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GENETICS AND VARIATION

Genetics is a branch of science which deals with the study of inheritance and variation.
Heredity[inheritance]-similarity between offspring and parents
                                   -Similarity between siblings
                                   -Similarity between members of same species
Variation: differences from the parents, others offsprings, and other members of the same species and other species.
  Importance{application}of  Genetics
1 Plant and animal breeding, Hybridisation leads to high production, quick maturity and resistant to diseases. ie. Outbreeding. Artificial selection, to select and improve varieties of plants and animals ie. cross breeding
2. Blood transfusion :Is possible due to the knowledge of  blood groups and rhesus factor.
3. Genetics counselling : Genetic information is used to advise couples who have hereditary disorders about chances of children inheriting such disorders. Knowledge of  genetics helps to know sex determination as many males accuse their wives of  giving birth to only female children.

4.   Genetic engineering :Help in medicine, agriculture[GMO Genetically modified organisms],biological warfare and correction of genetic disorders. thus. surgeries and transplantation.
TERMS USED IN GENETICS
1. Heredity
Is a passing of features from parents to their young.
2. Variation
Possessing of characteristics which are different from these of the parents and other offsprings.
3. Genotype
Is the genetic constitution or make up of an organism
4. Phenotype
Is the outward or physical appearance of an organism
5. Dominant gene
Is a gene that prevents the expression of another gene.
6. Recessive gene
Is a gene that is masked by another gene.
7. Homozygous
Is a condition where by the two genes for a given trait are similar/ alike
8. Heterogeneous
Is a condition where the two genes for a trait are different.
9. Gene
Is a part of chromosome that carries the genetic material called DNA. Are also referred to as nucleotide chemical units of inheritance arranged along the chromosomes. They are called hereditary factors.
10. Trait
Are characteristics inherited by individual from their parents
11. Allele
Is an alternative form of a gene controlling the same characteristics but produce different effect
Example: T-tallness and t- shortness
12. MONOHYBRID CROSS
Are offspring produced by crossing two individual with different character
e.g. homozygous green podded plant (GG) and homozygous yellow podded plant (gg)           
13. FIRST FILLIAL GENERATION (F1)
Is the first generation of offsprings produced after crossing the parental genotypes.
14. SECOND FILLIAL GENERATION (F2)
Are offsprings produced by selfing the F1 generation
15. MONOHYBRID INHERITANCE
This is inheritance of one pair of contrasting (different characteristics e.g height where an individual is either tall or short)
16. DIHYHIBRID INHERITANCE
This is inheritance of two pairs of characteristics
Example: - pure tall pea plant with colours flowers and dwarf pea plant prossesing white flowers.
 17. EPISTASIS
It is the interaction between the two different known as allelic dominant genes                     
18. PEDIGREE
Is the historical or ancestral record of individuals shown in a chart ,table or diagram
 19. CHROMOSOMES
They are thread like structures found in the nucleus of the cell they are only visible when a cell nucleus is about to divide. Every nucleus of the cell of the same species has a constant number of chromosomes e.g.
Drosophila has 8 chromosomes, fruit fly pea plant has 40chromosomes sheep has 56 wheat has 14 chromosomes maize has 20 chromosomes.
Each member of the chromosome pair is known as homologous chromosome   
Types of chromosomes
There are two types of chromosomes in the human body
1. Autosomes
2. Heterosomes

1.Autosomes
These are also known as autosomal chromosomes. They carry all genetic information except that of sex. In humans autosomes are 44 in numbers forming 22pairs
2.Heterosomes
These are also known as sex chromosomes these chromosomes determine the sex of the organism in humans. One pair is responsible for the determination of sex

Diploid and haploid nuclei
Diploid nucleus has the chromosomes occurring as homologous pair e.g 23 pairs in the human this is as 2n diploid nuclei are found in the gametes
Haploid nuclei have only one set of unpaired chromosomes. In 23 chromosomes are there haploid nuclei are denoted as n diploid cells are formed after fertilization

 GENETIC MATERIALS
Genes are nucleotide chemical units of inheritance arranged along the chromosome and are capable of being replicated and mutated.
Each gene occupies a specific location on a chromosome this location is known as locus (plural is loci) each chromosome contains many genes.
Homologous chromosomes when paired together will have similar or different genes called alleles.
An alleles is an alternative form of gene controlling the same character out producing different effects. The gene can control color of the skin

 NUCLEIC ACID
Nucleic acids are polymeric macromolecules, or large biological molecules, essential for all known forms of life. Nucleic acids, which include DNA (deoxyribonucleic acid) and RNA (ribonucleic acid), are made from monomers known as nucleotides. Each nucleotide has three components: a 5-carbon sugar, a phosphate group, and a nitrogenous base. If the sugar is deoxyribose, the polymer is DNA. If the sugar is ribose, the polymer is RNA.

Together with proteins, nucleic acids are the most important biological macromolecules; each is found in abundance in all living things, where they function in encoding, transmitting and
expressing genetic information in other words, information is conveyed through the nucleic acid sequence, or the order of nucleotides within a DNA or RNA molecule. Strings of nucleotides strung together in a specific sequence are the mechanism for storing and transmitting hereditary, or genetic, information via protein synthesis.

Frederick Griffith - Bohat ALA\

1. DNA (deoxyribo nucleic acid)
- DNA has a double stranded shape or coil twisted like a ladder to form a double helix.
- DNA is the genetic material contained in the genes.
COMPONENTS OF DNA
The structure of part of a DNA. | Download Scientific Diagram

i. Deoxyribose sugar
ii. Phosphate group
iii. Organic base or Nitrogenous bases.
Nitrogenouse base
  •  Adenine (A) 
  •  Guanine (G)
  •  Uracil (U)
  •  Cytosine (C) 
  •  Thymine (T)
Functions of DNA
1. There are genetic material which are responsible for genetic characteristics
2. They assemble the amino acids to form a protein molecule
RNA (ribonucleic acid)
The RNA molecule is responsible for carrying genetic information from the DNA molecule to the ribosome which is the sight of the protein synthesis

TYPES OF RNA
Messenger RNA – carries information from the nucleus in from of base triplets.
Transfer RNA – It transfers the appropriate amino acids to the ribosome.
     
DIFFERENCE BETWEEN DNA & RNA

DNA       
1.Has deoxyribose sugar
2.Has double strands
3. Found in nucleus, some in the     Mitochondria of and chloroplast.  
4.Has organic bases, cytosine, guanine, adinine and thymine.        

RNA
 1.Has ribose sugar
2.Has single strand.
3.Found in nucleus and Cytoplasm
 4.Has organic bases, cytosine, Guanine, adenine, uracil



PRINCIPLES  OF INHERITANCE.  
Concept of inheritance.
Historical background of genetics
Father of genetics is Gregory Mendel
Mendel’s experiment
Mendel has selected garden pea plants [pisum sativa]
Reasons for selecting pisum sativa
1. The garden pea has many contrasting and easily recognized characteristics.
2. The hybrid obtained from the cross fertilization was fertile
3.The flowers of a garden pea are bi sexual and naturally self pollinated
4The garden pea plant matures relatively fast producing many off springs (seeds)
               
 MENDELIAN INHERITANCE.
1. LAW OF SEGREGATION
It states that “characteristics of an organism are controlled by internal factors (genes)occurring in a pair is carried in each gamete”

2. LAW OF INDEPENDENT ASSORTMENT
“ Each of the 2 alleles of one gene may combine randomly with either of the alleles of another gene independently”

PUNNET SQUARE
Is a chart showing the possible combination of factors among the offspring of a cross.

 It is used to show the formation of zygotes.
Female gametes are placed on the right while male gametes are placed on the left side.
               Male
                  Female
Example:
A cross between homozygous tall (TT) and homozygous dwarf (tt) plant can be illustrated as follows:
Let assume tall is male and dwarf is female 

Test cross
A cross used to cross an individual of unknown genotype with a homozygous recessive individual
Example:- A homozygous dominant individual (TT) will phenotypically appear the same.

BACK CROSS
In the crossing of individual of unknown genotype with the homozygous parent.
This is another form of test cross, but the difference is that in test cross, it is crossed with any individual while in back cross with a parent.g: if the individual is homozygous (bb)
     

DOMINANCE
Dominance is a state of one character /gene from one parent masking the corresponding character from another parent.
 Types of dominance
1.  Mendelian inheritance - Complete dominance
2. Non-Mendelian inheritance - Incomplete dominance
                                     - Co-dominance

1. COMPLETE DOMINANCE
 Is the dominance where by one gene masks the expression of the other gene.
 A dominant gene always masks a recessive gene when the two occur together.
 EXAMPLE:
1. A man homo zygote for brown iris marries a women who has blue iris. Show the results of F1. What colour would the iris of the cross between two members of F1?
 Solution: -
The gene for brown iris is completely dominant over gene for blue iris in woman.
Let gene for brown be B and  b for blue

GENETICS FORM FOUR ~ SCHOOL KWANZA

   Genotypes   -  All are Bb.
Phenotype    -  All have brown iris.                                       

Selfing F1
         
Genotypes     -    BB,Bb,bb
Phenotypes    -    3 Brown iris, 1 brown iris
Genotypic ration   -    1 : 2 : 1
Phenotypic ratio    -   3:1
                                             BB Bb bb

 2. A pure purple flowered pea plant was crossed with pure white pea plant. Offsprings for F1 were phenotypically all purple flowered plants when F1 was selved a mixture of purple pea flowered and white pea plant were produced at an approximate ratio of 3:1

Solution: -
Let gene for purple be A and white be a
GENETICS FORM FOUR ~ SCHOOL KWANZA



   
Genotypes : all are Aa
Phenotypes      : all have purple flower

Self F1
         
GENETICS FORM FOUR ~ SCHOOL KWANZA
Genotype                    -           AA, Aa, aa
Phenotypic ratio          -           3 : 1
Genotypic ratio           -           1 : 2 : 1

  2. INCOMPLETE DOMINANCE
In incomplete dominance there is no dominant or recessive gene, but both express themselves equally. It results in a heterozygous individual which does not resemble any of the heterozygous individual which  does not resemble any.
      Example: -
      1. A red flowered rose was crossed with white rose and all members of F1 were pink. When pink were selfed, a mixture of red, pink and white flowered plants were obtained.           
 Solution:-
      Let,     R – Red , G – White

    GENETICS FORM FOUR ~ SCHOOL KWANZA 

Genotypes       :           all are RG
Phenotype       :           all are pink
       
Genotypes        -      RR, RG, GG
Genotypic ratio   -     RR : RG : GG
                                                1   : 2   : 1
Phenotypic ratio    -   1 red : 2 pink : 1green

   3. CO-DOMINANCE
In co- dominance genes from both parents are dominant and are phenotypically expressed in the offspring.
Example: A red cow is mated with white bull. In F1 generation all of offsprings have equal patches of red and white fur. Therefore neither red or white gene is dominant over the other such cattle and called Roan.
When a roan cow is mated with roan bull, offsprings may be red, roan or white mated in the ratio of 1 : 2 : 1
Let;
           W - white bull
           R – Red cow
               
SBI3U
Genotypes – all are RW
Phenotype – all are Roan
             
Phenotypes ratio         -           1 Red : 2 Roan : 1 White
Genotypic ratio           -           RR : RW : WW
                                                1   :   2 : 1



 2 SIMPLE MENDELIAN TRAITS
The following are example of mendelion’s traits in man

1. ALBINISM 
Albinism is absence of pigmentation melanin in human skin/ animals or plants. This pigmentation is responsible for dark colour of the skin. As a result the person has white hair, pink eyes and light skin. In plant are characterized by lack of chlorophyll
It is controlled by a recessive gene. Human showing this disorder must be homozygous recessive. Heterozygous are normal but career.
     
Examples
1. What will be the result of normal man who married an albino woman?
Solution: -
Let gene for normal be A and Albino be a 
            
           GENETICS FORM FOUR ~ SCHOOL KWANZA

Phenotype   -    all are normal (Heterozygous)
 2. What would be the result of a cross between heterozygous parents?

         GENETICS FORM FOUR ~ SCHOOL KWANZA
Genotype – AA, Aa and aa
Phenotype – normal man, carrier and albino
 3. What would be the result of crossed between heterozygous parent with an albino parent.            Solution: -
             Gene : Aa        -           heterozygous parent                         aa        -           albino parent
 

Genotypes       -           Aa and aa
Phenotypes      -           half normal/ carries and albinos.
  4. What would be the result of crossed between heterozygous parent and homozygous nomal parent 
         Solution:-           Heterozygous Aa, homozygous AA 
             
Genotypes      -      AA, Aa                                                                                       
Phenotypes      -    all are normal (normal, carriers)

   2. ACHONDROPLASIA 
Achondoplasia is a disorder that is characterized by a shorted body, legs and hands. It is controlled by a dominant gene. Individuals with this disorders are Homozygous dominant or Heterozygous. Homozygous recessive are perfectly normal
Examples: -
1. What would be the result of a normal man who married an achondroplasia woman.

Solution: -
GENETICS FORM FOUR ~ SCHOOL KWANZA

Genes for normal man                         -           aa
Genes for achondroplasia women       -           AA
       
                 
Phenotypes      -      All are anchondroplasia
Genotypes      -       Aa
  2. What would be the result of a cross between an achondroplasia woman who is homozygous and achondroplasia man who is heterozygous?
Solution: -
       
            -           AA, Aa
Phenotypes      -           All achondroplasia
 3. What would be the result of a cross between heterozygous parents?
     
 Solution: -
     GENETICS FORM FOUR ~ SCHOOL KWANZA
           
Phenotypes                  -      3 Achondroplasia, 1 Normal
Genotypes                   -      AA, Aa, aa
Phenotypic ratio           -      3: 1
Genotypic ratio           -       1 : 2 : 1

  3. HAEMOPHILIA
Haemophilia is a hereditary trait characterized by delayed blood clotting. The result is prolonged bleeding even small injuries can lead to death. The haemophilic girl rarely live beyond puberty because of excessive menstrual bleeding. It causes high mortality rate.
It is controlled by recessive gene. Heterozygous are normal/carries but homozygous individuals are haemophilic.

Worked example: -
If a normal man married a haemophilic woman, the offsprings would be
Solution:
 - Let genotype for the man X H Y and woman X h Y h



GENETICS FORM FOUR ~ SCHOOL KWANZA
      i A haemophilic man will be X h y
ii Haemopholic female will be X h X h
iii H – not suffering from haemopholic while h – haemopholic

  4. COLOUR BLINDNESS 
Is the hereditary trait characterized by inability to detect certain colours of the spectrum. The common colour blindness is inability to distinguish between red from green.
   It is controlled by a recessive gene. Homozygous individual are colour blind while heterozygous are normal or carrier.

e.g . If a colour blindness man marries a nomal woman, the offspring will be as follows.
Let       B – normal
GENETICS FORM FOUR ~ SCHOOL KWANZA

            b - Colour blind

           
   5. SICKLE CELL DISEASE 
   This is a genetic disorder which makes the red blood cell acquire sickle shape under certain conditions. It may occur when the person is attacked by certain diseases. e.g.malaria. Also when oxygen tension in the atmosphere is very low. The sickled cells ability to carry oxygen is reduced
   It is controlled by a Recessive gene. Homozygous individuals are sickled cell while heterozygous individuals are normal/ carriers.
       
         
NOTE:
HbA – perfect normalGENETICS FORM FOUR ~ SCHOOL KWANZA


* If a carrier man marries a carrier woman the offspring will be - sickle cell anaemia     
         

  6. TONGUE ROLLING 
   This is a hereditary trail which is characterized by rolling a tongue into a U – shape. It is controlled by a dominant gene. Heterozygous and homozygous individuals are tongue rollers. Recessive are not tongue rollers.

TRAITS/ DISORDERS AND THEIR CONTROLLED GENE


HOW TO SOLVE GENETIC PROBLEMS BY USING PUNNET SQUARE           
1. In human beings normal skin pigment (melanin) is dominant over albinism. An albino male mates with a heterozygous female. If the female gives birth to 6 fraternal twins what will be the propaple genotypic and phenotypic ratio of the offspring?
Solution: -
i) Let letter    A   -   dominant gene
a   -    recessive gene (albinism)
             • Write the genotypes of the parents
                               (male) aa     x     Aa (female)
           ii) Use these genotype to complete the punnet square
           
          iii)Summarize the genotypic and phenotypic ratios
               Genotypic ration  -  Aa : aa = 1Aa: 1aa
               Phenotypic ration  -  ½ normal skin pigmented : albino = 1:1

2. In human beings normal skin pigment is dominant (A) over albinism (a) one couple with normal pigment mate and produce six fraternal twins. Out of 6, 4 have normal skin pigment and 2 are albino. What are the genotypes of the parents?
Solution: -
1. Write complete/partial parents genotypes and offspring
Parents     A
Four normal skin offspring     A

   Since normal skin is dominant, each of parent and 4 children must have at least one dominant gene

2. Since albino gene is recessive, 2 albino offspring are homozygous recessive (aa)
Two albino offsprings (aa)
A         - (Normal skin parent)x             A         - (normal skin parent)
A         - (4 normal offspring               aa         - (2 albino offspring)
   Since one gene for albino comes from each parent. Therefore each parent is heterozygous (Aa)

RHESUS FACTOR 
     About 85% of the human population has a gene located on the chromosomes number one that produces a function protein called ANTIGEN & (Rhesus factor)      Individuals with rhesus factor are rhesus positive (Rh+) and the remain 15% do not have this factor are rhesus negative (Rh-). Rh+ is dominant over Rh-. Rhesus antibody is normally absent in plasma of human blood. The Rh- people produce this antibody if Rh+ blood is transfused to them. These Rh+ antigens react with rhesus antibody causing agglutination. The present or absent of Rh factor gives the blood groups the + or – signs.
The table below shows the reactions of blood types with and without Rh factor.
               
                       
KEY:    (√)   -    No agglutination
            (x)    -    Agglutination

WORKED EXAMPLE
 A Rh+ man marries a woman who is Rh- and produces 10 children, what will be the phenotypes of the children
           
   SEX INHERITANCE 
Sex is a phenotypic character, it is dependent upon the genotype and environment. In sexually reproducing organisms, each individual is a product of a male and a female. Each individual receives an equal number of chromosome from male and female body. Fo example each individual receives 23 chromosomes from the mother and 23 from the father.
a In many species female chromosomes (sex) are XX and male are XY

 
The chromosomal mechanism of sex determination varies in different organisms
Example: -

Organisms

Gametes

Zygotes

Ova

Sperm

Female

Males
Drosophila, Human beings, Grasshoppers, Birds, Moths, Butterflies
XX
XX
XY
XY
XO
XX
2X
2X
XY
XY
XO
2X

SEX DETERMINATION AND INHERITANCE 
Sex of a child (man) is determined by sex chromosomes. Human being have 46 chromosomes (23 pairs of homologous chromosomes) in every body of these, 2 are sex chromosomes while 44 are referred to as autosomes. Autosomes determine physical characteristics such as height and body size. There are two types of sex chromosomes which are X and Y. These chromosomes determine the sex of a child.
- The male carries X and Y chromosomes which are different in shape and size and are said to be Heterogametic. The male genotype is XY.
- The female carries two X chromosomes which are similar in shape and size and are said to be Homogametic.
- A sperm (male gamete) has either an X or Y chromosomes while the ovum (female gamete) always contain the X chromosomes.
- Secondary sexual characteristics of females are controlled by genes on the X chromosomes.
- Male secondary sexual characteristics are controlled by genes on the Y chromosomes.
- The sex of a child is a matter of chance and depends on whether the sperm that fertilizes the ovum carries a Y or a X chromosomes. The chances of a baby being a girl or a   boy are 50:50.
- Maleness depends upon the presence of Y chromosomes  and Femaleness depends upon the absence of the Y chromosomes.
Sex determination in human. 
 The ratio of boys to girls is 1:1. This means that the probability of getting a boy or a girl is 50%.

SEX - LIMITED CHARACTERS.  
These are characters that are restricted to only one sex, either males or females.
Examples of sex-limited characters;-       
 i. Growth of facial hairs (Beard and Moustach) in males.       
This develops as a result of production of male hormonies. The gene for beards growth is also present in females but it is not expressed.         
 ii. Baldness in males.       
  iii. Breast development in females (lactation).       
 iv. Long hairs of male lions (Male: lion, Female: lioness)       
  v. Comb plumage of hens (Male: cork, Female: hen)         
vi. Hairy ears and nose is a common characteristics among males especially those of Asiatic descent. The fact that the characteristics are only present in the males, suggests that the gene responsible for the trait is located on the Y chromosomes.
SEX - INFLUENCED CHARACTERS.  
Are the characters that are expressed as dominant in one sex and recessive in the other. These are characters or traits that tend to be more conspicuous in one sex than the other. An example of sex - influenced characters is the presence or absence of horns in some breeds of sheep.   
  - The horned condition behaves as dominant in males but as recessive in females.       
   - The hornless state is dominant in the female sex but recessive in the male.
Note: The dominance difference of sex-influenced characters is mainly the result of hormonal
interaction with the genotype.

SEX PREFERENCE AND SEX SELECTION.
- Sex preference is favouring one sex (gender) and not the other.
- Sex selection means choosing the sex (gender) of the baby to have.
- Therefore, sex preference and selection result into people to like one type of sex more than other. This tendency is very common in African countries and some parts of Asia. Basically, both males and females are equal and depend on each other in many aspects of life. However, there has been a tendency of some people to prefer one type of sex over the other. Some people in families prefer having boys than girls while others prefer girls over boys.
- Those who prefer boys do so in a belief that boys will perpetuate the lineage and take care of the parents when females are living far away with their husbands.
- Those who prefer girls argue that, girls are kind and mercy, therefore they can take care of their parents at old age.

Socio - cultural factors that influence sex- preference and sex selection.
(i) Man power generation.     
 Some societies, especially pastoralists prefer boys over girls because boys help in animal grazing.
(ii) Generation and protection of wealth
  In some societies girls are more preferred than boys because they generate wealth upon getting married. A family will get a lot of cattle or money as a bride price.
(iii) Land ownership
    In some societies a woman can not own land, thus females prefer to have more sons than girls so that they can somehow benefit indirectly through their sons.

Conclusion;-
- Sex preference and selection have negative impact as it may result into in equality and discrimination. In many societies, sex preference and selection has led to boys being educated and given ample time to play and learn while girls stay at home and do house chores.
- Government and NGO'S have to take measures to rectify the situation. 

SEX LINKAGE
Sex linked genes carried on sex chromosomes but have nothing to do with sex. Traits whose expression is governed by sex linked traits are called sex linked traits .
One kind of colour blindness is an example of sex linked trait in human beings located on the X – chromosome. Example of other linked are haemophilia (bleeder’s diseases).

VARIATION 
The difference that exist between living organisms is called Variation. It is the possession of characteristics which are different from the parent and other offspring.
 Types of variation.

1. Continuous variation 
Is the variation which show intermediate form between any two extremes i.e there is no clear cut distinction between two extremes.
Example in group length ranges from shortest to tallest with several intermediaries continuous variation arises from interaction between genes and environment.

2. Discontinuous variation 
Is the variation which show clear cut distinction from one form to another form.
Example: -
In human population an individual is either a male or a female, ability to roll the tongue, albinism, blood group (A,AB,O) and rhesus factor.
Environment does not influence the characteristics that show discontinuous variation.
Example blood group can not be altered by environment.

Cause of variation 
1. Environment Factors 
     Food – lack of food of a certain diet leads to deficiency diseases such as Kwashiokor. Lack of enough food causes starvation. Also pathogens causes diseases in organism making the individual different from the normal ones.
 2. Genetic factors  
 (a)Meiosis – during meiosis there is segregation of different gametes.

  • This reduces the chance of pairs of chromosomes producing a wide variety of different gametes. This reduces the chance of individuals being the same. 


(b) Fertilization – during fertilization the nuclei of male and female gametes fuse.

  • This permits parental genes to be brought together in different combinations. 
  •  This may lead to desirable and undesirable qualities of parents be combined in the offspring. 


(c) Mutation-
 This is a sudden change in gene which can be inherited are caused by mutagens as x rays, cosmic rays, chemicals as mustard gas. The individual is called a mutant after undergoing mutation and appears different from the rest of the population.

    3.  Migration 
   As species are not normally informally distributed but occurs in small isolated population called demes. If members from the deme migrate and mate with members of another deme the offspring that results have characteristics that are different from those of both parents.

TYPES OF CHARACTERS 
1. Acquired characters 
These are traits an individual develops as a result of adaptation to the environment. Example: - Walking style. They are never inherited and are also know as no-heritable characteristics   
2. Inherited characters
Are traits passed on from parents to the offsprings through sexual reproduction.Are also called heritable characteristics.

Difference between acquired and heritable

ACQUIRED CHARACTERISTICS 
 1.Are due to the environment
2.Can not reappear in offspring.
3.Sometimes are changeable in life time (one way lose weight)
HERITABLE CHARACTERISTICS
1.Are due to genes
2.Re-appear in offsprings
3.Mainly unchangeable in life time (height

  GENETIC DISORDERS

MUTATION 
Mutation are changes in the genetic material in the gametes.
• It includes appearance of new characters that have never been before in that population
• Individuals who undergone mutation are called Mutants
•Mutation can be due to
1. Change in a gene itself
2. Change in arrangement of genes
 3. Loss of chromosomes (due to unbalanced meiosis)

• Mutation can be caused by agents known as Mutagens
i X-rays
iiCosmic rays
iiieavy metal (lead & mercury)

TYPES OF MUTATION 
1. Gene mutation
2. Chromosomal mutation

1. GENE MUTATION 
Gene mutation occur as a result of altering the chemical structure of genes
• There is a change in the sequence of nucleotides is the segments of DNA corresponding to one gene. This in turn alters the sequence of amino acids required in synthesis of a particular protein.
• The protein formed will be different from the normal ones and produce a profound effects on both the structure and development of an organism Example: sickle cell, dwarfism.

TYPES OF GENE MUTATION 
1. Substitution
 2. Insertion 3. Deletion 4. Inversion

i. SUBSTITUTION
   This is the replacement of one or more portions of a gene with a new one. E.g. A thymine (T) on ATA on the DNA molecule is replaced by cytocise (C) and result to ACA on the DNA
This is examplified in sickle cell anaemia only one nucleotide is changed. This kind of mutation involving the change of one nucleotide is called Point Mutation.
 ii. INSERTION
 This involves adding a new portion of a gene to an existing one. Example: If the base Guanine (G) is inserted between two Adenine result into AGA which does not code for any amino acid.
 iii. DELETION
   Deletion is the remove of a portion of a gene Example: -If base Guanine (G) is deleted in a base triplet CGC resulting into alteration of base sequence reducing the number of amino acids.
   iv. INVERSION
   A portion of DNA strand cuts and rotates through 180° the inversion results in alteration of the base sequence at this part.
Example: -A base triplet CTA can have its base thymine (T) and Adenine (A) cut and rotated. The result is CAT which is different from amino acid.
   
  2.. CHROMOSOMES MUTATION 
Chromosomes mutation involves changes in the structure of the chromosomes. During meiosis homologous chromosomes interwine at several points called chiasmata and create opportunity for various changes on the chromatids leading to mutation.
   
    TYPES OF CHROMOSOME MUTATION 
1. Deletion
 2. Duplication
 3. Inversion
 4. Trans location
5. Non-disjunction
6. Polypoidy

1. DELETION : This occurs when a portion of the chromosome breaks off and fails to reconnect to any of the chromatids, The result is the loss of genetic materials.
Deletion can be caused by error in chromosomal crossover during meiosis. These causes serious genetic deceases
   2. DUPLICATION         
  This occurs when a portion of the chromosome replicates itself adding extra length. The result is addition of a set of genes which is a duplication
 This may result to over emphasizing of a trait in an organism.
    3. INVERSION   
   This occurs when a middle piece of the chromosomes break and rotates at 180° and rejoins the chromatid. This has the effect of reversing the gene sequence.
         
    4. TRANS LOCATION 
   This occur when a portion of one chromosome breaks off and becomes attached to another chromatid of non-homologous pair. The result is transfer of genes chromosome to another.
This occurs when a middle piece of the chromosomes break and rotates at 180° and rejoins matid. This has the effect of reversing the gene sequence.
 
This occur when a portion of one chromosome breaks off and becomes attached to another homologous pair. The result is transfer of genes from one pair of homologous
This occurs when a middle piece of the chromosomes break and rotates at 180° and rejoins
This occur when a portion of one chromosome breaks off and becomes attached to another from one pair of homologous
 5. NON-DISJUNCTION
This kind of chromosomal mutation is caused by addition or loss of one or more chromosomes. This occurs during meiosis where homologous chromosomes fail to separate. This results in some gametes having more chromosomes that others.
Example of non – disjunction

(a) DOWN’S SYNDROME 
This is caused by presence of an extra chromosome number 21 individuals with this defect have a total of 47 chromosomes they have

  •  Resistance to infection
  •  Mentally retarded 
  •  Have thick tongue 
  •  Short body 

Also children of old parents (above 40 years woman and 55 man) have increased chance of Down’s syndrome
.
(b) KLINEFELTER’S SYNDROME 
   This is caused by failure of X chromosome to separate during the process of egg formation. An individual with this condition has two X chromosome and one Y chromosome (XXY). They are – outwardly male but may also have female characteristics.

  (c) TURNER’S SYNDROME 
 This is an individual with 45 (44 + x 0) chromosome in a cell instead of 46 (44 +xx).   Individual with this condition have one X and no Y i.e (XO) they individual is sterile and abnormally short female.

 6. POLYPLOIDY  
Occurs if the whole set of chromomes doubles after fertilization, where the spindle fail to be formed and the cell does not divide.It is rare in animals but common in plants
   
 7. SICKLE CELL ANAEMIA 
   Sickle cell anaemia is an example of gene mutation. The normal haemoglobin is entirely replaced by an abnormal haemoglobin known as haemoglobin S
   In sickle cell anaemia, the glutamic acid is replaced by another amino acid, the valine forming a haemoglobin s denoted by Hbs. Normal haemoglobin is denoted by HbA.
Haemoglobin S begins to crystallize when Oxygen concentration falls and causes red blood cell to assume the shape sickle. Half the number of red blood cell is sickle.
           
GENETIC COUNSELLING
Genetic information is used to advice couples who have hereditary disorders about chances of children inheriting the disorders. Genetic information could also be used in choosing marriage partners.

GENETIC ENGINEERING 
This is the alteration of the structure of DNA by man.
• Genetic engineering enables man to carry out research.

  •  Manufacture protein (insulin) 
  •  Improve animal and plant breeds 
  •  Correct genetic disorders 

 Genetic engineering is the technique of changing the genotypes of an organism. It involves inserting genes from one organism into the chromosomes of another organisms. Once inserted the foreign genes work as if they were in the organism they were taken from.

APPLICATION OF GENETICS  
            1. MEDICINE
Genetics engineering has enabled biologists to program and make useful substance. For example the gene in man that produces insulin was inserted into escherichia colia for producing pure insulin in large quantities.
• Human growth hormone has also been made by using bacteria which the proper gene has been added.
• Also blood clotting factors such as fibrinogen needed by haemophiliacs are produce.

  •  Vaccines from viruses are produced. 


2. Biological warfare 
Genetic engineering can help humans to produce biological weapons i.e. Anthrax and Vibrio cholera
 3. Agriculture 
• It is common for farmers to select and plant seeds from the healthiest and high yielding varies of plants with the aim of improving desirable traits as high fruits and crop production.
• Also genetics has enabled the beginning of selective breeding. Selective breeding is the crossing of animals or plants that have desirable traits to produce offspring that have a connection of the parents’ desirable characteristics
• Also the knowledge of genetics developed in breeding which involves crossing relatively individuals to maintain desirable traits. The various breeds of cattle, dogs, pigeons, chicken and maize, sugarcan and goats are a result of in breeding
 4. Genetic disorder 
1. Pregnant women can be informed about the deformation of the fetus 2. It can help in the modification of disordered genes
Dangers of genetic engineering

1. The outcome of genetic engineering can be weird out of our imagination
2. Production of new pathogens accidentally or deliberately