CYTOGENETICS

GENE INHERITANCE & MENDEL'S LAWS

(MODULE 4)
GENE AS A UNIT OF INHERITANCE

GENES

 are the basic units of heredity, which is the transmission of inherited traits.
 are composed of biochemical instructions that tell cells, the basic units of life, how to manufacture
certain proteins.
o these proteins control the expression of its characteristics.
 is the long molecule deoxyribonucleic acid (DNA) of which that transmits information, in its sequence of
four types of building blocks (Figure 4.1).

Gregor Mendel was the first to probe the underlying rules of inheritance of specific traits. Mendel described
units of inheritance that pass traits from generation to generation and called them “elementen” (which would
be later on renamed to genes by English embryologist William Bateson).

After several years of research, Mendel drew the following conclusions in modern genetic terminology:

1. The characteristics of the plants were governed by distinct factors (or units) of inheritance, which were
later termed genes. An individual plant possessed two copies of a gene that controlled the
development of each trait, one derived from each parent. The two copies could either be identical to
one another or nonidentical. Alternate forms of a gene are called alleles. For each of the seven traits
studied, one of the two alleles was dominant over the other. When both were present together in the
same plant, the existence of the recessive allele was masked by the dominant one.
2. Each reproductive cell (or gamete) produced by a plant contained only one copy of a gene for each
trait. A particular gamete could have either the recessive or the dominant allele for a given trait, BUT
NOT BOTH. Each plant arose by the union of a male and a female gamete. Consequently, one of the
alleles that governed each trait in a plant was inherited from the female parent, and the other allele
was inherited from the male parent.
3. Even though the pair of alleles that governed a trait remained together throughout the life of an
individual plant, they became separated (or segregated) from one another during the formation of
gametes. This formed the basis of Mendel’s First Law: Law of Segregation.
4. The segregation of the pair of alleles for one trait had no effect on the segregation of alleles for
another trait. A particular gamete could receive a paternal gene governing seed color and a maternal
gene governing seed shape. This formed the basis of Mendel’s Second Law: Law of Independent
Assortment.
GREGOR MENDEL

The science of Genetics began in the 1860s with the work of Gregor Mendel, dubbed now as the Father of
Genetics.

He eventually became a priest at an atypical Augustinian monastery where the priests did research in natural
science.

Here, Mendel learned how to artificially pollinate crop plants to control their breeding.

Mendel got himself confounded about a question – Why did certain traits disappear in one generation,
yet reappear in the next?

 He had a clear experimental plan in mind: to cross pea plants having inheritable characteristics and to
determine the pattern by which these characteristics were transmitted to the offspring.
 He derived two hypotheses to explain how inherited traits are transmitted like the reappearance of
traits in the third generation.
 Mendel chose to focus on 7 clearly definable traits, each of which occurred in two alternately
identifiable forms.

MENDEL’S PEA PLANT EXPERIMENTS

 Mendel crossbred plants through several generations and counted the number of individuals having
various characteristics.
o Figure 4.2 shows the seven traits of Mendel’s pea plants.
o The first generation is the first filial generation, or F1; the next generation is the second filial
generation, or F2, and so forth.
o Mendel’s first experiments dealt with single traits with two expressions, such as “short” and “tall”.
o He noted that short plants crossed to other short plants were “true-breeding”, always producing
short plants.
o The crosses of tall plants to each other were more confusing since tallness could mask shortness.
o One trait that masks another is said to be dominant; the masked trait is recessive.
 Mendel conducted up to 70 hybrid crosses for each of the seven traits.
o Because one trait is followed and the parents are hybrids, this is called a monohybrid cross.
o When Mendel allowed the non-true-breeding tall plants-monohybrids-to self-fertilize, the progeny
was ¼ short and ¾ tall plants (Figure 4.3).
o Furthermore, he found out that ⅔ of the tall plants from the monohybrid F1 cross were non-true-
breeding, and the remaining third were true-breeding.
MENDELIAN LAWS: LAW OF SEGREGATION

Hybrids from experiments were observed to hide one expression of a trait which reappears upon self-
crossing. This is due to genes being distributed by gametes where cells physically link generations. Paired sets
of genes separate as gametes form then combine anew when gametes join at fertilization. Mendel reasoned
that each gene was packaged in a separate gamete and this was later called as the Law of Segregation.

MENDEL’S FIRST LAW: LAW OF SEGREGATION

The LAW OF SEGREGATION reflects the actions of chromosomes and genes during meiosis. Because a
gene is a long sequence of DNA, it can vary in many ways. An individual with two identical alleles for a gene is
homozygous for that gene. An individual with two different alleles is heterozygous – or what Mendel called
“non-true-breeding” or “hybrid”. When considering a gene with two alleles, the dominant one is shown as a
capital letter and the recessive one in small letters.
 An organism’s appearance does not always reveal its alleles. Both a TT and a Tt pea plant are tall, but
TT is a homozygote and Tt a heterozygote. The genotype describes the organism’s alleles, and the phenotype
describes the outward expression of an allele combination. A wild type phenotype is the most common
expression of a particular allele combination in a population. A mutant phenotype is a variant of a gene’s
expression that arises when the gene undergoes a change, or mutation.

In Figure 4.4 illustrates that during meiosis, homologous pairs of chromosomes and their genes
separate and are packaged into separate gametes. At fertilization, gametes combine at random. Green and
blue denote different parental origins of the chromosomes. This cross yields offspring of genotypes TT and Tt.

When Mendel crossed short plants (tt) with true-breeding tall plants (TT), the seeds grew into F1
plants that were all tall (genotype Tt). Next, he self-crossed the F1 plants. The progeny were TT, tt and Tt.
Because two of the four possible gamete combinations produce a heterozygote, and each of the others
produces a homozygote, the genotypic ratio expected of a monohybrid cross is 1TT: 2Tt: 1tt. The
corresponding phenotypic ratio is three tall plants to one short plant, a 3:1 ratio. A diagram called a Punnett
square shows these ratios in Figure 4.5.

A Punnett Square illustrates how alleles combine in

offspring. The different types of gametes are listed along two
sides of the square. Each compartment displays the
genotype that results when gametes correspond to that
compartment join.

Mendel distinguished the two genotypes resulting in

tall progeny – TT from Tt with more crosses. Crossing an
individual of unknown genotype with a homozygous
recessive individual is called a test cross.

The logic is that the homozygous recessive is the

onlygenotype that can be identified by its phenotype – that
is, a short plant is always tt. The homozygous recessive is
a“known” that can reveal the unknown genotype of another
individual to which it is crossed.

Figure 4.6 shows that breeding a tall pea plant with

homozygous recessive short plants reveals whether the tall
plant is true-breeding (TT) or non-true breeding (Tt).
Punnett squares usually indicate only the alleles.
SINGLE-GENE INHERITANCE

Mendel’s Law of Segregation addresses traits determined by single genes. Inheritance of single genes
is also called Mendelian, or monofactorial, inheritance. These disorders, such as sickle cell disease or muscular
dystrophy, are rare compared to infectious diseases, cancer and multifactorial disorders.

Single-gene inheritance is more complicated than it might appear from obvious traits. Through
sequencing of the human genome, phenotypes associated with single genes are revealed to be influenced by
other genes as well as other environmental factors. Eye color is a great example of single-gene inheritance
(Figure 4.7).

Most people have brown eyes; blue and green eyes are exclusively from European descent. The color
of the iris is due to melanin produced by melanocytes and stored in melanosomes found in the outermost layer
of the iris. People differ in the amount of melanin and # of melanosomes, but have same number of
melanocytes in the eyes.Wild type human eyes are brown because this is the most common phenotype in the
global human population.

 A single gene on chromosome 15, OCA2 gene confers eye color by controlling melanin synthesis.
o If this gene is missing, albinism and red eyes would manifest physically.
o A recessive allele of this gene confers blue eyes.
o A dominant allele of this gene confers brown eyes.
 A second gene on chromosome 15 or the HERC2 gene is responsible for controlling the expression of
the OCA2 gene.
 A certain SNP (genetic variation in people) in HERC2 abolishes the control over OCA2, and blue eyes
result.
 A person must inherit two copies of this SNP to have blue eyes as shown in Figure 4.8.

Figure 4.8 How blue eyes are manifested

MODES OF INHERITANCE

Modes of Inheritance are rules that explain the common patterns of single-gene transmission which
makes it possible to calculate the probability that a particular couple will have a child who inherits a particular
condition. The way that a trait is passed depends on whether the gene that determines it is on an autosome or
on a sex chromosome, and whether the particular allele is recessive or dominant.

Autosomal dominant inheritance shows that a trait can appear in either sex because an autosome
carries the gene. If a child has the trait, at least one parent also has it. That is, autosomal dominant traits do
not skip generations. If no offspring inherit the trait in one generation, its transmission stops because the
offspring can pass on only the recessive form of the gene.

 Criteria for an Autosomal Dominant Trait:

o Males and Females can be affected. Male-to-male transmission can occur.
o Males and Females transmit the trait with equal frequency.
o Successive generations are affected.
o Transmission stops after a generation in which no one is affected.

Huntington’s disease is an example of an autosomal dominant condition, caused by a single dominant

allele which means that heterozygous individuals will develop the disease. It is a “gain of function” disorder”
because individuals who are missing one copy of the gene do not have the illness. This disease is sometimes
called as Huntington’s chorea and is said to be a rare and fatal inherited disease of the central nervous system
(Figure 4.9) causing damage to brain cells, leading to a gradual loss of coordination, decline in mental ability
and changes in personality.

Figure 4.9 Huntington’s Disease

Figure 4.10 Autosomal dominant inheritance

The Punnett square shown in Figure 4.10 depicts that, when one parent has an autosomal dominant
condition and the other does not, each offspring has a 50% probability of inheriting the mutant allele and the
condition. The affected parent is Aa here, and not AA, because for many dominant disorders, the homozygous
dominant (AA) phenotype is either lethal or very rare because both parents of the person with the AA
genotype would have to have the disorder.
 Autosomal recessive inheritance shows that a trait can appear in either sex. Affected individuals have a
homozygous recessive genotype, whereas in heterozygotes (carriers) the wild type allele masks expression of
the mutant allele. If a couple has a child with an autosomal recessive illness, each of their next children faces
the same 25% risk of inheriting the condition.

 Criteria for an Autosomal Recessive Trait:

o Males and females can be affected.
o Affected males and females can transmit the gene, unless it causes death before reproductive
age.
o The trait can skip generations.
o Parents of an affected individual are heterozygous or have the trait.

Most autosomal recessive conditions appear unexpectedly in families. However, this situation is more
likely to recur when blood relatives have children together. The higher risk of having a child with a particular
autosomal recessive condition is because the related parents may carry the same alleles inherited from an
ancestor that they have in common like a grandparent.

The Punnett square shown in Figure 4.11 depicts a harmless trait, curly hair. A 1:2:1 genotypic ratio
results from a monohybrid cross, whether in peas or people. Curly hair (C) is dominant to straight hair (c).
This pedigree depicts a monohybrid cross for curly hair.

Determining whether an allele is dominant or recessive is critical in determining the risk of inheriting a
particular condition (phenotype). Dominance and recessiveness arise from the genotype, and reflect the
characteristics or abundance of a protein.

Figure 4.11 Autosomal recessive inheritance

Recessive disorders tend to be more severe, and produce symptoms earlier than dominant disorders.
Disease causing recessive alleles remain in populations because healthy heterozygotes pass them to future
generations. In contrast, if a dominant mutation arises that harms early in life, people who have that allele are
either too ill or do not survive long enough to reproduce. The allele eventually becomes rare in the population
unless it arises anew by mutation.
 Dominant disorders whose symptoms do not appear until adulthood remain in population because they
do not affect health until after a person has reproduced.

MENDELIAN LAWS: LAW OF INDEPENDENT ASSORTMENT

The Law of Segregation follows the inheritance of 2 different traits, each from a gene with 2 different alleles.

MENDEL’S SECOND LAW: LAW OF INDEPENDENT ASSORTMENT

The LAW OF INDEPENDENT ASSORTMENT states that for two genes on different chromosomes, the
inheritance of one does not influence the chance of inheriting the other. Thus, they “independently assort”
because they are packaged into gametes at random (Figure 4.12). The independent assortment of genes
carried on different chromosomes results from the random alignment of chromosome pairs during metaphase
of meiosis I.

An individual of genotype RrYy, for example, manufactures four types of gametes containing the
dominant alleles of both genes (RY), the recessive alleles of both genes (ry), and a dominant allele of one with
a recessive allele of the other (Ry or rY). The allele combination depends upon which chromosomes are
packaged together in a gamete – and this happens at random.

When he crossed true-breeding plants that had round, yellow seeds to true-breeding plants that had
wrinkled, green seeds, all the progeny had round, yellow seeds. These offspring were double heterozygotes or
dihybrids of genotype RrYy. From their appearance, it was deduced that round is dominant to wrinkled, and
yellow to green.

The resulting dihybrid plants were then self-crossed in a dihybrid cross because two genes and traits
are followed. Mendel found four types of seeds in the next, third generation: round, yellow seeds; round,
green seeds; wrinkled, yellow seeds; and wrinkled, green seeds. These classes occurred in a ratio of 9:3:3:1.
 Figure 4.13 shows Mendel’s results from his experimental dihybrid cross showing an eventual ratio of
9:3:3:1. A Punnett square of this dihybrid cross (Figure 4.14) can represent the random combinations of
gametes produced by dihybrid individuals.

Figure 4.14 Product rule of dihybrid cross

Mendel’s Law of Independent Assortment considers genes transmitted on different chromosomes. In a

dihybrid cross of heterozygotes for seed color and shape, the phenotypic ratio of 9:3:3:1 revealed that
transmission of one gene does not influence that of another. Meiotic events explain independent assortment.
Punnett squares and probability can be used to follow independent assortment.
PEDIGREE CHART ANALYSIS

Pedigree charts display family relationships and depict which relatives have specific phenotypes and
genotypes. To further understand and analyze a pedigree chart better, take note of the following symbols
found in Figure 4.15.

Pedigree charts display easily the modes of inheritance. See Figure 4.16 as an example. Albinism is an
autosomal recessive inherited disorder. Albinism affects both males and females and can skip generations, as
it does here in generations I and II in this pedigree. Homozygous recessive individuals in the third (F2)
generation lack an enzyme necessary to manufacture melanin. The South African children with albinism in the
right picture stand out from their dark-skinned classmates.

Figure 4.15 Legend for Pedigree Analysis

Pedigree charts could also be inconclusive. See Figure 4.17 where this pedigree chart could account for
an autosomal dominant trait or an autosomal recessive trait. This sample trait can be passed in an autosomal
dominant mode because it affects both males and females in every generation. However, the chart can also
depict autosomal recessive inheritance if the individuals represented by unfilled symbols are carriers.
Inconclusive pedigrees arise when families are small and the trait is not severe enough to impair fertility.
 Figure 4.17 Inconclusive Pedigree Chart

GENE EXPRESSION APPEARS TO ALTER MENDELIAN RATIOS

Mendel’s crosses yielded offspring that were easily distinguished. In other cases, transmission patterns
of a visible trait are not consistent with autosomal recessive or autosomal dominant inheritance. In these
instances, either the nature of the phenotype of influences from other genes or the environment alter
phenotypic ratios. The following are several circumstances in which phenotypic ratios appear to contradict
Mendel’s laws – but the laws still apply.

 LETHAL ALLELE COMBINATIONS - A genotype (allele combination) that causes death is, by definition,
lethal. Death from genetic disease can occur at any stage of life. In an evolutionary sense, a lethal
genotype has a more specific meaning – it causes death before the individual can reproduce, which
prevents passage of genes to the next generation. Some examples include:
o Tay-Sachs disease, causing neuron degeneration in the brain and spinal cord, is lethal by age 3
or 4.
o Huntington’s disease may not be lethal until late middle age.
o Early acting lethal alleles in humans cause spontaneous abortion.
o Achondroplastic dwarfism or long trunk and short limbs is also a lethal genotype in humans.
 MULTIPLE ALLELE COMBINATIONS – A gene can exist in more than two allelic forms in a population
because it can mutate in many ways wherein the sequence of hundreds of DNA bases that make up a
gene can be altered in many ways. Allele identification can predict severity and types of symptoms in:
o Phenylketonuria (PKU) where too little or lack of an enzyme causes the a.a. phenylalanine to build
up in brain cells resulting to hundreds of mutant alleles pair to cause 4 basic phenotypes:
 classic PKU with mental retardation;
 moderate PKU;
 mild PKU; and
 asymptomatic PKU with excretion of excess phenylalanine in urine.
o Cystic Fibrosis wherein one genotype experiences frequent, severe respiratory infections,
congested lungs, and poor weight gain while another genotype experiences frequent bronchitis
and pneumonia.
 DIFFERENT DOMINANCE RELATIONSHIPS – there are three types to this and they are the following:
o Complete Dominance is where one allele is expressed, while the other isn’t.
o Incomplete Dominance is where the heterozygous phenotype is intermediate between that of
either homozygote.
 It is more frequent for morphologic traits than for molecular traits.
 Familial Hypercholesterolemia is an example of disease associated with this type of dominance.
 Another simple example is the color pink of snapdragon flower that is formed is intermediate
between red and white from the parent flowers.
o Codominance is where different alleles are both expressed in a heterozygote.
 It is more frequent for molecular traits than for morphologic traits.
 The ABO Blood Group is based on the expression of codominant alleles.
 ABO Blood Group are determined by polysaccharides present on the surface of RBCs.
 Both A and B polysaccharides are formed from a precursor substance that is modified by the
enzyme product of either the IA or the IB allele.
 The gene products are transferase enzymes that attach either of two types of sugar units to the
precursor (Figure 4.18).
 Figure 4.19 shows how ABO blood types are based on antigens on RBC surfaces.
 Figure 4.20 shows how these Punnett squares follow the genotypes that could result when a
person with type A blood has children with type B blood.

Figure 4.18 ABO Blood Group

Figure 4.19 ABO Blood types illustrating codominance

Figure 4.20 Punnett squares if type A has children with type B

 PHENOMENON EFFECT ON PHENOTYPE EXAMPLE
Lethal alleles A phenotypic class does not survive to Spontaneous abortion
reproduce.
Multiple alleles Many variants or degrees of a phenotype Cystic fibrosis
occur.
Incomplete dominance A heterozygote’s phenotype is intermediate Familial hypercholesterolemia
between those of two homozygotes.
Codominance A heterozygote’s phenotype is distinct from ABO blood types
and not intermediate between those of the two
homozygotes.
Epistasis One gene masks or otherwise affects another’s Bombay phenotype
phenotype.
Penetrance Some individuals with a particular genotype do Polydactyly
not have the associated phenotype.
Expressivity A genotype is associated with a phenotype of Polydactyly
varying intensity.
Pleiotropy The phenotype includes many symptoms, with Porphyria variegate
different subsets in different individuals.
Phenocopy An environmentally caused condition has Infection
symptoms and a recurrence pattern similar to
those of a known inherited trait.
Genetic heterogeneity Different genotypes are associated with the Hearing impairment
same phenotype.

Figure 4.21 Summary of factors that alter single-gene phenotypic ratios

MITOCHONDRIAL GENES AND GENE LINKAGES

 MITOCHONDRIAL GENES
 The basis of the Law of Segregation, that both parents contribute genes equally to offspring, DOES
NOT APPLY for mitochondrial genes.
 mtDNA-encoded genes act in the mitochondrion.
 Mitochondrial genes are maternally inherited. Only females transmit mitochondrial genes while males
can inherit such a trait but cannot pass it on.
 Mitochondrial genes do not cross over, and they mutate more frequently than nuclear DNA.
 The 37 mitochondrial genes encode tRNA, rRNA, or proteins involved in protein synthesis or energy
reactions.
 Many mitochondrial disorders are heteroplasmic, with mitochondria in a single cell harboring different
alleles.

GENE LINKAGES

 Genes on the same chromosome are linked and unlike genes that independently assort, produce many
individuals with parental genotypes and a few with recombinant genotypes.
 Linkage maps depict linked genes. Researchers can examine a group of known linked DNA sequences
(a haplotype) to follow the inheritance of certain chromosomes.
 Knowing whether linked alleles are in cis or trans, and using crossover frequencies from pooled data,
one can predict the probabilities that certain genotypes will appear in progeny.
 Genetic linkage maps assign distances to linked genes based on crossover frequencies. Today many
genetic markers spanning the genome are used to compare large groups of individuals, one of which
has a particular phenotype. These genome-wide association studies are used in discovering genetic
variants that contribute to multifactorial conditions.
ADDITIONAL NOTES

GENE AS A UNIT OF INHERITANCE

GENE
 Are the basic units of heredity.
 Are composed of biochemical instructions on how to manufacture certain proteins.
 Is the long molecule deoxyribonucleic acid (DNA) of which that transmits information, in its sequence
of four types of building blocks.

After several years of research Mendel drew the following conclusion in modern genetic terminology:
 The characteristics of the plants were governed by distinct factors (or units) of inheritance, which were
later termed genes. An individual plant possessed two copies of a gene that controlled the
development of each trait, one derived from each parent. The two copies could either be identical to
one another or non-identical. Alternate forms of a gene are called alleles. For each of the seven traits
studied, one of the two alleles was dominant over the other. When both were present together in the
same plant, the existence of the recessive allele was masked by the dominant one.
 Each reproductive cell (or gamete) produced by a plant contained only one copy of a gene for each
trait. A particular gamete could have either the recessive or the dominant allele for a given trait, BUT
NOT BOTH. Each plant arose by union of male and a female gamete. Consequently, one of the alleles
that governed each trait in a plant was inherited from the female parent, and the other allele was
inherited from the male parent.
 Even though the pair of alleles that governed throughout the life of an individual plant, they became
separated (or segregated) from one another during the formation of gametes. This formed the basis of
Mendel’s First Law: Law of Segregation
 The segregation of the pair of alleles for one trait had no effect on the segregation of alleles for
another trait. A particular gamete could receive a paternal gene governing seed color and a maternal
gene governing seed shape. This formed the basis of Mendel’s Second Law: Law of Independent
Assortment.

GREGOR MENDEL

 The Father of Genetics. Like many great scientists, the work of Gregor Mendel was not appreciated
until after his death.
 In the years following the publication of his work, Mendel continued his interest in science: he
attempted cross- breeding experiments with hawkweed and bees and became a meticulous record
keeper of meteorological and astronomical data.
 Mender got himself confounded about a question- Why did certain traits disappear in one generation,
yet reappear in the next? He had a clear experimental plan in mind: to cross pea plants having
inheritable characteristics and to determine the pattern by which these characteristics were transmitted
 to the offspring. He derived two hypotheses to explain how inherited traits are transmitted like the
reappearance of traits in the third generation. Mendel chose to focus on 7 clearly definable traits, each
of which occurred in two alternately identifiable forms.

Figure 4.3. Traits Mendel studied. Gregor Mendel studied the transmission of seven traits in the pea plant.
Each trait has two easily distinguished expression or phenotypes.

PEA- PLANT EXPERIMENT

PUNNETT SQUARE

 A Punnett Square illustrates how alleles combine in

offspring.
 The different types of gametes are listed along two sides of
the square.
 Each compartment displays the genotype that results when
gametes correspond to that compartment join
  Figure on the right shows that breeding a tall pea plant with homozygous
recessive short plants reveals whether the tall plant is true- breeding (TT)
or non-true breeding (Tt).
 Punnett squares usually indicate only the alleles.

MENDELIAN LAWS: LAW OF SEGREGATION

 Hybrids from experiments were observed to hide one expression of a trait

which reappears upon self- crossing. This is due to genes being distributed
by gametes where cells physically link generations. Paired sets of genes
separate as gametes form then combine anew when gametes join at
fertilization. Mendel reasoned that each gene was packaged in a separate gamete and this was later
called as the Law of Segregation.

 The LAW OF SEGREGATION reflects the actions of chromosomes and genes during meiosis.
 An individual with two identical alleles for a gene is homozygous for that gene.
 An individual with two different alleles is heterozygous or what Mendel called “non-true-breeding” or
hybrid.
 When considering a gene with two alleles, the dominant one is shown as a capital letter and the
recessive one is small letters.
 The genotype described the organism’s alleles.
 The phenotype describes the outward expression of an allele combination
 A wild type phenotype is the most common expression of particular allele combination in a population.
 A mutant phenotype is a variant of a gene’s expression that arises when the gene undergoes a change
or mutation.

SINGLE- GENE INHERITANCE

 Remember: for any given gene, a person inherits one allele from his or her mother and one allele from
his or her father.
 The simplest form of inheritance is known as single- gene inheritance, or the Mendelian pattern of
inheritance (Monofactorial Inheritance). This type of inheritance occurs when a single gene codes for a
trait. Common single- gene traits include eye color, widow’s peak, hairline, freckles, dimples, and type
of earlobe.
MODES OF INHERITANCE

 Modes of Inheritance are rules that explain the common patterns of single- gene transmission which
makes it possible to calculate the probability that a particular couple will have a child who inherits a
particular condition.
 The way that a trait is passed depends on whether the gene that determines it is on an autosome or
on sex chromosomes, and whether the particular allele is recessive or dominant.
 Autosomal Dominant Inheritance
 Autosomal Recessive Inheritance.

AUTOSOMAL DOMINANT INHERITANCE

 Can appear in either sex because an autosome carries the gene.

 If a child has the trait, at least one parent also has it.
 Autosomal dominant traits do not skip generations
 If no offspring inherit the trait the offspring can pass on only the recessive form of the gene.
 Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and
polycystic kidney disease.

CRITERIA FOR AN AUTOSOMAL DOMINANT TRAIT:

 Males & females can be affected. Male-to male transmission can occur.
 Males & females transmit the trait with equal frequency.
 Successive generations are affected.
 Transmission stops after a generation in which no one is affected.
 Examples of autosomal; recessive disorders include cystic fibrosis, sickle cell anemia, and Tay- Sachs
disease.

AUTOSOMAL RECESSIVE INHERITANCE

 Shows that a trait can appear in either sex.

 Affected individuals have a homozygous recessive genotype, whereas in heterozygotes (carriers) the
wild type allele masks expression of the mutant allele.
 If a couple has a child with an autosomal recessive illness, each of their next children faces the same
25% risk of inheriting the condition.

CRITERIA FOR AN AUTOSOMAL RECESSIVE INHERITANCE

 Males and females can be affected.

 Affected male and females can transmit the gene, unless it causes death before reproductive age.
 The trait can skip generations.
 Parents of an affected individual are heterozygous or have the trait.

MENDELIAN LAWS: LAW OF INDEPENDENT ASSORTMENT

 The LAW OF INDEPENDENT ASSORTMENT states

that for two genes on different chromosomes, the
inheritance of one does not influence the chance of
inheriting the other. Thus, they “independently assort”
because they are packaged into gametes at random.
The independent assortment of genes carried on
different chromosomes results from the random
alignment of chromosome pairs during metaphase of
meiosis 1.
  When he crossed true-breeding plants that had round, yellow seeds to true- breeding plants that had
wrinkled, green seeds, all the progeny had round yellow seeds.
 These offspring were double heterozygotes or dihybrids of genotype RrYy. From their appearance, it
was deduced that round is dominant to wrinkled, and yellow to green.

SO WHAT’S THE DIFFERENCE BETWEEN A MONOHYBRID CROSS

FROM A DIHYBRID CROSS?

 A monohybrid cross is a cross between first- generation offspring

of parents who differ in one trait while a dihybrid cross is a cross
between first- generation offspring of parents who differ in two
traits.

PEDIGREE CHART ANALYSIS

 Pedigree charts display family relationships and depict which

relatives have specific phenotypes and genotypes. To further understand and analyze a pedigree chart
better.
 Pedigree charts display easily the modes of inheritance.
INCONCLUSIVE PEDIGREE CHART

 Pedigree charts could also be inconclusive. See Figure 4.17 where this
pedigree chart could account for an autosomal dominant trait or an
autosomal recessive trait.

GENE EXPRESSION APPEARS TO ALTER MENDELIAN RATIOS

LETHAL ALLELE COMBINATIONS

 A genotype (allele combination) that causes death is, by definition, lethal.

 Death from genetic disease can occur at any stage of life.
 In n evolutionary sense, a lethal genotype has a more specific meaning- it
causes death before the individual can reproduce, which prevents passage of
genes to the next generation.
 Examples of human diseases caused by recessive lethal alleles include cystic
fibrosis, sickle-cell anemia, and achondroplasia. Achondroplasia is an
autosomal dominant bone disorder that causes dwarfism.

MULTIPLE ALLELE COMBINATION

A gene can exist in more than two allelic forms in a population

because it can mutate in many ways wherein the sequence of
hundreds of DNA bases that make up a gene can be altered in many ways.

COMPLETE DOMINANCE

 Where one allele is expressed, while the other isn’t.

 Brown eyes, for example, is a trait that exhibits complete dominance: someone with a copy of the gene
for brown eyes will always have brown eyes. Blue eyes, on the other hand, are recessive: if a copy of
the gene for brown eyes is present, the blue-eyed gene will be completely masked.
INCOMPLETE DOMINANCE

 Is where the heterozygous phenotype is intermediate between

that of either homozygote.
 It is more frequent for morphologic traits than a molecular trait.
 Skin color is an example of incomplete dominance. It is
controlled by multiple genes and therefore shows a polygenic
inheritance.

CODOMINANCE

 Is where different alleles are both expressed in a heterozygote. It is more

frequent for molecular traits than for morphologic traits.
 Means that neither allele can mask the expression of the other allele.
 An example in humans would be the ABO blood group, where alleles A and
alleles B are both expressed. So if an individual inherits allele A from their
mother and allele B from their father, they have blood type AB.
 ABO Blood Group are determined by polysaccharides present on the surface of
RBC’s. Both A and B polysaccharides are formed from a precursor substance
that is modified by the enzyme product of either the IA or the IB allele. The
gene products are transferase enzymes the attach either of two types of sugar
unit to the precursor.
 Figure 4.20 shows how these Punnett squares follow the genotypes that could
result when a person with type A blood has children with type B blood.

A homozygous Type “A” woman marries homozygous Type “AB” man. What are the likely blood types of their
children?

**MAS DOMINANT ANG A

A A
A AA AA
B AB AB
2:2 Offspring’s could have either Blood Type “A” or Blood Type “AB”

Two heterozygous Type “B” couple just had a pair of newborn twins. The first one has blood type “O” the
other has Blood type “B”. Is this possible? BLOOF TYPE O IS

B O
B BB BO
O BO OO
A family of four has Blood Type “A” save for the youngest daughter who has Blood Type “O” Is this possible?

A O
A AA AO
O AO OO

MITOCHONDRIAL GENES & GENE LINKAGES

 The basis of the Law of Segregation, that both parents contribute genes equally to offspring, DOES
NOT APPLY for mitochondrial genes, mtDNA- encoded genes act in the mitochondrion.
 The mitochondrial genome contains 37 genes that encode 13 proteins, 22tRNAs, and 2rRNAs. The 13
mitochondrial gene- encoded proteins all instruct cells to produce protein subunits of the enzyme
complexes of the oxidative phosphorylation system, which enables mitochondria to act as the
powerhouses of our cells.
 Mitochondrial genes are maternally inherited. Only females transmit mitochondrial genes while males
can inherit such a trait but cannot pass it on.
 Mitochondrial genes do not cross over, and they mutate more frequently than nuclear DNA.

PHENOTYPE

 The set of observable characteristics of an individual resulting from the interaction of its genotype with
the environment

GENOTYPE

 The genetic constitution of an individual organism

DOMINANT

 Expressed in person who has only one copy of that gene

RECESSIVE

 Expressed only when two copies of the gene are present.