfoot reproduces with a normal homozygous female.
What are the genotypes and phenotypes of their children if testosterone alters the
phenotypic expression of the trait in the heterozygous expression?
Let F represent normal feet
Let f represent clubfoot.
5. Two heterozygous individuals get married and have lots of children. The father
suffers with a painful condition called gout. What are the parent’s genotypes? What
are the genotypes and phenotypes of the children?
Let G represent no gout, and g represent gout.
What is DNA?
Deoxyribonucleic acid or DNA is a molecule that contains the instructions an organism needs to develop, live and
reproduce. These instructions are found inside every cell, and are passed down from parents to their children.
Where is DNA found?
1. DNA is found inside a special area of the cell called the nucleus (nuclear DNA).
2. Besides the DNA located in the nucleus, humans and other complex organisms also have a small amount
of DNA in cell structures known as mitochondria (called mitochondrial DNA or mtDNA). Mitochondria
generate the energy the cell needs to function properly.
In sexual reproduction, organisms inherit half of their nuclear DNA from the male parent and half
from the female parent. However, organisms inherit all of their mitochondrial DNA from the female
parent. This occurs because only egg cells, and not sperm cells, keep their mitochondria during
fertilization.
The basic building block of DNA is nucleotide
The nucleotide in DNA consists of a sugar
(deoxyribose), one of four bases (cytosine (C), thymine
(T), adenine (A), guanine (G)), and a phosphate.
Cytosine and thymine are pyrimidine bases, while
adenine and guanine are purine bases. The sugar and
the base together are called a nucleoside.

Key Concepts
DNA is composed of chains of nucleotides built on a sugar and phosphate backbone and wrapped
around each other in the form of a double helix. The backbone supports four bases: guanine, cytosine,
adenine and thymine. Guanine and cytosine are complementary always appearing opposite each other on
the helix as are adenine and thymine. This is critical in the reproduction of the genetic material as it
allows a strand to divide and copy itself, since it only needs half of the material in the helix to duplicate
successfully.
DNA is a double-stranded polynucleotide that carries the genetic code. It is the unit of heredity. It
is formed by hydrogen bonding between complementary base pairs on two antiparallel DNA strands
which allow it to unzip easily. Twisting of the molecule results in a
twisted double helix shape. It replicates semi-conservatively.
A gene is a portion of DNA that occupies a specific locus in the
chromosome and contains the genetic code for the expression of a
particular inherited character. Genes are passed on from parents to
offspring and form the basis of transmission of hereditary information
from one generation to the next.
Because they contain the self-replicating genetic material
deoxyribonucleic acid (DNA), chromosomes perform the following
functions:
• The storage of genetic information
• Provide the genetic code to control the expression of inherited
characters
• Transmit hereditary information from cell to cell and from
generation to generation
• Undergo change in structure and number to produce variations in
inherited characters