Unit 5 Study Guide
Unit 5 Study Guide
Unit 5 Study Guide
13.2: somatic cells are diploid cells meaning they have two sets of chromosomes and 23 in
each, so a total of 46 chromosomes (1 pair of sex chromosomes and 22 pairs of autosomes).
one set of maternal, and one paternal. in a pair, the two chromosomes are homologous
chromosomes or homologs. they have the same genes at the same loci, but different alleles.
the only pair which this doesn’t apply to is the sex chromosomes (female = XX, males = XY),
many of the genes in the large X are missing in the small Y. all eggs contain X chromosomes,
and half of the sperm have X/Y. there are three different types of life cycles. first, for
mammals: the diploid cells produce haploid gametes which fertilize each other to form a diploid
zygote which goes through mitosis. next, for plants and some algae there is alternation of
generations: the diploid multicellular organism called the sporophyte produces haploid cells
which then go through mitosis to form the multicellular gametophyte which produces haploid
gametes through mitosis which then fertilize each other and then mitosis to form the sporophyte.
last, some fungi and protists: have a haploid multi/unicellular organism which then produces
haploid gametes via mitosis, which fertilize each other to form a diploid zygote, which then
forms meiosis and then mitosis to form the haploid organism.
13.3: overview of meiosis. Before it occurs, the chromosomes are duplicated into sister
chromatids, but then the cell goes through two divisions producing four haploid cells. In meiosis
I, during prophase I following the formation of condenses sister chromatids, there are dna
breaks in non sister chromatids at corresponding locations. Then, during synapsis (the
association of homologs), a synaptonemal complex is formed, and the dna breaks are closed by
crossovers in the non-sister chromatids. after the synaptonemal complex disintegrates, these
points of crossovers are called chiasm or chiasma. in metaphase I, the homologs line up
together in the metaphase plate, and a microtubule is attached to each homolog. in anaphase I,
the cohesins along the sister chromatids’ arms are broken down, and then the homologs move
to either ends of the cell. by the time telophase and cytokinesis begin each side of the cell has
the complete haploid set of chromosomes. meiosis II is quite similar to mitosis except for the
fact that the chromosomes are not duplicated before it, and the sister chromatids (from meiosis
I) are not identical due to the crossing overs. It ends with four haploid, daughter cells.
14.2: according to the multiplication rule, the chances of two events happening simultaneously
is found by multiplying the chances of the two. according to the addition rule, the chances of
two events happening independently is found by adding the two. imagine you are solving to see
how many of the dihybrid cross in the F2 generation will have the recessive traits for both
alleles. AaBb x AaBb, first you solve for the chances of getting aa, which is ¼ and then multiply
is by ¼ to get 1/16.
14.3: mendel’s gene idea was simple- we need to discuss more complex ideas. first of all,
certain allele don’t always show complete dominance- there could be incomplete dominance
when the phenotype is an intermediate, or codominance in which both phenotypes are present
(it varies depending on your perspective, molecular, biochemical, etc,) additionally, multiple
alleles can exist for one gene, and, one gene can have multiple phenotypic effects (pleiotropy).
Sometimes, more than one gene affects a single phenotypic effect. Epistasis is the phenotypic
expression of a gene at one locus impacting the phenotypic expression of a gene at another
locus. Polygenic inheritance is when multiple genes work on one phenotype, often
quantitative characters (traits come in gradients). Oftentimes, these phenotypes are
multifactorial (meaning its impacted by both the environment and the genotype).
14.4: A pedigree is a family tree that tracks traits. Most genetic disorders are recessive, as
their heterozygous carriers have higher chances of survival. In the heterozygotes the normal
protein accounts for the malfunctioning protein. Incest increases the chances of two carriers
meeting and having offspring with the disorder. cystic fibrosis is a disorder in which the
chloride ion transport channels are missing leading to increases mucus. additionally, sickle cell
disease is common amongst african-americans- at a molecular level though, it is codominant.
most dominant genetic disorders aren’t passed down as they kill the host before reproductive
age except for hutchinsons and dwarfism. some diseases are multifactorial: depression, heart
attack. as of recent, there are tests in place like amniocentesis (a needle in the fluid) or
chorionic villus sampling which would take a sample from the placenta and then test it.
however, recently ultrasound and blood testing has become more popular.
15.2: X and Y chromosomes only have the ends of the Y chromosome homologous (allowing
for their pairing during meiosis). In the Y chromosome, there is a gene required for the
development of testes- its called the SRY (sex-determining region of Y). any chromosome on
the sex chromosomes are called sex-linked genes (x-linked or y-linked). most x-linked
disorders are more prevalent in males as they are recessive in females. For all x-linked genes,
males are hemizygous as they don’t have another in females, one of the Xs always deactivate
and form a barr body (except in gametes/meiosis). the interaction of the xs in early embryonic
development leads to the activation of the x-inactive specific transcript on the future barr body,
leading rna to wrap the X chromosome- leading to X inactivation.
15.3: genes located near each other on a chromosome are called linked genes, as they are
typically inherited together- but not necessarily. parental types are phenotypes identical to the
P generation, and ones that don’t resemble either parent are called recombinant types. often
times, crossing over results in the separation of alleles on the same chromosome. recombinant
frequency the further two loci are- a genetic map based on recombination frequencies is a
linkage map (in map units, one map unit = 1% recombination frequency). the max value of
recombination is 50%, the value for two different chromosomes. cytogenetic maps are more
reliable.
15.4: in nondisjunction, sister chromatids or homologous don’t separate properly and that
results in aneuploidy (having an uneven number of chromosomes). being trisomic means
having an extra chromosome, and monosomic means lacking one. sometimes polyploidy
occurs in which there are additional sets of chromosomes (total nondisjunction or failure to
separate after duplication). there are four types of alteration to chromosome structures:
deltion, duplication (homolog or sister), inversion (same chromosome), and translocation (non
homolog). down syndrome is the result of trisomy 21. xxy leads to klinefelter’s syndrome =
male sex organs but sterile. xyy = tall. xxx = learning disabilities and tall. xo = infertile.
15.5: according to genomic imprinting, alleles can behave differently depending on whether
they have been inherited by the mother or father. when genes are imprinted during gamete
formation, some are inactivated depending on whether they are maternal or paternal
(sometimes by the addition of CH3 methyl). additionally, organelles just replicate amongst
themselves, and the egg contains all the organelles of the future zygote.
Questions Answers
What is heredity? how does it differ in Heredity is the inheritance of traits from our
sexual/asexual reproduction? parents. In sexual reproduction, our traits vary
from out parents, but in asexual reproduction
we are clones.
What are genes, where are they located? Genes are units of inheritance located along
the length of a strand of DNA (each a specific
sequence of nucleotides). Their specific
location is called a loci.
What are diploid cells? haploid cells? Diploid cells have two sets of chromosomes,
haploid have one.
What are homologs? how do they differ in sex There are 23 types of chromosomes and 2 of
chromosomes vs autosomes? each type (homologs). They code for the
same genes in autosomes. But, in the sex
chromosomes they can sometimes differ: ex
XY.
What are the three different types of life mammals: diploid performs meiosis →
cycles? haploid cells fertilize → diploid zygote
performs mitosis
What occurs before meiosis? define it. interphase but only once, you replicate the
chromosomes into sister chromatids.
What occurs in the prophase I of meiosis I? synapsis: homologs associate along their
lengths and a synaptonemal complex is
formed, and parts of the homologs that had
been torn off attach. once the synaptonemal
complex deforms the homologs have been
crossed over. the nuclear envelope and
nucleus have already fragmented. the
microtubules have formed and attached to
kinetochores.
What occurs in the rest of meiosis I? in metaphase, they line up with their
homologs and chiasmatas at the metaphase
plate. in anaphase, the cohesins along the
arms of the sister chromatids tear, so the
homologs separate. regular telophase occurs
resulting in two haploid cells.
What occurs in meiosis II? replication does not occur beforehand, but
otherwise similar to mitosis. and, not all the
sifter chromatids are identical due to crossing
over.
How does crossing over contribute to genetic after crossing over, chromosomes now
variation? contain genes from both parents forming
recombinant chromosomes.
Questions Answers
What is true-breeding? Corresponding A true breeding plant has been self pollinating
generation? for generations. When every offspring is
identical to the parent for generations, and
the corresponding generation is the P
generation.
How do you uncover a missing genotype? You perform a test cross with an organism
that is homozygous recessive for that trait.
What is the multiplication rule? Addition? The probability of two separate events
occurring (either/or), is the sum of the
probability of both events. The probability of
two events happening at the same time is the
product of the probability of the two events.
Define incomplete and codominance These vary depending on the lens you are
looking through. In incomplete dominance,
the phenotype is an intermediate of the
recessive and dominant phenotypes. In
codominance, both phenotypes are
expressed.
What are quantitative characters? The phenotypes are more of a spectrum than
specific options (ex: skin).
Describe common genetic disorders. Talk Most genetic disorders are recessive, and
about cystic fibrosis. therefore, most people heterozygous for them
are carriers. In cystic fibrosis, the chloride ion
channels are missing, therefore, when
heterozygous the dominant allele accounts
for the missing channels.
Questions Answers
Explain Morgan’s experiment. He bred two flies, a male with white eyes and
a female with red eyes. The F2 generation
only had males with white eyes.
What are sex linked genes? X-linked Sex linked genes are genes on the sex
disorders? Hemizygous? chromosomes. X-linked disorders are much
more common for males, as they are
hemizygous for them (they do not have a
corresponding Y gene for it).
What are linked genes? Linked genes are genes close enough on a
chromosome that they do not assort
independently.
Parental types vs recombinant types Parental types are identical to the parents,
and recombinant are not.
Why are alleles on the same chromosome not Crossing over. You can map the likelihood
always inherited together? using a linkage map which is measured in
map units = 1% chance of crossing over.
What are the four types of alterations to Deletion, Translocation onto a nonhomolog,
chromosome structures? Duplication onto a sister/homolog, or an
inversion on itself.
How do organelles replicate pass down The organelles duplicate inside the cell, and
genes? the egg contains said organelles.