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Study Guide: Unit 6
Genetics: Mendelian Genetics and Exceptions to his Laws
Objectives: These are the major concepts you will be tested on at the conclusion of this unit.
1. Determine, given clues, the inheritance patterns of traits inherited via autosomal dominant or autosomal
recessive inheritance.
2. Briefly describe (know the mode of inheritance and basic symptoms) the following inherited disorders :
sickle cell, Huntington disease, cystic fibrosis, Tay-Sachs, albinism, Marfan syndrome, phenylketonuria
(PKU), familial hypercholesterolemia, porphyria variegata
3. Discuss the use of test crosses in determining whether an individual expressing the dominant phenotype
is homozygous or heterozygous.
4. Use a Punnett Square to calculate the probability that a particular couple will have a child who will inherit
a particular condition.
5. Construct a Punnett square to predict the outcome of monohybrid and single factor crosses involving
autosomal dominant and autosomal recessive traits.
6. Use a Punnett Square to predict the outcomes of a 2-factor or dihybrid cross.
7. Recognize the genotype of an organism as homozygous or heterozygous; recessive or dominant.
8. Relate meiosis to Mendel’s two laws.
9. Interpret a pedigree and predict inheritance patterns in a family. (Know and be able to use all of the
pedigree components on p82 of your text.)
10. Be able to draw and interpret pedigrees involving autosomal dominant and autosomal recessive traits.
11. Be able to determine the mode of inheritance from a pedigree.
12. Recognize how various phenomena can disrupt Mendelian phenotypic ratios.
13. Explain how lethal genes can affect the actual (as opposed to predicted) outcomes of a cross.
14. Explain how multiple alleles can affect the translation of the genotype to the phenotype.
15. Compare incomplete dominance and codominance.
16. Know the genotypes, surface antigens and their relationship to ABO blood types. (table 5.4, p93)
17. Explain how epistasis can affect phenotypes. Given information about epistatic gene action, predict
genotypes and phenotypes of individuals in a 2 factor cross.
18. Explain what may happen when different genes that encode different enzymes that participate in the
same biochemical pathway cause the same disorder.
19. Identify which parent contributes more DNA to a human baby and explain why this happens.
20. Compare nuclear DNA inheritance with mitochondrial DNA inheritance.
21. How does gene linkage effect dihybrid crosses; how does this confuse the law of independent assortment?
22. Describe how linkage maps are prepared in animals with large numbers of progeny and in humans.
23. Describe how scientists and technicians use a laboratory notebook.
24. Explain how work is done in a laboratory in a way that minimizes safety issues.
25. Be prepared to explain any laboratories in this unit and demonstrate the use of any techniques used in the
laboratory setting.
Vocabulary: (27 words) The quiz will be in a matching format. Approximately (20) of the words below will be on
the quiz. Research has shown that students are more likely to learn the meaning of unfamiliar words if they
memorize the definition in advance of encountering the word in a text. By the end of the unit you must
understand the meaning of each word in the context of this unit.
monohybrid cross
law of segregation
homozygous
heterozygous
allele
genotype
phenotype
wild type
Punnett Square
pedigree
codominant
epistasis
penetrance
pleiotropy
genetic heterogeneity
heteroplasmy
linkage
recombinant
OVER →
dominant
recessive
consanguinity
dihybrid cross
cytogenetics
linkage disequilibrium
haplotype
linkage maps
autosome
Resources:
Text:
Lewis, R. Human Genetics: Concepts and Applications, 10th ed. (2012). McGraw-Hill: New York, NY.
ch 4 & 5
Text Website: www.mhhe.com/lewisgenetics10
Important Dates:
Definitions Due: January 9
Vocabulary Quiz: January 14
Open Note Section Quizzes:
4.1:
January 10
4.2 - 4.3: January 15
4.4 - 4.5: January 17
5.1 - 5.2: January 22
5.3 - 5.4: January 24
Test: January 30