Genetic Variation

 Objectives 

The reader will be able to:

o Explain what variation is  

o Distinguish between continuous and discontinuous variation 

o Distinguish between heritable and non-heritable variation. 

o Explain the causes of variation and state their source. 

o Explain the consequences of variation.  

o Explain the term Recombinant DNA technology and state their applications.


VARIATION

This is referring to the differences in characteristics among individuals of the same species. This is due to inherited genes from parents or acquired through the environment. There is variation in skin color, hair color, hair curliness, eye color and sex.


Types of Variation

There are two main types of variation: Continuous variation and Discontinuous variation. 


Discontinuous Variation

Discontinuous variation is when there exists a clear-cut difference between the characters with no intermediate forms. Human blood group is an example of discontinuous variation. There are only 4 types of blood group (A, B, AB or O). There are no other possibilities and there are no values in between. So, this is discontinuous variation. Other examples are Rhesus factors, sex (male or female), red-green color blindness, hemophilia, sickle cell anemia.

 

variation

Continuous Variation   

Continuous variation is the type of variation within a species with intermediate forms between two extremes. Human height is an example of continuous variation. Height ranges from that of the shortest person in the world to that of the tallest person. Any height is possible between these values. Other examples include weight, skin color, intelligence, age, body size, pattern of fingerprint.

variation


Difference between Continuous Variation and Discontinuous Variation

Continuous variation

Discontinuous variation

Intermediate forms present

No intermediate forms

Controlled by the gene (polygene); polygenic

Controlled by major genes (alternate or multiple alleles); not polygenic 

Controlled by the genes and environment

Entirely genetic (not affected by environmental conditions)

Caused by co-dominance

Caused by complete dominance

Follow normal distribution curve. i.e frequency of characteristics evenly distributed.

Not evenly distributed


Inherited and Non-Heritable Variation

Some variation within a species is inherited, and some variation is due to the environment.

v  Inheritable variations are variations that are inherited. They are mainly cause by genetic factors. Examples of inherited variations: eye color, lobed or lobeless ears, blood group, sickle cell, albinism, rolling of tongue, ability to taste PTC paper, gender (male or female) etc.

v  Non-heritable variations are acquired through the environmental influences and are therefore not inherited. Examples goiter, river blindness, scars, knowledge and language.

 

Causes or Sources of Variation

There are two causes of variation. Environmental factors and genetic factors.

Environmental causes of variation

o   These are external or non-inheritable factors that affect or influence life processes and cause difference among organism of the same species. Examples of external factors are climate, diet, accidents, light intensity, altitude, culture and lifestyle. For example, if you eat too much you will become heavier, and if you eat too little you will become lighter. A plant in the shade of a big tree will grow taller as it tries to reach more light.


Genetic causes of variation

§  Mutation                       

§  Epistasis

§  Co-dominance                 

§  Cross over

§  Polyploidy                   

§  Hybridization

§  Polygenic character

§  Segregation and recombination

§  Independent assortment 

§  Incomplete Dominance

§  Random fusion of gametes

 

§  Segregation is the separation of each pair of homologous chromosomes during meiosis in the formation of gametes and their subsequent recombination during fertilization. This introduces variation in the offspring. Crossing over also causes variation. 

 

§  Independent Assortment: this is the independent assortment of genes to produce gametes at meiosis where the genes segregate so that only one of a pair is found in any one gamete. The separation of parental chromosomes at meiosis and their recombination at fertilization introduces possibility of new combinations of genes.

 

§  Co-dominance: refer to inheritance patterns when both alleles in a heterozygous organism independently and equally expressed. OR a condition in which both members of a pair of alleles equally express in the phenotype. E.g. blood group AB, the A and B alleles have equal dominance and are both expressed in the phenotype.

§  Incomplete Dominance: it refers to the situation where the action of one allele does not completely musk the action of the other and neither allele has dominant control over the trait. E.g.  Sickle cell anemia where the carrier produces 70% normal RBC and 30% abnormal RBC.

§  Epistasis: it sometimes happens that the effects of one gene is suppressed by another; even though they occupy different loci and hence not alleles. This phenomenon is known as epistasis. The gene that prevents the expression of another is said to be epistatic and suppressed gene is known as hypostatic.

§  Polygenic character: if two or more genes are responsible for a single trait, the phenotypic trait is said to be governed by polygenic factors. For example, genes that control growth hormone have a large effect on body size. Likewise, genes that control sex steroids like testosterone have some effect on body size, especially during maturation phases of growth.

 

Mutation

The ultimate source of genetic variation in populations is via Mutation. It is spontaneous change in a gene or chromosome of an individual. Mutation may be spontaneous, that is it may occur naturally. It can also be induced by exposure to physical and chemical agents in the environment called mutagens. Example of mutagenic agents are X-rays, gamma rays, ultraviolet rays, cosmic rays and some chemicals such mustard gas, cigarette smoke and colchicine.

 

Types of mutations

v  Gene mutation: alteration of the sequence of nucleotide of the DNA molecule cause changes in individual genes. An example of gene mutation is point mutations which affect only one or a few nucleotides within a gene. Gene mutations in human may result in albinism, color blindness, hemophilia, cystic fibrosis, dwarfism etc.

v  Chromosome mutation: a change in the number of chromosomes or arrangement of genes in chromosomes. Chromosomal mutations can result from;

ü  Changes in the structure of a chromosome

o   Deletions - a chromosome segment is lost from a chromosome

o   Duplications - a chromosome segment is present more than once in a set of chromosomes.

o   Inversions - result when two breaks occur in a chromosome and the broken segment is rotated 180º and join up again.

o   Translocations – result from the exchange of segments from two non-homologous chromosomes (two chromosomes that carry different genes)


ü  Changes in the number of chromosomes

o   Centric fusion - two non-homologous chromosomes fuse into one.

o   Centric fission - one chromosome splits into two.

o   Aneuploidy - one or more chromosomes of a normal set are lacking or present in excess. E.g., trisomic - occurrence of chromosomes 3 times.

o   Polyploidy - the duplication of chromosome sets such that individuals have more than 2 of each chromosome. Diploidy is the normal state (2 of each chromosome, 2N), but some animals are triploid (3N) and tetraploid (4N).

 

Consequences of Variation

Variation in a given population may lead to

§  Natural selection

§  Artificial selection

 

Natural Selection

Genetic variation plays a vital role in natural selection. Some variations are favorable and others are not. Favorable variation gives some selective advantage over the unfavorable variations. Environmental changes cause individual with favorable variation to survive whilst the unfavorable ones die. Individual with superior characteristics produce more offspring and pass on their genetic variations to their offspring and dominate the population. These changes take place along period of time, and may result in the origin of new species, and the extinction of the organism.

 

Artificial Selection 

This involves the application of the knowledge of genetics; by farmers; by special methods; to produce offspring with desirable characteristics.

Examples of artificial selection are in maize production; new varieties include ‘Abelehi’, ‘Okomasa’ and ‘Dobido’. New breed in farm animals such as cattle, pigs, sheep and goat have been developed.

 

Methods use in artificial selection

¨      Inbreeding

¨      Outbreeding

¨      Genetic engineering / Recombinant DNA technology

 

Ø  Inbreeding: this involves mating of closely related individuals of the same species in order to preserve certain desirable characteristics of stock.

 

Advantages of inbreeding

Ø  Maintain traits with the stock

Ø  No variation from parent stock

 

Disadvantages of inbreeding

·         Stock later looses reproductive vigor

·         Increase susceptibility to disease

·         Give rise to homozygous recessives

 

Ø  Outbreeding: this involves the mating of unrelated individuals of the same species in order to produce offspring; possessing the characteristics of both parents.

 

Advantages of outbreeding

o   Results in variation

o   High vigour

o   Produces healthier/more resistance 

 

Disadvantages

§  Desirable characteristics of the parents may be lost

§  New undesirable characteristics may be introduced

 

Genetic Engineering

Genetic engineering or Recombinant DNA technology is the manipulation of genes by scientists in order to produce organs or organisms with desire qualities.

 

How genetic engineering works

       The most important tools in process are restriction enzymes produced by species bacteria.

    These enzymes can recognize a particular sequence of DNA molecule (nucleotide bases) and cut the DNA at that location.

  The fragments of DNA generated can be joined using other enzymes called ligases to form a desirable DNA molecule

       Also, pieces of desired DNA inserted into a vector or carrier DNA.

       The vector in host cell generates multiple copies of the DNA.

       The process of engineering a DNA fragment into a vector is called cloning.

 

Application of genetic engineering

ü  Diagnosis and treatment of genetic diseases (gene therapy)

ü  Production of single cell proteins

ü  Production of interferon against viral diseases

ü  Mass production of human insulin

ü  Production of genetically modified foods (GM foods) such as golden rice, maize

ü  Generation of vaccines

ü  Improve growth rate

ü  Production of organs for human organ transplant

ü  Introduction of gene into sugar beet to deactivate the effects of herbicides

 

Application of variation (Importance of studying genetics)

Ø  Crime detection

Ø  Resolving problem of paternity

Ø  Giving compactible blood transfusion

Ø  Blood group determination

Ø  Classification of human race

Ø  Production of disease resistance crops

Ø  Fossil studies / anthropological studies

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