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.  Chromosomes fail to separate properly during meiosis

______2.  Condition in which an organism has extra sets of chromosomes

______3.  Mutations that affect the reproductive cells

______4.  Mutations that affect the body cells

______5.  Which (#3 or #4 from above) are not inheritable

______6.  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.