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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
3. _KLINEFELTER’S SYNDROME XXY
4. CRI DU CHAT DELETION OF PART OF #5
5. NORMAL MALE - XY
6. NORMAL FEMALE XX
7. PATAU’S SYNDROME MALE – TRISOMY 13
8. EDWARD’S SYNDROME MALE – TRISOMY 18
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 nonhomologous 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.