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Mutations and Disorders Worksheet

Section 11.4 notes and PowerPoint

Part I: Identifying Genetic Disorders – Analyzing Karyotypes

State what disorder (if any) is present in the following karyotypes.

|1. DOWN’S SYNDROME MALE –TRISOMY 21 |2. TURNER’S SYNDROME FEMALE XO |

|[pic] |[pic] |

|3. _KLINEFELTER’S SYNDROME XXY |4. CRI DU CHAT DELETION OF PART OF #5 |

|[pic] |[pic][pic] |

|5. NORMAL MALE - XY |6. NORMAL FEMALE XX |

|[pic] |[pic] |

|7. PATAU’S SYNDROME MALE – TRISOMY 13 |8. EDWARD’S SYNDROME MALE – TRISOMY 18 |

|[pic] |[pic] |

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

MD,HE. sex linked recessive disorder HE 21. lack protein for blood clotting

HD 2. no symptoms until age 30 or older MD 22. absence of muscle protein

SC 3. defective hemoglobin molecule CC 23. deletion of part of chromosome #5

AL 4. lack melanin DS 24. stocky build, low mental ability

PKU 5. soda can warnings TR 25. XO

SM 6. XYY

HD 7. autosomal dominant allele *ALSO MARFAN AND ACHONDROPLASIA

SC 8. more common in people with African descent

KS 9. male, possible poor sexual development

SC10. heterozygotes have advantage against malaria

PT 11. Trisomy 13

HD 12. every child of affected parent has 50% chance of getting it

TS 13. lack an enzyme that breaks down lipids

TS 14. high incidence in Jewish people

CF 15. most prevalent recessive lethal allele in US

ED 16. Trisomy 18

KS 17. XXY

DS 18. Trisomy 21

MD,HE 19. sex-linked recessive allele

CF20. body creates abnormally thick, sticky mucous

Part III: Vocabulary/Terms

Write the vocab word or term that describes the statement or condition.

1. NONDISJUNCTION Chromosomes fail to separate properly during meiosis

2. POLYPLOIDY Condition in which an organism has extra sets of chromosomes

3. GERM CELLMutations that affect the reproductive cells

4. SOMATIC CELL Mutations that affect the body cells

5. 4 Which (#3 or #4 from above) are not inheritable

6. CHROMOSOMAL Mutations that involve segment of chromosomes, whole chromosomes or entire sets of chromosomes

7. GENE Mutations that involve individual genes

8. POINTMutations that affect a single nucleotide

9. FRAMESHIFTType of mutation that can completely change the polypeptide product produced by a gene (due to an insertion or deletion of a single nucleotide)

10. TRANSLOCATON Part of a chromosome breaks off and attaches to a non-homologous chromosome

11. INVERSION Part of a chromosome becomes oriented in the reverse of its usual direction

12. DELETION Involves the loss of part of a chromosome

13. DUPLICATION Segment of a chromosome is repeated

14. HUNTINGTON’S Disorder which is produces by a single dominant allele, no symptoms until individual is in their 30’s or 40’s

15. MISSENSE Caused by a point mutation (substitution) that changes one amino acid in the polypeptide EX SICKLE CELL

16. TURNER’S SYNDROME XO is called

17. NONDISJUNCTION XO is an example of a disorder caused by

18. KLINEFELTER’S SYNDROME XXY

19. HEMOPHILIA Sex linked recessive disorder in which the blood does not clot properly

20. MUSCUALR DYSTROPHY Sex linked recessive disorder in which the protein dystrophin is defective

21. SEX INFLUENCEDTrait caused by a gene whose expression differs in males and females

22. DOWN’S SYNDROME Trisomy 21

23. CVS Sample of embryonic cells is removed directly from the membrane surrounding the embryo

24. AMNIOCENTESIS Requires the removal of a small amount of amniotic fluid

25. KARYOTYPE Picture of chromosomes during metaphase of mitosis, can be used to detect certain genetic disorders

Part IV: Chromosomal Mutations

Label the following chromosomal mutations:

DELETION 1.

DUPLICATION 2.

INVERSION 3.

TRANSLOCATION 4.

The diagram above depicts meiosis. Unfortunately, something has gone wrong. Please explain what has happened incorrectly. Additionally, please explain what effects this could have if one of these cells was fertilized.

|Nondisjunction is when chromosomes fail to separate properly during meiosis (specifically anaphase). It can occur during meiosis I or |

|meiosis II. If it occurs during meiosis I, all of the cells will be affected and if one of the cells is fertilized it will result in a |

|zygote with too many or too few chromosomes. If nondisjunction occurs during meiosis II, half of the cells will be affected and half will |

|be normal. |

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