HGen: Semester Exam Study Guide
Review all previous quizzes and tests!
Chapter 4: Modification of Mendelian Ratio
The general idea of Chapter 4 is the multitude of different ways that genes are expressed that DON’T fit Mendel’s original
ideas of inheritance. There was a significant number of NEW vocabulary words introduced in this large chapter.
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Vocabulary
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Wild-type allele
o
Loss-of-function mutation
o
Null mutation
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Gain-of-function mutation
o
Neutral mutations
o
Lethal mutations/alleles
o
Epigenetics
o
Epigenesis
o
Epistasis
o
Penetrance
o
Expressivity
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Differentiate between INCOMPLETE and CODOMINANCE
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Review blood group inheritance
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o
ABO:
o
MN:
o
Rh Factor:
o
Bombay phenotype:
Be able to describe the significant inheritance description for the following human conditions:
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Tay-Sach’s Disease
o
Huntington Disease
o
Color blindness
o
Duchenne muscular dystrophy
o
Male pattern baldness
o
Lesch-Nyhan syndrome
o
MERRF
Describe the issues surrounding sex-linked (X-linkage) inheritance in human males

Describe the significance of mitochondrial DNA in term of human disease and inheritance.
o
How is mtDNA passed from parents to offspring?
o
Why is mtDNA vulnerable to mutations?
o
What VITAL biochemical process is faulty when mutations occur in mtDNA?
Chapter 3: Mendelian Genetics
Chapter 3 focused on those ideas taught in biology; the ideas first prescribed by Gregor Mendel, the Father of Modern
Genetics.
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
Know your VOCABULARY
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Trait
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Allele
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Gene segregation
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Phenotype
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Genotype
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Homozygous
o
Heterozygous
Know Mendel’s Postulates
o
1.
o
2.
o
3.
o
4.
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Ability to INDEPENDENTLY ASSORT alleles for DIHYBRID and TRIHYBRID crosses, selecting answers from a
multiple choice list.
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Differentiate between pedigrees based on available information
o
Autosomal dominant and recessive
o
Sex-Linked (X-linked) dominant and recessive
Chapter 6: Chromosome Mutation/Variation in Number and Arrangement
Chapter 6 focused on failure of chromosomes to separate properly during meiosis that results in variation of
AUTOSOMAL chromosome numbers in gametes.
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What is the difference between a –somy and a –ploidy chromosome number?
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Describe a monosomy condition
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Describe a trisomy condition
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What is the difference between a genetic mutation and a chromosomal aberration?
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Be able to describe NONDISJUNCTION during meiosis that leads to monosomic and trisomic conditions.
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Why can some –somy conditions be tolerated in humans but –ploidy conditions cannot be tolerated?
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Describe the relationship between chromosome SIZE and LETHALITY of trisomy conditions
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Identification of karyotypes/chromosome number for Down syndrome, Edwards Syndrome, and Pateu Syndrome
Chapter 5: Sex Determination and Sex Chromosomes
Chapter 5 concentrated on the differences between the sex chromosomes for male and female organisms. Also covered
in this chapter were fetal sex development and sex chromosome conditions that can lead to developmental issues.
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Vocabulary to Know:
o
heteromorphic chromosomes
o
Primary sex differentiation
o
Secondary sex differentiation
o
heterogametic sex
o
homogametic sex
o
heterogamete
o
Bipotential gonads
o
Mullerian ducts
o
Wolffian ducts
o
Testis-determining factor
o
disjunction vs nondisjunction
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Understand the process of sex differentiation in humans; timing of events for specific structures
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Describe oogenesis and spermatogenesis in humans. How are they alike? How are they different?
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Human DIPLOID number is ________; HAPLOID number is ________.
Be able to differentiate human chromosome numbers in -ploidy conditions and –somic conditions.
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Describe nondisjunction and the impact it CAN have on gamete chromosome numbers.
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Be able to identify the critical areas AND describe the functions of the Y chromosome and its influence in sex
differentiation.
PAR
MSY
SRY

What allows the X and Y chromosomes to synapse during conception/What region of each chromosome allows
this to occur? What term is used to describe the relationship between the X and Y chromosomes?
Chapter 2: Mitosis and Meiosis

Know the following terms:
CHROMATIN:
CHROMOSOMES:
SISTER CHROMATIDS:
HOMOLOGOUS CHROMOSOMES:

Know the ORGANELLE chart from your notes to describe the function of cell organelles

Describe the appearance of chromosomes based on centromere location.
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Describe the cell clock and apply to the type of cell that divides
LABILE:
STABILE:
PERMANENT:
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What is the purpose of MITOSIS?
What is the order of steps?
What is the general description of chromosome action in mitosis?
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What is the purpose of MEIOSIS?
What is the order of steps?
What is the general description of chromosome action in meiosis?

Know the following terms:
MONAD:
DYAD:
TETRAD:
GENETIC VARIATION:
CROSSING OVER:
Chapter 1: Introduction to Genetics
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Know the differences between PROKARYOTES and EUKARYOTES
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What is the function of DNA?
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What is a MUTATION?
What causes mutations?
What 3 categories do mutations fall into and provide an example of each.
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What is RECOMBINATION?
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Describe CLONING.
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What organisms are currently being genetically engineered and for what purposes?

Know the following terms
DIPLOID:
HAPLOID:
HOMOLOGOUS CHROMOSOMES:
ALLELE:
GENOTYPE:
PHENOTYPE: