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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.

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