HEREDITY-2
Genetic traits in humans can be tracked through family pedigrees
A pedigree is a family tree that describes the interrelationships of parents and children across
generations
shows the inheritance of a trait in a family through multiple generations,
Inheritance patterns of particular traits can be traced and described using pedigrees to demonstrate
dominant or recessive inheritance, and can also be used to deduce genotypes of family members.
1
Degrees of Dominance
Complete dominance ( ) occurs when phenotypes of the heterozygote and dominant
homozygote are identical
In incomplete dominance, ( ) the phenotype of F1 hybrids is somewhere between the
phenotypes of the two parental varieties
In codominance, ( ) two dominant alleles affect the phenotype in separate, distinguishable
ways
Multiple Alleles
Pleiotropy
Incomplete dominance
Mendel’s pea crosses always looked like one of the two parental varieties, a situation
called complete dominance.
For some characters, the appearance of F1 hybrids falls between the phenotypes of the
two parental varieties. This is called incomplete dominant.
Many genes have alleles that are not dominant or recessive to one another. Instead, the
heterozygotes Show an intermediate phenotype.
Red snapdragon is crossed with a true-breeding White one, all the F1 flowers are pink.
2
Codominance
MN blood group system in humans
The MN blood group system is under the control of an autosomal chromosome, with two alleles
designated LM and LN.
The blood-type is due to a glycoprotein present on the surface of red blood cells, which behaves as a
native antigen.
An antigen is a molecule capable of inducing an immune response (to produce an antibody) in the host
organism.
Phenotypic expression at this locus is co-dominant because an individual may exhibit either one or
both antigenic substances.
There is codominance in the feather color of chicken
A-B-AB Blood Group System in Humans
There is codominance in A, B and AB blood types in human also.
Blood type A and B is codominant so there ia a blood type AB.
3
Multiple Alleles
In one species, if the number of alleles for the same character is more than two is called the multi-
allelic. (multiple alleles)
A diploid organisms carries only two of these alleles in its genotype. One of these alleles is inherited
from the mother and the other from the father.
There are multiple alleles in fur color of rabbits.
Different types of genotypes can be determined with the following formula in multiple alleles.
Coat color in rabbits is determined by one gene with four alleles. There is a dominance hierarchy
among these alleles:
C > cch > ch > c
Any rabbit with the C allele (paired with any of the four) is dark gray, and a rabbit with cc is albino.
The intermediate colors result from the different allelic combinations shown in Figure.
4
Example 1
There are 4 different alleles are present for fur color of a mammal. These are A, B, C and D. Degree
of dominance is A>B>C>D.
a) Determine the number of different types of phenotypes?
b) Determine the number of different types of genotypes?
c) Determine the different types of genotypes that are not homozygous?
d) Write all different types of genotypes.
5
Multiple allele in Human Blood
Although each individual carries, at most, two different alleles for a particular gene, in cases of
multiple alleles, more than two possible alleles exist in a population.
For example, the four phenotypes of the ABO blood group in humans are determined by three alleles
for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA,
IB, and i.
The enzyme encoded by the IA allele adds the A carbohydrate, whereas the enzyme encoded by the IB
allele adds the B carbohydrate; the enzyme encoded by the i allele adds neither
6
Human ABO blood group phenotypes involve three alleles for a single gene.
The four human blood groups, A, B, AB, and O, result from combinations of these three alleles.
The A and B alleles are both expressed in heterozygous individuals, making both alleles codominant.
Agglutination reactions are given below. If the antigen and antibody present in the same medium
agglutination occurs. Therefore, determine the types of blood according to agglutinations
7
Rh Factor
Scientists sometimes study Rhesusmonkeys to learn more about the human anatomy because there are
certain similarities between the two species. While studying Rhesus monkeys, a certain blood protein
was discovered. This protein is also present in the blood of some people. Other people, however, do not
have the protein.
The presence of the protein, or lack of it, is referred to as the Rh (for Rhesus) factor.
If your blood does contain the protein, your blood is said to be Rh positive (Rh+). If your blood does
not contain the protein, your blood is said to be Rh negative (Rh-).
Blood incompatibility
8
Example 2
ARh + mother and BRh + father had three daughters with 0Rh-, ABRh + and ARh + blood groups.
a) Find the genotypes of the mother and father.
b) Show the pedigree of this family.
c) What is the probability of the fourth child of this family to be born in the B0Rr genotype son?
d) Which of the children may have blood incompatibility in his/ her future marriage?
Example 3:
Mother genotype is 00Rr and father genotype is ABRr according to blood type. How many different
types of genotypes and phenotypes can be seen of their children?
9
Example 4
Phenotypes are shown on the pedigree below. What is the probability that their third child will be a
daughter with AO genotype.
Pleiotropy
Some alleles have multiple phenotypic effects a property called pleiotropy.
For example, pleiotropic alleles are responsible for the multiple symptoms of certain hereditary diseases,
such as cystic fibrosis and sickle-cell disease
Pleiotropy occurs when one gene influences multiple characters.
Sickle-cell disease is a human example of pleiotropy.
This disease affects the type of hemoglobin produced and the shape of red blood cells and causes
anemia and organ damage.
Sickle-cell and nonsickle alleles are codominant.
Carriers of sickle-cell disease have increased resistance to malaria.
The Behavior of Recessive Alleles
Recessively inherited disorders show up only in individuals homozygous for the allele
Carriers are heterozygous individuals who carry the recessive allele but are phenotypically normal
(i.e., pigmented)
Albinism is a recessive condition
characterized by a lack of pigmentation in
skin and hair
If a recessive allele that causes a disease is
rare, then the chance of two carriers meeting
and mating is low
Consanguineous matings (i.e.,
matings between close relatives) (akraba
evliliği) increase the chance of mating
between two carriers of the same rare allele
10
Dominantly Inherited Disorders
Some human disorders are caused by dominant alleles
Dominant alleles that cause a lethal disease are rare and arise by mutation
Achondroplasia is a form of dwarfism caused by a rare dominant allele
11
12