changes made t ieee
Causes; nB*S Made to an organism's genetic material
Fe eet
to | Fadiation, viruses, and, medicine (such as
uring pregnancy)
‘PES OF MUTATIONS tes at rap locos cused by
1. Point mutations
‘large categor deletion. tt is a hereditary disease that affects the
that desabea change inane Ree | lungs and digestive system. The body produces
ae DNA tobe diterenttrom the ‘Nek and stk mua that can cg the ngs and
strut the
comma HSeuene The atmerrary pancreas
in the nitrogenous bases,
iuceie acids, See tn seeatanie” seca ca swapped for different ones
TYPES of Point Mutations
ee
2. Genetic Disorders ~ caused by an abnormality in
the genetic makeup of an individual and is caused
‘bya chromosomal abnormality. An individual has a
a : ware
One example of a disorder due to insertion is beta- Senden pate eeaatechet
thalassemia, itis the isrder that affects the iano
Production of hemoglobin, The insertion causes the
malformation of the red blood cell leading to the
decrease in hemoglobin count.
Deletion — extra base pair is deleted from a
sequence
in the picture below, there isa deletion in the
second codon. The normal sequence is ATG, the
error occurred when A was deleted causing the rest
Of the pairings to move forward to fil in the missing,
base pair.There are 46 chromosomes, or there are 23 palts
Of chromosomes. The 22 pairs ae called
autosomes and the last pair determines our
gender,
‘The Following are examples of geneti disorders:
(Cridu-chat syndrome ~ also known as the Sp
minus syndrome. This occurs when a piece of
chromosome number Sis missing. t affects the
facial features: eyes are far fro
Im each other, low-
‘set ears, small jaw,
‘and rounded face
Down syndrome ~ also known as trisomy 21. As
Seen on the sample karyotype above, there are
nly 2 pieces of every chromosome number. in
trisomy, instead of a pair,
chromosome added. A person with down
Syndrome has an intellectual disability, a
‘characteristic facial feature, and poor muscle
tone
Edwards syndrome ~also known as trisomy 18,
Aniingividual with Edwards syndrome has low
birth weight and abnormalities in imbs, This
‘Occurs in one in five thousand infants.
\linefetter syndrome affects males. There is an
xtra copy of an X chromosome. Therefore, male
individuals with Kinefelter smndrome has an XXY
chromosome instead of the normal XY. This
affects the male sexual character
istics preventing
their gonads to function normally,
‘Turmer syndrome — affects females, There isa
‘missing chromosome in the last pair. The normal
female chromosomal pairis XX, but in Turner
syndrome, there is only one X chromosome.
There Is an effect on the development of the
female sex characteristics.
‘Answer the following questions below:
1-3, What are the different causes of genetic
mutation?
4-8 (5 points)In your own wards, how would you
differentiate point mutation from genetic
disorders?
9-11 What are the different types of point
mutations?
12. Describe the error brought about by
INSERTION (in your own words)
13. Describe the error brought about by
DELETION (in your own words)
14. Describe the error brought about by
SUBSTITUTION (in your own words)
15. Whats a karyotype and describe the normal
human karyotype.