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Patterns of Inheritance Patterns of Inheritance I

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Patterns of Inheritance Patterns of Inheritance I Powered By Docstoc
					                                          Patterns of Inheritance


                                     I. Meiosis and Gametogenesis (Ch. 13)

A. Introduction
              Genetics is the study of heredity and variation. Heredity is the continuity of biological traits
              from one generation to the next. These traits are passed from parents to offspring in genes on
              chromosomes. Variations are the inherited differences among individuals of the same species

         Like begets like…more or less.

B. Comparing Sexual and Asexual Reproduction

                     Asexual                                                   Sexual
                   Single “parent”


                                                           Each parent passes on half its genes to offspring


 Offspring are a genetic clone. Diversity can occur
            only as a result of mutation


Alternation of meiosis and fertilization is common to all sexually reproducing organisms.


C. Why isn’t mitosis enough?

             The body or ____________________________ cells in a sexually reproducing organism are
             said to be _________________________, meaning they get one set of chromosomes from the
             male parent and one set of chromosomes from the female parent. In humans, we get 23
             chromosomes from mom, and 23 corresponding or matching chromosomes from dad. These
             corresponding chromosomes are ___________________________________, or paired
             because they carry genes for the same information.

                   Homologous chromosomes are a pair of chromosomes of the same length, centromere
             position, and staining pattern that possess genes for the same characteristics at corresponding
             loci.

                  In sexual reproduction, the gametes from opposite sexes unite to form a _____________.
             Because the zygote is diploid (in the case of humans, it has 46 or 23 pair of chromosomes), the
             number of chromosomes in gametes must be ___________________. This occurs during the
             process of meiosis.
                  Meiosis consists of two successive nuclear divisions. It is a process of reduction division
             in which the number of chromosomes per cell is cut in half and the homologous chromosomes
             that exist in a diploid cell are separated. This creates ____________________________ cells.
D. Stages of Meiosis

        Meiosis I (the * shows how the phase differs from the phase during mitosis)

                 1. ____________________________________
                  same as mitosis except
                 * homologous chromosomes pair up to form tetrads, & crossing-over occurs. Sites of
                  crossing over are called

                 2. ____________________________________
                    pairs of homologous chromosomes line up at the center of the cell.
                   * homologous chromosomes, each made of 2 chromatids, stay together.

                 3. ___________________________________
                    homologous chromosomes separate move to opposite sides of the cell.
                  * Chromatids do not separate at their centromeres. Nondisjunction, or failure
                   of chromosomes to separate evenly into 2 cells, can occur here.


                 4. ___________________________________
                   chromosomes are gathered at the two opposite poles. They are still duplicated and
                   chromatids are still connected at centromeres. Cytokinesis occurs and there are now 2
                   daughter cells, each with 1/2 the number of chromosomes as the original cell.

        Meiosis II
          Meiosis II is essentially just like mitosis. The result is 4 _______________________ (1/2 the
          number of chromosomes) daughter cells, that are NOT genetically identical to the original cell.
E. Meiosis & Genetic Variation


                The process of meiosis and sexual reproduction provides genetic variation for the species
        in 3 ways:

                 1. _________________ ____________________ - exchange of corresponding segments
                 of homologous chromosomes in prophase I

                 2._________________ ____________________ ______ ________________________
                 - how homologous chromosomes are arranged in metaphase I

                 3. ______________________ ________________________________- the variety of
                 gametes produced in two individuals can combine in almost limitless ways.

                 Inheritable variation is the basis for Charles Darwin’s theory that natural selection is the
                 mechanisms for evolutionary change. A genetic variation that makes an organism better
                 suited to its environment will allow the organism to live longer, produce offspring,
                 thereby passing on its genetic traits.
An organism has 6 chromosomes in its somatic cells. Draw the chromosomes and spindle fibers in the cells
below. For meiosis, show 1 point of crossing over, making sure to carry it through.


Mitosis




     prophase              metaphase                 anaphase                          telophase


Meiosis




prophase I                  metaphase I                anaphase I                      telophase I/
                                                                                       cytokinesis




prophase II               metaphase II              anaphase II                  telophase II/
                                                                                  cytokinesis
F. Comparing Mitosis and Meiosis


 Mitosis                                                  Meiosis
1                                                        produces haploid daughter cells unlike parent cell

involves one cell division                               2

produces two daughter cells                              3

4                                                        homologous chromosomes pair then separate

individual chromosomes line up at metaphase plate        5

no crossing over occurs                                  6

7                                                        needed for sexual reproduction




                                          II. Inheritance Patterns (Ch. 14)

A. Gregor Mendel
        The formal study of genetics began with the work of a 19th-century monk named ____________
        ________________. (1822-1884)

                    Mendel began breeding and observing pea plants in his Augustinian monastery in Brno
           (currently Czech Republic) in the mid 1800’s. He studied 7 traits in peas to see how they were
           passed from one generation to the next.



           Steps to Mendel’s Experiments

                      1. Allow peas to self-pollinate for a few generations. You get a pure organism. This is
                      called _______________, or ____ generation.

                      2. Cross-pollinate 2 varieties with contrasting traits. This is called __________________

                      _________________, or ______ generation.

                      3. Allow F1 generation to self-pollinate. Their offspring are the __________ generation

           Results:

           Traits did not blend. One trait was _______________________(expressed in F1) and one trait was

           ______________________ (not expressed in F1). A capital letter indicates the dominant trait, and

           the same lower case letter indicates the recessive trait.

           ratios:
                      F1 - All 1 trait (dominant one)
                      F2 - 3:1, dominant: recessive

           What did Mendel’s results mean?
B. Mendel’s Principles or Laws

         1. Parents pass on “factors” to their offspring that will determine their traits (these factors are
         _______________ - a segment of DNA that codes for a particular protein).

         2. A sexually reproducing organism has 2 factors (genes) for each trait - one from mom & one
         from dad. These genes may have the same information (homozygous) or they may have different
         information (heterozygous). A form of a gene for a trait is called an allele.

         3. Principle (Law) of _____________________________ - the two forms of each gene (the
         alleles) separate when gametes are formed (meiosis).


         4. Principle (Law) of __________________________ ______________________________ - the
         genes for different traits separate independently of one another during gamete formation. (if they
         are on different chromosomes).

         Geneticists now call the genetic makeup of an organism its ____________________. The outward

         appearance is the ________________. The phenotype may not always reflect the genetic make-up




C. Probability and Genetics Problems

Mendel’s laws of segregation and independent assortment reflect the same laws of probability that apply to
tossing coins or rolling dice. The probability scale ranges from zero (an event with no chance of occurring)
to one (an event that is certain to occur).

The probability of tossing heads with a normal coin is 1/2.

The probability of rolling a 3 with a six-sided die is 1/6, and the probability of rolling any other number is 1
- 1/6 = 5/6.

When tossing a coin, the outcome of one toss has no impact on the outcome of the next toss.
Each toss is an independent event, just like the distribution of alleles into gametes.
Like a coin toss, each ovum from a heterozygous parent has a 1/2 chance of carrying the dominant allele
and a 1/2 chance of carrying the recessive allele. The same odds apply to the sperm.

         1. Rule of multiplication (and)

                  What is the likelihood of two more events occurring together? (this AND this)

                  Compute the probability of each independent event.
                  Then, multiply the individual probabilities to obtain the overall probability of these
                  events occurring together.

         2. Rule of addition (or)

                  Under the rule of addition, the probability of an event that can occur two or more
                  different ways is the sum of the separate probabilities of those ways. (this OR this)
         problems:

                  What is the chance that two coins tossed at the same will land heads up?




                  What is the probability that you could roll a die three times in a row and get all threes?




                  For fun on Saturday night, you and a friend are going to flip a fair coin 10 times
                  (geek!). You flip HTHHTHTTTH. Your friend flips HHHHHHHTTT.

                  Which sequence is more likely to occur?




                  If you roll a die, what is the probability that you will get a 2 or a 6?


D. The Punnett Square

Steps for Using a Punnett Square

         1. Draw the square.

         2. Decide what alleles can be in the gametes of each parent.

         3. Write the letters that stand for the possible alleles in one gamete along the side of the square.

         4. Write the letters that stand for the possible alleles in the other gamete along the top of the
         square.

         5. Copy the letters into the boxes below each letter on the top.

         6. Copy the letters into the boxes beside each letter along the side.

         7. Look at the small boxes in the large square. These show the possible
         combinations for offspring.


         To predict the outcome for offspring:


probability of a                        # of 1 kind of outcome
particular outcome          =           total # of outcomes

E. The Monohybrid Cross
        a cross between 2 organisms to study the inheritance of a single trait.
F. The Dihybrid Cross
        a cross between 2 organisms to study the inheritance of 2 traits.


G. Relationship Between Genotype and Phenotype - Variations in Mendelian Genetics

           We have seen that some traits are dominant - they will be expressed even if the trait comes from
only 1 parent. Some traits are recessive - you must get the trait from both parents for it to be expressed.
Dominance does not mean an allele subdues another one at the level of the DNA - it is a result of how a
trait is expressed phenotypically. Dominant alleles are not necessarily more common, and recessive alleles
more rare.




         There are also variations to Mendelian gene expression.

         1. ____________________ ___________________ - occurs when alleles of a gene are neither
         dominant nor recessive - the phenotype of offspring will be intermediate.

         Example #1 - combining red & white snapdragons give offspring that are pink. Alleles are CR &
         CW.

                 Since heterozygotes can be distinguished from homozygotes by their phenotypes in
         incomplete dominance, the genotypic and phenotypic ratios are the same; 1:2:1.

         Example #2 - Sickle cell anemia. Alleles are HbA and HbS. HbAHbA = normal hemoglobin.
         HbSHbS = all sickle cell hemoglobin. HbAHbS = a blend of normal & sickle cell hemoglobin, or
         sickle cell trait. This is a selective advantage in Africa, where it protects against malaria.


         2. ___________________________ - both alleles for a gene are expressed (show up) when
         present. There is no blending of the traits.

         3. ___________________________ - a gene that has three or more alleles.


         An example of both codominance and multiple alleles is - ABO blood types.

                                            ABO Blood Types

                  There are 4 blood types: A, B, AB, O. These letters refer to the A and B carbohydrates
         found on the red blood cells - O means no carbohydrate is on the RBCs. There are 3 genes that
                               A B                                                                         A
         control blood types: I , I , and i. You will get 2 genes, one from your mom, one from your dad. I
              B
         and I are codominant; i is recessive to both.

         Phenotype (blood type)              Genotype

         A                                   _________________________

         B                                   _________________________

         O                                   _________________________

         AB                                  _________________________
         4. ____________________________ - traits that are controlled by two or more genes. You tend to
         get a continuous variation of phenotypes. Examples are height, weight, skin color.

         5. ____________________________ - the ability if a single gene to have multiple phenotypic
         effects. Ex. sickle cell allele deforms the red blood cells, starting a cascade of symptoms
         throughout the body.

         6. ____________________________ - Interaction between two non-allelic genes in which one
         modifies the phenotypic expression of another.

         Nature vs. Nurture - Environmental conditions can influence the phenotypic expression of a gene,
         so that a single genotype may produce a range of phenotypes. Example - nutrition can influence
         height, experience can affect performance on intelligence tests.
                             III. The Chromosomal Basis for Inheritance (Ch. 15)

A. The Chromosomal Theory of Inheritance
        Formulated around 1902. States that Mendelian genes have specific loci (locations) on
chromosomes, and it is the chromosomes that undergo segregation and independent assortment..

        The main scientist who provided convincing evidence that Mendel’s inheritable factors are located
on chromosomes was Thomas Hunt Morgan, who worked with fruit flies.



         ________________________ a chromosome that is not directly involved in determining sex; not a
sex chromosome.
         ______________ _____________________ a chromosome responsible for determining the sex of
the individual.

B. Discovery of Sex-linked Genes

         1. Sex-linked genes
                  Are genes that are located on a sex chromosome – the X chromosome. Fathers pass sex
         linked alleles to all of their daughters, none of their sons. Mothers can pass sex-linked alleles to
         daughters or sons.

         2. Sex-linked disorders

                  Are almost exclusively due to recessive alleles. For females to have the disorder, they
         would have to have 2 defective X’s – be homozygous. With one affected X, they are carriers.
         Males, however, have only 1 X, so if it carries a defective allele for a sex-linked trait, he will have
         the disorder. Males cannot be carriers.

                  Examples:

                  Color blindness – XB – normal allele; Xb = allele with defect for colorblindness
                  Hemophilia - XH – normal allele; Xh = allele with defect for hemophilia


 C. Tracking Family Traits – Analyzing Pedigrees
         In order to learn about an inherited trait, scientists look at family histories, called pedigrees. By
doing this, it can be determined if the trait is dominant or recessive, and if it is sex-linked or autosomal.
        How to Analyze a Pedigree

        1. Is the trait sex-linked or autosomal?
        - If it is sex-linked, it is usually seen only in males.

        2. Is the trait dominant or recessive?
        - If it is dominant, every person with the trait will have a parent with the trait. If it is
          recessive, a person with the trait can have normal parents (with heterozygous genotype).

        3. Is the trait determined by a single gene, or several?
        - If it is determined by 1 gene, children will be affected by ~ 3:1 ratio when parents are
           heterozygous.



D. Linked Genes
         Genes located on the same chromosome tend to be linked in inheritance and do not assort
independently. They are called ___________________ _______________. Since independent assortment
does not occur, you will not get the predicted ratios in offspring for a dihybrid cross.

E. Genetic Recombination
        Genetic recombination is the production of offspring with new combinations of traits different
from those combinations found in the parents. This occurs because of the events of meiosis (independent
assortment & crossing over) and random fertilization

        1. recombination of ______________________ genes - independent assortment of chromosomes

        2. recombination of ______________________ genes - crossing over

        This is due to crossing over in meiosis. If genes are totally linked on chromosomes, there should
        be no genetic recombination; in a test cross of heterozygous x homozygous recessive, you would
        get a phenotypic ratio of 1:1 of parental phenotypes only.
        If genes are unlinked, the offspring of the above test cross shows a 1:1:1:1 ratio of all phenotypes,
        with half the same as the parental, & half different. The offspring with different phenotypes are
        called recombinants, and the recombination frequency is 50%.

        You can calculate the recombination frequency with the following formula:

        recombination                          # recombinants
        frequency                    =         # total offspring x 100



        A linkage group is two or more genes located close enough together on the same chromosome that
    they tend to be inherited together.

        3. mapping genes
                 Recombination data can be used to map a chromosome’s genetic loci. The probability of
        crossing over between 2 genes is directly proportional to the distance between them.
        The distance between genes is measured in map units, and on map unit (or centimorgan, in honor
        of Morgan), is equal to 1% recombination frequency.

        Problem:
        Determine the sequence of genes along a chromosome based upon the following recombination
        frequencies: A-B = 8; A-C = 28; A-D = 25; B-C = 20; B-D = 33
E. Chromosomal Disorders
         Although mistakes in the process of duplicating genetic information & transmitting it to the next
generation are rare, they do happen. These mistakes are called mutations, and they can occur on the
chromosome or in the gene.

         1. Alteration of chromosome __________________

         _________________________________ - failure of homologous chromosomes to separate during
         meiosis I. Two of the resulting gametes will have an extra chromosome (trisomy), and two will be
         short a chromosome (monosomy).

         One of the most common trisomies is trisomy 21, or Down syndrome.

         Klinefelter syndrome - nondisjunction in the sex chromosomes - XXY

         Turner syndrome - also nondisjunction in the sex chromosomes - XO
         2. Alteration of chromosome ___________________

                  a. __________________- loss of part of a chromosome.
                  b. __________________- a segment of chromosome is repeated.
                  c. __________________- part of a chromosome becomes oriented in the reverse of its
                           usual direction.
                  d. __________________- part of one chromosome breaks off and attaches to another,
                    non-homologous chromosome.
        3. __________________________


A ____________________________ is a picture of the chromosomes in a cell at metaphase. They are
arranged in order by size, centromere position, and banding pattern. chromosomal abnormalities can be
detected by looking at a karyotype.
                  Chromosomal abnormalities in a baby can be determined before birth. There
         are two methods commonly used:

                 a. _______________________________ - amniotic fluid containing embryo cells is
                 removed from the sac surrounding the developing embryo using a needle. A karyotype of
                 the chromosomes in the cells is made.

                 b. __________________ __________________ ___________________ - a sample of
                 embryonic cells is removed from the membrane surrounding the embryo. A karyotype is
                 made using these cells.

				
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