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