Name Ralph T.

Balolot (BSSW 2-A)

MENDELIAN INHERITANCE IN HUMANS
Characteristics that are encoded in DNA are called genetic traits. Different types of human traits
are inherited in different ways. Some human traits have simple inheritance patterns like the traits
that Gregor Mendel studied in pea plants. Other human traits have more complex inheritance
patterns.
Mendelian inheritance refers to the inheritance of traits controlled by a single gene with two
alleles, one of which may be dominant to the other. Not many human traits are controlled by a
single gene with two alleles, but they are a good starting point for understanding human heredity.
How Mendelian traits are inherited depends on whether the traits are controlled by genes on
autosomes or the X chromosome.
Autosomal Traits
Autosomal traits are controlled by genes on one of the 22 human autosomes. Consider earlobe
attachment. A single autosomal gene with two alleles determines whether you have attached
earlobes or free-hanging earlobes. The allele for free-hanging earlobes (F) is dominant to the
allele for attached earlobes (f). Other single-gene autosomal traits include widow’s peak and
hitchhiker’s thumb. The dominant and recessive forms of these traits are shown in Figure below.
Which form of these traits do you have? What are your possible genotypes for the traits?
The chart in Figure below is called a pedigree. It shows how the earlobe trait was passed from
generation to generation within a family. Pedigrees are useful tools for studying inheritance
patterns.
You can watch a video explaining how pedigrees are used and what they reveal at this
link:http://www.youtube.com/watch?v=HbIHjsn5cHo.
Having free-hanging earlobes is an autosomal dominant trait. This figure shows the trait and how
it was inherited in a family over three generations. Shading indicates people who have the
recessive form of the trait. Look at (or feel) your own earlobes. Which form of the trait do you
have? Can you tell which genotype you have?
Other single-gene autosomal traits include widow's peak and hitchhiker's thumb. The dominant
and recessive forms of these traits are shown in Figure below. Which form of these traits do you
have? What are your possible genotypes for the traits?

Widow's peak and hitchhiker's thumb are dominant traits controlled by a single autosomal gene.
Sex-Linked Traits
Traits controlled by genes on the sex chromosomes are called sex-linked traits, or X-linked
traits in the case of the X chromosome. Single-gene X-linked traits have a different pattern of
inheritance than single-gene autosomal traits. Do you know why? It’s because males have just
one X chromosome. In addition, they always inherit their X chromosome from their mother, and
they pass it on to all their daughters but none of their sons. This is illustrated in Figurebelow.
Inheritance of Sex Chromosomes. Mothers pass only X chromosomes to their children. Fathers
always pass their X chromosome to their daughters and their Y chromosome to their sons. Can
you explain why fathers always determine the sex of the offspring?
Because males have just one X chromosome, they have only one allele for any X-linked trait.
Therefore, a recessive X-linked allele is always expressed in males. Because females have two X
chromosomes, they have two alleles for any X-linked trait. Therefore, they must inherit two
copies of the recessive allele to express the recessive trait. This explains why X-linked recessive
traits are less common in females than males. An example of a recessive X-linked trait is red-
green color blindness. People with this trait cannot distinguish between the colors red and
green. More than one recessive gene on the X chromosome codes for this trait, which is fairly
common in males but relatively rare in females (Figure below). At the following link, you can
watch an animation about another X-linked recessive trait called hemophilia
A:http://www.dnalc.org/view/16315-Animation-13-Mendelian-laws-apply-to-human-
beings-.html.
Pedigree for Color Blindness. Color blindness is an X-linked recessive trait. Mothers pass the
recessive allele for the trait to their sons, who pass it to their daughters.
Summary
 A minority of human traits are controlled by single genes with two alleles.
 They have different inheritance patterns depending on whether they are controlled by
autosomal or X-linked genes.
Source: 3.11: Mendelian Inheritance in Humans - Biology LibreTexts
NON-MENDELIAN INHERITANCE
Non-mendelian genetics includes the pattern of inheritance that does not follow Mendel’s laws.
It explains the inheritance of traits linked to a single gene on chromosomes. When researchers
began investigating and exploring more and more test crosses, they found that there are several
characteristics that do not match up with Mendel’s laws. The genotype and phenotype ratio of
the cross changes due to different inheritance patterns. Let us have a detailed look at the different
types of non-mendelian inheritance patterns. They include when the character of the trait
depends on more than one allele. 
Incomplete Dominance
Non-Mendelian genetics deals with various kinds of dominance. In fragmented strength, the
characteristics mix together, creating a middle-of-the-road aggregate. Assuming that two
blossoms are crossed together, a half-breed will be delivered in the middle between both parents.
For e.g., in the snapdragon plant, in the event that a homozygous white blossom is crossed with a
homozygous red bloom, a pink bloom is gotten. When the heterozygote for a particular character
has a mix of both homozygous phenotypes, this is known as incomplete dominance. If a red
homozygous flower and a white homozygous sprout both have lacking dominance on alleles, the
hybrid will look like neither of the parents—in this situation, a pink rose will result. The alleles
are normally marked with a superscript – “AR” for the red allele and “AW” for the white allele –
since neither is dominant in the hybrid.
Codominance
At the point when the two alleles present, are
all the while communicated, it is known as
codominance. For e.g., in certain assortments
of chicken, the alleles for dark chickens are
codominant with alleles for white quills. If a
black chicken is crossed with a white
chicken, a chicken with both white and dark
chickens is gotten. The heterozygote doesn’t
have a phenotype from the two homozygotes
in codominant qualities. Rather, the
heterozygote shows both homozygous and
heterozygous characteristics. The AB blood type classification is a great example of
codominance. Blood type-A, B, and O is one more illustration of a character having various
alleles. The A and B alleles have generally dominated the O allele. When A and B are available
in a similar cell, however, both genes are expressed.
Types of Codominance
Multiple alleles: Some populaces have numerous alleles of a given quality. For, e.g., the quality
of coat variety in bunnies has four normal alleles. When a character is controlled by three or
more alleles for a gene, it is called multiple alleles, and the phenomenon is called multiple
allelism. Such multiple alleles are responsible for producing various types of phenotypes and
genotypes.
Pleiotropy: When one quality influences various attributes, it is known as pleiotropy. Pleiotropy
is a non-Mendelian pattern of inheritance where one gene is the reason for various, apparently
irrelevant features. Consider a chicken gene that makes the feathers to be impressively frizzier
than they ought to be. This gene boosts the chicken’s appetite, heart pulse, and even
postponement of sexual maturity, which is odd in nature. These things are associated with the
frizzy gene, which codes for a similar protein in chickens.
For e.g., Marfan Syndrome brings about a few side effects like extremely tall levels, heart issues,
separation of focal points, and so on. These side effects are not related straightforwardly,
however, are brought about by the change of a solitary quality.
Lethal alleles: When lethal alleles are implicated, a few strange phenotypic ratios arise. When
lethal alleles are inherited, they are deadly. A couple of qualities have alleles that influence the
endurance of living beings. For, e.g., deadly yellow happens because of a change in mice that
turns their jacket yellow. When deadly alleles cause embryonic death, researchers seldom see the
children. As a result, the offspring’s phenotypic ratio may be dramatically influenced—
statistically suggesting a deadly gene is certainly implicated. Mice with homozygous alleles kick
the bucket during early-stage advancement. Deadly alleles can be predominant or latent and can
be communicated in homozygous or heterozygous circumstances.
Polygenic Inheritance
There are a couple of qualities that are constrained by numerous qualities. For e.g., our level is
constrained by in excess of 400 qualities. Skin pigmentation is the consequence of a few
qualities. Polygenic characteristics are qualities that are regulated by various genes. Since there
are countless distinct genes at play, polygenic characteristics are not inherited in the traditional
Mendelian proportions. Human skin tone is a brilliant illustration of a polygenic characteristic.
Likewise, to height, weight, and eye color, skin tone is controlled by various genes inside the
human genome and happens on a sliding range between two extremes.
Extranuclear Inheritance
The transmission of qualities happens outside the nucleus. Mitochondrial DNA is given from the
mother to the progeny. It normally happens in cytoplasmic organelles, for example, mitochondria
and chloroplast. However, sperm cells contain mitochondria, which supply energy to the cell,
these mitochondria are not sent to the egg cell during fertilization. The term for this is non-
nuclear inheritance.
The sperm cell simply gives the new zygote its nucleus and disposes of the rest of the cell. As a
result, a zygote’s only mitochondria are those that were previously present in the egg cell. These
mitochondria will increase themselves by binary fission when the zygote partitions and will be
randomly associated with each new cell.
As a result, in contrast to standard Mendelian genetics, mitochondrial and chloroplast DNA
legacy has no fatherly part. You get pieces of DNA from each individual in your family who
came before you through regular Mendelian inheritance. Mitochondria, then again, exclusively
move down the maternal line. This leads to geneticists might utilize your mitochondrial DNA
and the changes it contains to track line as far as possible back to the beginning of humankind. It
is a type of non-Mendelian legacy found via Carl Correns. Mitochondrial illnesses are
additionally given to posterity. This doesn’t adhere to Mendel’s regulations.
 PATTERNS OF INHERITENCE
A note about the word “expression”
The word “expression” can mean different things in different contexts. In molecular biology,
“expression” means “transcribed and translated,” or the process of making a protein from the
genetic instructions in DNA.
In discussions of phenotypes, sometimes people use the word “expressed” to mean “visible” in
the phenotype.
These very different definitions create a lot of confusion about the difference between gene
expression and phenotypic appearance, because it can make it sounds like a recessive allele is
recessive because it must not be transcribed or translated. This is not the case. Often both the
dominant and the recessive alleles are expressed (transcribed and translated), but the behavior of
the protein encoded by the dominant allele “masks” or “hides” the behavior of the protein
encoded by the recessive allele.
Recognizing this distinction is extremely helpful for understanding the behavior of both
Mendelian (single gene, dominant/recessive inheritance) and “non-Mendelian” traits (anything
other than a single gene, dominant/recessive inheritance).
Beyond dominant/recessive traits
Mendel identified the rules of particulate inheritance (inheritance based on genes) using pea
plants which have many single-gene traits with a dominant/recessive inheritance pattern. This is
the simplest inheritance pattern possible, and most traits are NOT controlled this way. Other
(more common) inheritance patterns include:
Incomplete dominance: where heterozygotes have an intermediate phenotype in-between the two
homozygous phenotypes. An example is petal color in four o’clock flowers, where homozygotes
are either white or red, and heterozygotes are pink. Each R allele contributes one ‘unit’ of petal
color, while each r allele contributes no ‘units’ of petal color. So two R alleles result in a red, one
R allele results in pink, and no R alleles result in white.
Co-dominance: where heterozygotes display each phenotype associated with each allele. An
example is the AB blood type in humans, where the A allele results in one specific type of sugar
in a red blood cell, and B results in a different type of sugar in a red blood cell. Two A alleles
result in only A-type sugars, two B alleles result in only B-type sugars, and the heterozygote has
both A- and B-type sugars on the red blood cell. (Type O results in no sugar; we’ll discuss this
more in class.) Though they seem similar at first glance, incomplete dominance, and co-
dominance are different from each other and are based on the molecular phenomenon underlying
the trait.
Quantitative traits: where the trait has a continuous phenotype controlled by additive alleles at
multiple genes. This means that the trait is not controlled by just one gene with several alleles,
but by MULTIPLE genes (polygenic inheritance), each of which can have multiple alleles. An
example is human height: we have differences in height down to fractions of an inch, rather than
being either 4 ft, 5 ft, or 6ft tall. Each height allele at each gene controlling height contributes a
‘unit’ of height which is additive. Quantitative traits contrast with discrete traits where the trait
has only a few possible phenotypes which fall into discrete classes (i.e., peas are either round or
wrinkly, and there are no in-between phenotypes).
Multiple allelism: where a gene has more than two alleles circulating in the population. An
example is human blood type (described above) where the single gene controlling blood type can
be have an A, B, or O allele.
Gene-by-gene interactions: where the phenotype associated with one allele depends on the
allele(s) present at another gene. This is different from a quantitative trait where alleles at
multiple genes are additive. The gene-by-gene inheritance pattern can also be called epistasis.
The take home-message on gene-by-gene interactions is that this phenomenon alters the expected
phenotypic ratios of a Mendelian dihybrid cross (9:3:3:1) to a different pattern.
Pleiotropy is the phenomenon where a single gene influences multiple, seemingly unrelated
traits. For example, in the human disorder phenylketonuria (PKU), a single mutation in a single
gene can cause intellectual disability, seizures, reduced skin pigmentation, light hair color,
“musty” smelling urine, and a predisposition to eczema.
Gene by environment interactions: where the environment plays a role in determining phenotype
controlled by alleles. An example is the human height (which is also an example of a quantitative
trait) where childhood nutrition plays a role in an adult height. We have gotten taller as a species
in the last 200 years (mostly) not because of changes in our alleles but due to access to better
nutrition in much of the world.
While these types of inheritance ‘violate’ Mendel’s rules for the inheritance of single-gene
discrete traits, they are all still controlled by the behavior of chromosomes during meiosis. In
addition, the single-gene inheritance pattern Mendel discovered is pretty rare compared to all
these other inheritance patterns described above: most traits are controlled by one or more of the
inheritance patterns described above. In class, we’ll predict genotypes, phenotypes, and
phenotypic ratios for incomplete dominance and co-dominance inheritance patterns.
Source: Patterns of inheritance | Biological Principles (gatech.edu)