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General Biology 2

Second Quarter

Module 2.3 – Heredity and Variations: Non-Mendelian Genetics

Learning  Describe modifications to Mendel’s classic ratios (gene


Competency interaction)
Learning Outcomes  Describe the non-Mendelian genetics.
 Explain sex linkage characteristics and recombination.
 Develop and appreciate similarities and differences among
organisms.

Target Values  Appreciate individual characteristics


 Respect all aspects of individuality as depicted by nature.

NON-MENDELIAN INHERITANCE

 Mendelian inheritance patterns involve genes that directly influence the outcome of an
organism’s traits and obey Mendel’s laws.
 Most genes in eukaryotic species follow a Mendelian pattern of inheritance. However, there
are many that do not.

The color of human skin can range from very light to very dark with every possible gradation in
between. As you might expect, the skin color trait has a more complex genetic basis than just
one gene with two alleles, which is the type of simple trait that Mendel studied in pea plants.
Like skin color, many other human traits have more complicated modes of inheritance than
Mendelian traits. Such modes of inheritance are called non-Mendelian inheritance, and they
include inheritance of multiple allele traits, traits with codominance or incomplete dominance,
and polygenic traits, among others. 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.
These laws describe the inheritance of traits linked to single genes on chromosomes in the
nucleus.

1. Co-dominance
 Co-dominance is believed to be a violation of the Law of Dominance.
 When the alleles for a particular trait are co-dominant, they are both expressed
equally rather than a dominant allele taking complete control over a recessive
allele.
 This means that when an organism has two different alleles (i.e., is a heterozygote),
it will express both at the same time.
 Both traits are dominant, and show up in the phenotype together. Co means
“together”

Example: Black Cow and White Cow = Spotted Cow


(CBCB) (CWCW) (CBCW)

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Sample Problem: In cows, the allele for red hair is H R and the allele for white hair is HW. If a
heterozygous red hair cow (roan hair) is cross with white hair cow, what would be the
phenotype and the phenotypic ratio of their offspring? Note: Follow the steps in solving
genetic problem as discussed in Mendelian Genetics

Genes of the Parents: HR – Red Hair; HW – White Hair


Parents Genotype: HRHW x HRHW
HR HW Phenotype: 1 Red (HRHR)
HRHR HRHW 2 Roan (HRHW)
HR
1 white (HWHW)
HW HRHW HWHW
PR: 1:2:1
2. Incomplete Dominance
 Sometimes in a heterozygote dominant allele does not completely mask the
phenotypic expression of the recessive allele and there occurs an intermediate
phenotype in the heterozygote. This is called incomplete dominance.
 With co-dominant alleles, both traits are expressed at the same time. With
incomplete dominance, the same thing occur but the traits are blended together
rather than occurring in discrete patches.
 It thus refers to the condition in heterozygotes where the phenotype is intermediate
between the two homozygotes.

Example: In some plants the cross of red and white produces pink-flowered progeny
(Four-o’clock plants (Mirabilis jalapa) or snapdragons (Antirrhinum majus).

Sample Problem. In human, hair texture is due to incomplete dominant trait. Straight
hair (H) is incompletely dominant to curly hair (h). When crossed they produced a
heterozygous individual (Hh) with wavy hair. When a husband is curly hair and the
wife is straight hair, a) what would be the phenotype of their offspring? b) how
about if a wavy hair son marries to a straight hair woman, what would be the
possibility of their offspring to have wavy hair and curly hair?
A.
Allele of Parents: H – Straight Hair ; h – Curly Hair
Genotype of Parents – HH x hh
H H
Hh Hh Phenotype: All the offspring will
h
have curly hair.
h Hh Hh

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B.
Allele of Parents: H – Straight Hair ; h - Curly Hair
Genotype of Parents: Hh x HH
H h

H HH Hh

H HH Hh
There is 50% possibility that the children will have wavy hair but no children will have
curly hair.

3. Polygenetic Inheritance
 Some traits are controlled by many genes such as the height, IQ, skin color, eye
color etc.
 Polygenic inheritance occurs when one characteristic is controlled by two or
more genes.
 Often the genes are large in quantity but small in effect.

Example: Skin Color in Man. Davenport (1913) in Jamaica found that two pairs of
genes, A-a and B-b cause the difference in skin pigmentation between Negro and
Caucasian people. These genes were found to affect the character in additive fashion.

Thus, a true Negro has four dominant genes, AABB, and a Caucasian has four recessive
genes aabb. The F1 offspring of mating of aabb with AABB, are all AaBb and have an
intermediate skin color termed mulatto. A mating of two such mulattoes produces a
wide variety of skin color in the offspring, ranging from skins as dark as the original Negro
parent to fair complexion and as white as the original white parent.

4. Multiple Alleles
 Mendel studied just two alleles of his pea genes, but real populations often have
multiple alleles of a given gene.

Example: ABO blood type in humans. There are three common alleles for the gene that
controls this characteristic. The alleles IA and IB are dominant over i. A person who is
homozygous recessive ii has type O blood. Homozygous dominant IAIA or heterozygous
dominant IAi have type A blood, and homozygous dominant IBIB or heterozygous
dominant IBi have type B blood. IAIB people have type AB blood, because the A and B
alleles are co-dominant. Type A and type B parents can have a type AB child. Type A

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and type B parents can also have a child with Type O blood, if they are both
heterozygous (IBi, IAi).
 Type A blood: IAIA, IAi
 Type B blood: IB IB, IBi
 Type AB blood: IAIB
 Type O blood: ii

Sample Problem: Draw a Punnett square showing all the possible blood types for the
offspring produced by a type “O” mother and an a Type “AB” father.

Allele of Parents: I and i – type O ; IA and IB – type AB


Genotype of Parents: ii x IAIB

IA IB

i IAi IBi

i IAi IBi

The blood type that would be produced by the offspring are type A (IAi )and type
B (IBi)

Pretend that your father and mother are both heterozygous for the blood type A
allele. What are your possible blood type?

Allele of Parents : IA and i


Genotype of Parents: I Ai x IAi

IA i

IA IAIA IAi

i IAi ii

Phenotype: Type A and Type O

Do you know your ABO blood type?


In an emergency, knowing this valuable piece of information could possibly save your life. If you
ever need a blood transfusion, it is vital that you receive blood that matches your own blood
type? Why? If the blood transfused into your body contains an antigen that your own blood does
not contain, antibodies in your blood plasma (the liquid part of your blood) will recognize
the antigen as foreign to your body and cause a reaction called agglutination. In this reaction,
the transfused red blood cells will clump together, as shown in the image below. The
agglutination reaction is serious and potentially fatal.

Two samples of the same blood are shown here. The sample on the left is mixed with anti-B antibodies; the sample on
the right is mixed with anti-A antibodies. Agglutination by the anti-A antibodies on the right shows that the sample is
type A blood (www.bioliretexts.org)

Knowing the antigens and antibodies present in each of the ABO blood types will help you
understand which type(s) of blood you can safely receive if you ever need a transfusion. This
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information is shown in the table below for all of the ABO blood types. For example, if you
have blood type A, this means that your red blood cells have the A antigen and that your blood
plasma contains anti-B antibodies. If you were to receive a transfusion of type B or type AB blood,
both of which have the B antigen, your anti-B antibodies would attack the transfused red blood
cells, causing agglutination. However, it is possible for you to receive a transfusion of type O
because it has no B antigen. This means that type O is a universal donor> but type O cannot
receive a transfusion from type A and B because type O has antibodies A and B which would
attack the transfused red blood cells due to antigens present on them.

Antigens and antibodies in ABO blood types (Public Domain; InvictaHOG via Wikimedia.org)

5. Gene Linkage
 Each chromosome contains more than one gene.
 If the genes are situated in the same chromosome and are fairly close to each
other, they tend to be inherited together.
 This type of coexistence of two or more genes in the same chromosome is known
as linkage.

Example: some combinations of wing shape and body color are inherited together. Fruit
flies that have brown bodies are more likely to have normal wings, while fruit flies that have
black bodies are more likely to have vestigial wings.

SEX-LINKED INHERITANCE
 Sex makes no difference in Mendel’s crosses. But the Mendel’s laws are not applicable on
those genes which are exclusively located either in X or Y chromosome.
 Sex-Linked Inheritance is the inheritance of a trait (phenotype) that is determined by a gene
located on one of the sex chromosomes.
 The genes which occur exclusively on the X chromosome or on the analogous Z
chromosome (in birds and other species) are called X- or Z -linked genes while the genes
which exclusively occur in Y chromosome are called holandric genes.
 The inheritance of such X- or Z-linked and holandric genes is called sex-linked inheritance.

Men normally have an X and a Y combination of sex chromosomes, while women have two
X's. Since only men inherit Y chromosomes, they are the only ones to inherit Y-linked traits. Men
and women can get the X-linked ones since both inherit X chromosomes.

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1. X-Linked Recessive Trait
 The X-linked recessive genes show criss-cross pattern of inheritance.
 In criss-cross inheritance, an X-linked recessive gene is transmitted from P1 male
parent (father) to F2 male progeny (grandsons) through its F1 heterozygous females
(daughters), which are called carriers) and different F1 and F2 results (ratios) in the
reciprocal crosses.
 The X-linked recessive phenotype is usually found more frequently in the male than
in the female. This is because an affected female can result only when both mother
and father bear the X-linked recessive allele (e.g., XA Xa × Xa Y), whereas an
affected male can result when only the mother carries the gene.
 Usually none of the offspring of an affected male will be affected, but all his
daughters will carry the gene in masked heterozygous condition, so one half of their
sons (i.e., grandsons of F1 father) will be affected.
 None of the sons of an affected male will inherit the X-linked recessive gene, so not
only will they be free of the defective phenotype; but they will not pass the gene
along to their offspring.

There are about 1,098 human X-linked genes. Most of them code for something other than
female anatomical traits. Many of the non-sex determining X-linked genes are responsible for
abnormal conditions such as hemophilia, Duchenne muscular dystrophy, fragile-X syndrome ,
some high blood pressure, congenital night blindness, G6PD deficiency, and the most common
human genetic disorder, red-green color blindness. X-linked genes are also responsible for a
common form of baldness referred to as "male pattern baldness".

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For example: Color Blindness. The mother is a carrier of color blindness (which means her father
maybe is color blind or her mother is a carrier too) marry a man who has normal vision. There is a
possibility that 50% of his son would be color blind but none of their daughters will be affected but
they are carriers of the disease and will pass it to her male children also.

Sample Problem: In humans, the genes for normal blood clotting is dominant to the gene for
hemophilia. Persons with hemophilia do not have the correct blood proteins for normal blood
clotting, which means whenever they are injured their blood won’t stop bleeding unless medical
interventions will be done. This gene is on the X chromosome. Supposed that a woman is
heterozygous for hemophilia (has normal blood clotting but carrier of the disease) marries a man
without hemophilia (normal). Determine genotype and phenotype and the following
probabilities.

a. Having a carrier (heterozygous female) child - 25%


b. Having hemophilic son - 25%
c. Having a normal female - 25%
d. Having normal male - 25%

Allele of Parents: XH – Normal Xh – hemophilic (with hemophilia)


Genotype of Parents: XHXh x XHY

XH Xh

XH XHXH XHXh

Y XHY XhY

Genotype: ¼ or 25% XHXH Phenotype: ¼ normal female


¼ or 25% XHXh ¼ carrier female
¼ or 25% XHY ¼ normal male
¼ or 25% XhY ¼ hemophilic male

2. Y-Linked Genes
 Genes in the non-homologous region of the Y chromosome pass directly from male
to male.
 In man, the Y-linked or holandric genes are transmitted directly from father to son.

Examples
 Genes for ichthyosis hystrix gravis hypertrichosis (excessive development of hairs on
pinna of ear)
 Genes for H-Y antigen, histocompatibility antigen, spermatogenesis, height (stature)
and slower maturation of individual.

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Pedigree Analysis

All of the conclusions regarding gene action (dominant/recessive; codominant) we have


discussed so far have been obtained from analyzing the results of controlled crosses. In some
situations, we do not have the opportunity to perform controlled crosses. Rather we need to
analysis an existing population. This is always the case when studying human genetics. Scientists
have devised another approach, called pedigree analysis, to study the inheritance of genes in
humans. Pedigree analysis is also useful when studying any population when progeny data from
several generations is limited. Pedigree analysis is also useful when studying species with a long
generation time. Pedigrees also are used to analyze the pattern of inheritance of a particular
trait throughout a family. Pedigrees show the presence or absence of a trait as it relates to the
relationship among parents, offspring, and siblings.

Reading a Pedigree
A series of symbols are used to represent different aspects of a pedigree. Pedigrees represent
family members and relationships using standardized symbols. By analyzing a pedigree, we can
determine genotypes, identify phenotypes, and predict how a trait will be passed on in the future.
The information from a pedigree makes it possible to determine how certain alleles are inherited:
whether they are dominant, recessive, autosomal, or sex-linked. Below are the principal symbols
used when drawing a pedigree.

Deceased
[o] Adopted

To start reading a pedigree:


1. Determine whether the trait is dominant or recessive. If the trait is dominant, one of the
parents must have the trait. Dominant traits will not skip a generation which means the
phenotype generally appears every generation. If the trait is recessive, neither parent is
required to have the trait since they can be heterozygous.
2. Determine if the chart shows an autosomal or sex-linked (usually X-linked) trait. For
example, in X-linked recessive traits, males are much more commonly affected than
females. In autosomal traits, both males and females are equally likely to be affected
(usually in equal proportions).

Example 1: Autosomal Dominant Trait

The diagram on the next page (please refer) shows the inheritance of freckles in a family. The
allele for freckles (F) is dominant to the allele for no freckles (f).

At the top of the pedigree is a grandmother (individual I-2) who has freckles. Two of her three
children have the trait (individuals II-3 and II-5) and three of her grandchildren have the trait
(individuals III-3, III-4, and III-5).
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What is the genotype of individual I-2 (#2 in generation I which is the mother)?
 Since freckles are dominant to no freckles, an affected individual such as I-2 must at least
have one F allele.
 The trait shows up in all generations and affects both males and females equally. This
suggests that it is an autosomal dominant trait.
 Unaffected individuals must have two recessive alleles (ff) in order to not have freckles. If
we notice, I-2 has some children who do not have freckles. In order to produce children
with a genotype of ff, I-2 must be able to donate an f allele.
 Therefore we can say that her genotype is Ff.

Example 2: X-linked Recessive Trait

The diagram shows the inheritance of colorblindness in a family. Colorblindness is a recessive and
X-linked trait (Xb). The allele for normal vision is dominant and is represented by XB.

In generation I, neither parent has the trait, but one of their children (II-3) is colorblind. Because
there are unaffected parents that have affected offspring, it can be assumed that the trait is
recessive. In addition, the trait appears to affect males more than females (in this case, exclusively
males are affected), suggesting that the trait may be X-linked.

What is the genotype of individual III-2?


 We can determine the genotype of III-2 by looking at her children. Since she is an
unaffected female, she must have at least one normal vision allele (XB). Her two
genotype options are then XBXB or XBXb
 However, her son (IV-1) is colorblind, meaning that he has a genotype of XbY. Because
males always get their X chromosome from their mothers (and their Y from their fathers),
his colorblind allele must come from III-2.
 We can then determine that III-2's genotype is XBXb, so she can pass on to her son.

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Let’s try this…

King Albert

1 3 4 5 6

1 2

2 4 8
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Hemophilia is a rare, sex-linked recessive disorder that results in the inability to produce a
clotting factor. This disorder was present in many members of European royalty. Use H = normal
clotting allele and h = recessive hemophilia allele.

 Which head of this royal family, Albert or Victoria, likely passed the recessive hemophilia
allele to their son, Leopold?
Answer: Hemophilia is an x-linked recessive disorder because it shows that only males are
affected. Therefore, Victoria is the carrier of the disease because she has able to pass to
one of her sons since male will require only one Xh chromosome to develop the disease
while female will require two Xh (XhXh) to develop it.
 Who are the carriers of hemophilia in the second to fourth generations? (Indicate the
number)
Answer: Persons #II-3, #II-8, #III-4, #III-2, #III-5
 Alfonso (generation IV) has hemophilia. If Alfonso has a child (with a healthy, unrelated
female who has NO family history of hemophilia), what is the probability that the child is
born with the disorder hemophilia?
Answer:
Alfonso Genotype: XhY
Wife’s Genotype : XHXH
Xh Y
XH
XHXh XHY

XH XHXh XHY

Genotype: 2 XHXh Phenotype: 2 Female Carrier


2 XHY 2 Normal Male

Therefore, there is no possibility that their children will have hemophilia. But their
daughters (carrier female) have the chance to pass the disorders to their future
sons.

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