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8/8/2019 Study Guide Unit 2 Part B 2010
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Unit 2 Part B
Study Guide
2010
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Classical Genetics
Observable Patterns of Inheritance
Questions 1-13
Glossary terms Problem sets (2)
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Learn Terms
1. Learn the terms in the glossary,
Observable Patterns of Inheritance .
This is a word document.
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Q-1
1. An ear ly idea concerning inheritance was
the blending theory. What was it and
why was it deficient?
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A-1
1. An ear ly idea about inheritance was the
blending theory. What was it and why
was it deficient?
Traits from the male and female were
blended in the offspring.
If this were truth, then eventually, all
individuality would disappear.
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Q-2
What does the term locus mean?
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A-2
What does the term locus mean?
This is the location of a gene (whichchromosome and where on the
chromosome). Its address.
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Q-3
3. What are alleles?
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Answer 3
3. What are alleles?
These different molecular forms of thesame gene.
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Question 4
4. If two genes are homologous, what
does that mean?
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Answer 4
4. If two genes are homologous, what
does that mean?
Homologous means the same. They are
identical.
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Question 5
5. What does heterozygous mean?
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Answer 5
5. What does heterozygous mean?
Heterozygous means" different.Heterozygous for attached earlobes would
mean that the individual carries a normal
gene and a mutant gene.
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Question 6
6. If Sally is homozygous dominate for
gene A, how would you write that in
standard symbolic form? If she were
heterozygous for A? If she were
homozygous for the recessive form of A?
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Answer 6
6. If Sally were (a) homozygous dominate
for gene A, how would you write that in
standard symbolic form? (b) If she were
heterozygous for A? (c) If she were
homozygous for the recessive form of A?
AA,Aa, aa
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Question 7
7. Define phenotype.
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Answer 7
7. Define phenotype.
Phenotype refers to an individualsobservable traits
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Question 8
8. Define genotype.
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Answer 8
8. Define genotype.
Genotype refers to particular genes anindividual carries
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Question 9
9. How do you represent the first
generation of a cross?
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Answer 9
9. How do you represent the first
generation of a cross? Parental cross?
Second generation?
F1; P;F2
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Question 10
10. What is monohybrid cross (how many
traits are being investigated)?
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Answer 10
10. What is monohybrid cross (how manytraits are being investigated)?
It is a cross where two true breedingindividuals are mated (AA x aa). Usuallythey are homozygous dominant and
homozygous recessive. One trait (twoalleles).
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Question 11
11. Describe or define: dihybrid cross.
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Answer 11
11. Describe or define: dihybrid cross.
Experimental cross between individuals
that are homozygous for differentversions of two traits
Example:
AABB x aabb
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Question 12.
12. What three types of dominance?
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Question 12. What three types of
dominance?
12. What three types of dominance?
Complete dominance
Incomplete dominance
Codominance
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Question 13.
13. Define pleiotrophy.
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Answer 13
13. Define pleiotrophy.
Alleles at a single locus may haveeffects on two or more traits
Examples: Marfans syndrome and
Sickle CellAnemia
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Problem Sets
Go to:
http://www.biology.arizona.edu/mendelian
_genetics/mendelian_genetics.htm
l
Answer the two problem sets:
MonohybridCross and DihybridCross.
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Learn the Terms
Learn the terms in the glossary,
Observable Patterns of Inheritance .
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Chromosomes and Human
Genetics
Questions 1-20
Problem Set: Sex Linkage
Problem Set: Karyotyping Glossary: Chromosomes and Human
Genetics
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Q-1
1. The first abnormal chromosome tied to
cancer was named the ________
chromosome.
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A-1
1. The first abnormal chromosome tied to
cancer was named the _Philadelphia
_______ chromosome.
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Q-2
2. A ________ is a preparation of
metaphase chromosomes based on their
defining features.
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A-2
2. A __karyotype________ is a preparation
of metaphase chromosomes based on
their defining features.
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Q-3
3. The units of information about
heritable traits are known as ________.
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A-3
3. The units of information about heritable
traits are known as __genes________.
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Q-4
4. Diploid (2n) cells have pairs
of________ chromosomes.
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A-4
4. Diploid (2n) cells have pairs of
__homologous (sister)________
chromosomes.
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Q-5
5. _______ are different molecular forms
of the same gene that are possible at a
given locus; a ________-type allele is
the most common form of a gene.
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A-5
5. ___Alleles_______ are different
molecular forms of the same gene that are
possible at a given locus; a
__dominant________-type allele is the
most common form of a gene.
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Q-6
6. State the circumstances required for
crossing over and describe the results.
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A-6
6. State the circumstances required for
crossing over and describe the results.
Genes must be on the same
chromosome and afterCO, there will be
a new combination of maternal and
paternal mix of genes on the same
chromosome
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Q-7
7. Name and describe the sex
chromosomes in human males and
females.
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A-7
7. Name and describe the sex
chromosomes in human males and
females. XX(female); XY(male)
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Q-8
8. Human X and Y chromosomes fall into
the more general category of ________
chromosomes; all other chromosomes in
an individuals cells are the same in both
sexes and are called ________.
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A-8
8. Human X and Y chromosomes fall into
the more general category of
__sex________ chromosomes; all other
chromosomes in an individuals cells are
the same in both sexes and are called
__autosomes________.
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Q-9
9. Define karyotype; briefly describe its
preparation and value.
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A-9
9. Define karyotype; briefly describe its
preparation and value. A metaphase
preparation of chromosomal images
where the chromosomes are aligned in
groups (Largest to smallest)
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Q-10
10. Explain meiotic segregation of sex
chromosomes to gametes and the
subsequent random fertilization that
determines sex in many organisms.
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A-10
10. Explain meiotic segregation of sex
chromosomes to gametes and the subsequent
random fertilization that determines sex in many
organisms. XandYchromosomes are sisterchromosomes. In a female, each gamete can
only receive a X; in the male each gamete
has a 50: 50 chance of receiving an Y
chromosome. Thus the male determines thegender of the individual offspring.
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Q-11
11. A newly identified region of the Y
chromosome called __________ appears
to be the master gene for sex
determination. All the genes on a specific
chromosome are called a __________
group.
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A-11
11. A newly identified region of the Y
chromosome called ___SRY
region_______ appears to be the master
gene for sex determination. All the genes
on a specific chromosome are called a
__linkage________ group.
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Q-12
12. Explain why the term "sex-linked
genes" is less precise than the use of the
terms, X-linkedand Y-linked genes.
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A-12
12. Explain why the term "sex-linked
genes" is less precise than the use of the
terms, X-linkedand Y-linked genes. The
SRYregion is on the Ychromosome
(most of the time) and thus is linked to
the chromosome not just to a small
group of genes.)
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Q-13
13. State the relationship between
crossover frequency and the location of
genes on a chromosome.
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A-13
13. State the relationship between
crossover frequency and the location of
genes on a chromosome. The closer the
linkage, the lower the crossover rate.
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Q-14
14. ________ is a chart of the geneticconnections between individuals; be familiarwith the standardized symbols used in suchcharts.
A genetic ________ is a rare, uncommonversion of a trait whereas an inherited genetic
_________ is an inherited condition thatsooner orlater will cause mild to severe
medical problems.
A ________ is a recognized set of symptomsthat characterize a given disorder.
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A-14
14. __ Pedigree________ is a chart of thegenetic connections between individuals; befamiliar with the standardized symbols used insuch charts.
A genetic __abnormality________ is a rare,uncommon version of a trait whereas aninherited genetic _disorder_________ is aninherited condition that sooner orlater will cause
mild to severe medical problems.
A __ syndrome________ is a recognized set ofsymptoms that characterize a given disorder.
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Q-15
15. Describe what is meant by a genetic
disease.
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A-15
15. Describe what is meant by a genetic
disease. It is an inherited condition that
sooner or later will cause mild to
severe medical problems.
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Q-16
16. Describe the characteristics of
Hutchinson-Gilford progeria syndrome.
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A-16
16. Describe the characteristics of
Hutchinson-Gilford progeria syndrome.
Early progressive aging such that the
individuals are biologically aged at themid-teens. Dominant, random mutation.
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Q-17
17. A(n) ________ is a loss of achromosome segment; a(n) _________is a gene sequence separated from a
chromosome but then was inserted atthe same place, but in reverse; a(n)________ is a repeat of several genesequences on the same chromosome;
a(n) _________ is the transfer of part ofone chromosome to a nonhomologouschromosome.
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A-17
17. A(n) __deletion________ is a loss of a
chromosome segment; a(n)
_inversion_________ is a gene sequence
separated from a chromosome but then wasinserted at the same place, but in reverse; a(n)
__duplication________ is a repeat of several
gene sequences on the same chromosome; a(n)
_translocation_________ is the transfer of partof one chromosome to a nonhomologous
chromosome.
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Q-18
18. When gametes or cells of an affected
individual end up with one extra or one less
than the parental number of chromosomes, it
is known as _______; relate this concept tomonosomy and trisomy.
Having three or more complete sets of
chromosomes is called ________.
________ is the failure of the chromosomes toseparate in either meiosis or mitosis.
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A-18
18. When gametes or cells of an affectedindividual end up with one extra or one less thanthe parental number of chromosomes, it isknown as ___aneuploidy_______; relate thisconcept to monosomy and trisomy.
Having three or more complete sets ofchromosomes is called __trisomy________.
__nondisjunction________ is the failure of thechromosomes to separate in either meiosis ormitosis.
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Q-19
19. Trisomy 21 is known as _______
syndrome; Turner syndrome has the
chromosome constitution, ________;
XXY chromosome constitution is_________ syndrome; taller than
average males with sometimes mild
mental impairment have the ________condition.
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A-19
19. Trisomy 21 is known as
__Downs_______ syndrome; Turner
syndrome has the chromosome
constitution, __of 45________; XXYchromosome constitution is
_Klinefelters_________ syndrome; taller
than average males with sometimes mildmental impairment have the
__XYY________ condition.
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Q-20
20. List some benefits of genetic screening
and genetic counseling to society.
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A-20
20. List some benefits of genetic screeningand genetic counseling to society.
Principally, an afflicted individual could
get immediate medical attention tomanage the genetic medical problem(s)associated with the genotype. Othersmay feel that a pregnancy should be
terminated if the fetus has a seriousgenetic problem.
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Problem Set, Sex Linkage
Go to:
http://www.biology.arizona.edu/mende
lian_genetics/mendelian_genetics.html
Do the problem set: Sex
LinkedInheritance 1
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Problem Set: Karyotying
Go to:
http://www.biology.arizona.edu/mende
lian_genetics/mendelian_genetics.html
Do the problem set: Karyotyping Activity