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Name Date Period Mutations and Disorders Worksheet Part I: Identifying Genetic Disorders – Analyzing Karyotypes State what disorder (if any) is present in the following karyotypes. 1. _______________________________ 2. _______________________________ 3. _______________________________ 4. _______________________________ 5. _______________________________ 6. _______________________________ 7. _______________________________ 8. _______________________________ Part II: Identifying Genetic Disorder Characteristics Use the following symbols to identify the genetic disease below, symbols may be used once, more than once or not at all. DS = Down’s Syndrome TS = Tay Sachs MD = Muscular Dystrophy SC = Sickle Cell Anemia TR = Turner’s Syndrome CC = Cri-du-chat PKU = Phenylketonuria HD = Huntington’s Disease KS = Klienfelter’s Syndrome AL = Albinism HE = Hemophilia SM = Supermale ED = Edward’s Syndrome PT = Patau’s Syndrome CF = Cystic Fibrosis ____1. sex linked recessive disorder ____ 21. lack protein for blood clotting ____ 2. no symptoms until age 30 or older ____ 22. absence of muscle protein ____ 3. defective hemoglobin molecule ____ 23. deletion of part of chromosome #5 ____ 4. lack melanin ____ 24. stocky build, low mental ability ____ 5. soda can warnings ____ 25. XO ____ 6. XYY ____ 7. autosomal dominant allele ____ 8. more common in people with African descent ____ 9. male, possible poor sexual development ____ 10. heterozygotes have advantage against malaria ____ 11. Trisomy 13 ____ 12. every child of affected parent has 50% chance of getting it ____ 13. lack an enzyme that breaks down lipids ____ 14. high incidence in Jewish people ____ 15. most prevalent recessive lethal allele in US ____ 16. Trisomy 18 ____ 17. XXY ____ 18. Trisomy 21 ____ 19. sex-linked recessive allele ____20. body creates abnormally thick, sticky mucous Part III: Vocabulary/Terms Write the vocab word or term that describes the statement or condition. ________________1. ________________2. ________________3. ________________4. ________________5. ________________6. Chromosomes fail to separate properly during meiosis Condition in which an organism has extra sets of chromosomes Mutations that affect the reproductive cells Mutations that affect the body cells Which (#3 or #4 from above) are not inheritable Mutations that involve segment of chromosomes, whole chromosomes or entire sets of chromosomes ________________7. Mutations that involve individual genes ________________8. Mutations that affect a single nucleotide ________________9. Type of mutation that can completely change the polypeptide product produced by a gene (due to an insertion or deletion of a single nucleotide) ________________10. Part of a chromosome breaks off and attaches to a non-homologous chromosome ________________11. Part of a chromosome becomes oriented in the reverse of its usual direction ________________12. Involves the loss of part of a chromosome ________________13. Segment of a chromosome is repeated ________________14. Disorder which is produces by a single dominant allele, no symptoms until individual is in their 30’s or 40’s ________________15. Caused by a point mutation (substitution) that changes one amino acid in the polypeptide ________________16. XO is called ________________17. XO is an example of a disorder caused by ________________18. XXY ________________19. Sex linked recessive disorder in which the blood does not clot properly ________________20. Sex linked recessive disorder in which the protein dystrophin is defective ________________21. Trait caused by a gene whose expression differs in males and females ________________22. Trisomy 21 ________________23. Sample of embryonic cells is removed directly from the membrane surrounding the embryo ________________24. Requires the removal of a small amount of amniotic fluid ________________25. Picture of chromosomes during metaphase of mitosis, can be used to detect certain genetic disorders Part IV: Chromosomal Mutations Label the following chromosomal mutations: ___________________ 1. ___________________ 2. ___________________ 3. ___________________ 4.
