Name:
Name Date Period
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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