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Genetics Exam 1
Terms and Concepts
81
Biology
Undergraduate 4
02/01/2009

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Term
____ ________ and _____ are required for normal growth and development.
Definition
Cell division and death
Term
Mitosis produces new cells and only occurs in what kind of cells?
Definition
somatic cells
Term
What is apoptosis?
Definition
cell death that is part of normal development
Term
What is necrosis?
Definition
cell death in response to injury
Term
With regards to the cell cycle, what happens during the S phase? G phase? M phase? G1 phase? G2 phase?
Definition
S phase - DNA synthesis
G phase - gap for growth
M phase - mitosis (nuclear division)
G1 phase - cell division or cytokinesis
G2 phase - not sure yet
Term
What happens during interphase?
Definition
1) Prepares for cell divsion
2) Replicates DNA and subcellular structures
3) Composed of G1, S, and G2
4) Cells may progress to mitosis or enter G0
5) A quiescent phase
Term
Cytokinesis is also known as what?
Definition
cell division
Term
What happens when chromosomes are replicated?
Definition
A process of duplication a chromosome which occurs prior to division. Produces sister chromatids which are held together at the centromere.
Term
What is the end product of mitosis?
Definition
Two identical daughter cells
Term
What four things ultimately happen in mitosis?
Definition
1) Replicated chromosomes align
2) Sister chromatids separate and move to opposite poles
3) Nuclear membranes form around each new nucleus
4) Division of cytoplasm or cytokinesis occurs.
Term
Proteins called "__________ ________" monitor progression through the cell cycle.
Definition
checkpoint proteins
Term
Interphase consists of how many phases and what are they?
Definition
G1 - proteins and lipids are produced
G2 - proteins and lipids are produced
S - DNA is replicated
Term
What are three important molecules which help to regulate the cell cycle and what do each of them do?
Definition
1) Cyclin - protein responsible for keeping "time" in the cell
2) Cyclin Dependent Kinases - enzyme that acts as an on/off switch for mitosis
3) M-Phase Promoting Factor - protein which starts the M phase.
Term
Telomeres are also referred to as ____.
Definition
caps
Term
Where are telomeres located? What do they contain?
Definition
At the ends of chromosomes. The contain hundres to thousands of six nucleotide repeats. Most cells lose 50-200 repeats after each cell division. After about 50 divisions, shortened telomeres signal the cell to stop dividing.
Term
what special enzyme prevents the shorteninig of telomeres? Also is said to make a cell line immortal which is sometimes found in cancer cells, sperm, eggs, and bone marrow.
Definition
Telomerase
Term
Which two types of cells renew tissues? What specifically do they do all of their lives?
Definition
1) Stem cells
2) Progenitor cells
They retain the ability to divide and specialize.
Term
What characterizes totipotent? Pluripotent?
Definition
Totipotent - Stem cell that can become anything - ES (embryonic stem cell)
Pluripotent - have a potency but not completely potent. This is all that adults have anymore.
Term
What is the end result of meiosis?
Definition
specialized cells that will eventually develop to form gametes.
Term
Meiosis has ___ divisions of the nuclues and produces cells with ____ the number of chromosomes (_______)
Definition
two, half, haploid
Term
What is ploidy referring to? What is haploid? What is diploid?
Definition
Ploidy is referring to the number of cells.
Haploid - 1N
Diploid - 2N
N refers to the chromosome number
Term
Genetically, what does meiosis intodoce that mitosis does not?
Definition
Meiosis introduces variation. A gene shuffle and the shuffling of chromosomes.
Term
How many chromosome pairs do we have?
Definition
23
Term
What are gametes?
Definition
Sex cells
For males = sperm
For females = ovum or oocyte
Term
What are homologous chromosomes? When do they pair? What do they form?
Definition
Having the same genes in the same order but may carry different alleles, or forms, of the same gene.
They pair during meiosis I and separate in the formation of gametes
Oone copy of each pair is from the mother and ones is from the father.
Term
_______ and ______ ____________ increase genetic diversity in a population.
Definition
Meiosis and sexual reproduction
Term
List 7 things that characterize Mitosis:
Definition
1) one division
2) Two daughter cells per cycle
3) Daughter cells genetically identical
4) Chromosome number of daughter cells same as the of parent cell (2N)
5) Occurs in somatic cells
6) Occurs throughout life cycle
7) Use for growth, repair, and asexual reproduction
Term
List 7 things which characterize Meiosis:
Definition
1) Two divisions
2) Four daughter cells per cycle
3) Daughter cells genetically different
4) Chromosome number of daughter cells half that of parent cell (1N)
5) Occurs in germline cells
6) In humans, completes after sexual maturity
7) Use for sexual reproduction, producing new gene combinations
Term
Meiosis divides in ___ parts but results in ___ copy of each chromomsome in a gamete.
Definition
two, one
Term
What is the synaptonemal complex?
Definition
Makes sure that the two pairs of chromosomes line up (synapsis)
Term
Is meiosis I haploid or diploid? What is meiosis II?
Definition
Meiosis I = diploid
Meiosis II = haploid
Term
When does crossing over or recombination occur? What does crossing over mean?
Definition
Prophase of meiosis I. Crossing over is where Non-sister chromatids of homologous chromosomes (homologs) exchange genes which generates diversity.
Term
Parentals are considered to be ___-___________ while nonparentals are considered to be ____________.
Definition
non-recombinant, recombinant
Term
What happens during Metaphase I of meiosis I?
Definition
Homolog pairs align along the equator of the cell.
Term
What is independent assortment?
Definition
Where the homolog of one chromosome can be inherited with either homolog of a second chromosome.
Term
Anaphase I of meiosis I?
Definition
Homologs separate and move to opposite poles. Sister chromatids remain attached at their centromeres.
Term
Telophase I of meiosis I?
Definition
1)Nuclear membrane reforms
2)Spindle disapperas
3)Cytokinesis divides cell!
Term
After meiosis I is complete, what comes next? One more time, what is the end result?
Definition
Meiosis II. The end result is four nonidentical haploid daughter cells. Each contains one copy of each chromosome and one allele of each gene which makes each cell unique.
Term
What is the process of spermatogenesis? Mitosis? Meiosis? or Both?
Definition
Stem cells in the testes divide mitotically to produce spermatocytes. Then spermatocytes divide by meiosis to produce four equal sized haploid spermatids which mature into four sperm.
Term
Sperm contain what two vital things?
Definition
1) Mitochondria
2) DNA
Term
Explain the process of Oogenesis or ovum formation:
Definition
1)Cells of the ovary divide to form oocytes
2)Oocytes divide by meiosis
3)Unequal cytoplasmic division
4)A discontinuous process. At birth, oocytes are arrested in prophase I. At ovulation, an oocyte continues to metaphase II.
5)The four meiotic products produce a functional ovum and three polar bodies.
Term
In oogenesis, what is the end product during ovulation?
Definition
3 polar bodies and 1 functional gamete (ovum)
Term
When does the ovum complete meiosis II?
Definition
After fertilization..YAA SEXY TIME!
Term
What does the sperm contribute to the egg when fertilization occurs?
Definition
The sperm just contriburtes DNA while the egg does the rest. If the mitochondria from the sperm does happen to get inside the ovum, the ovum destroys it.
Term
What is cleavage? What are the cells called and what does the developing embryo become?
Definition
frequent cell division after fertilization. The cells are called blastomeres. The developing embryo becomes a blastocyst which is a hollow ball of cells.
Term
What is signal transduction?
Definition
Process by which cells communicate
Term
The inner cell mass or the blastocyst develops into what? What do the other cells do?
Definition
the embryo. The other cells become the extraembryonic membranes important for implantation and support of embryonic growth.
Term
What is grastrulation?
Definition
When the primary germ layers forms, cells begin to differentiate, and supporting structures form:
-Chorionic villi
-Yolk sac
-Allantois
-By 10 weeks the placenta is fully formed
Term
What are the three germ layers and what are each in charge of?
Definition
1) Endoderm - forms most internal organs
2) Mesoderm - muscles and connective tissue
3) Ectoderm - skin, and adrenal glands
Term
What characterizes a dizygotic twin? Monozygotic twin?
Definition
Dizygotic Twin - Form from two different zygotes. Two ova are fertilized and there is the same genetic relationship as any siblings.
Monozygotic twins - One ova is fertilized. Developing embryo splits during early development. The twins are genetically identical.
Term
What is the critical period characterized by?
Definition
During the critical period of development, an organ is vulnerable to toxins, viruses, and genetic abnormalities. Altering the normal development may cause birth defects.
Term
Mendel expeirenced in _____ breeding and ___________.
Definition
plant, mathematics.
Term
Mendel studied what specific plant?
Definition
pea plants
Term
What were the 7 traits which mendel studied in pea plants?
Definition
1) seed form
2) seed color
3) pod form
4) pod color
5) flower position
6) seed coat color
7) stem length
Term
What is a monohybrid cross?
Definition
When true breeding plants with two forms of a trait are crossed but only one form of the trait shows up. The observed trait is dominant while the masked (hidden) trait is recessive.
Term
The F1 generation of a monohybrid cross tells what? What does the F2 generation tell?
Definition
F1 Generation - dominance/recessive
F2 Generation - tells whether haploid or diploid
Term
What is an allele?
Definition
A version of the same gene or DNA sequence but differs in DNA sequence at one or more sites.
Term
Explain Mendel's Law of Segregation:
Definition
Each plant possesses two units (alleles for each trait. Alleles separate in the formaiton of gametes and gametes contain one allele for each trait.
Term
What is genotype? What is phenotype? What is wild type? What is mutant phenotype?
Definition
Genotype - The alleles present in an individual - 1) Homozygous - carry the same alleles (TT or tt) 2) Heterozygous - carry different alleles (Tt).
Phenotype - Indicates the trait observed (Tall or short).
Wild Type - Most common phenotype.
Mutant phenotype - a product of a change in the DNA.
Term
What is autosomal inheritance?
Definition
Human autosomal traits which are located on the non sex chromosomes (1-22). They may be inherited as autosomal dominant or autosomal recessive.
Term
What is the meaning of dominance and recessive?
Definition
Whether an allele is dominant or recessive is important in determing risk and critical in medical genetics. Reflects the characterisitcs or abundance of a protein.
Recessive tratis have a "loss of function"
Dominant traits have a "gain of function".
Term
What is an autosomal dominant disorder that we talked about in class?
Definition
Huntington's Disease - neurodegenerative.
Term
Autosomal recessive affects who?
Definition
Only homozygous recessive individuals exhibit the affected phenotype. It may skip generations.
Term
Autosomal dominant only affects who?
Definition
Homozygous dominant and heterozygotes. Affected phenotype does not skip generations.
Term
What is a homozygous recessive disease that we talked about in class?
Definition
Cystic Fibrosis. The CTFR gene transports Cl- ions back and forth across membranes to establish water gradients. There is a deffect in this gene which makes less water on one side of the membrane. This can cause organ failure.
Term
How are lethal alleles maintained in a population?
Definition
Recessive traits are maintained in a population in the heterozygotes (Tt). The recessive hides in the population!
Term
What is the main point of mendel's second law of independent assortment?
Definition
The inheritance of one gene does not influence the chance of inheriting the other! Two genes on different chromomsomes segregate their alleles independently. Its random!
Term
The probability of simultaneous independent events is equal to what?
Definition
The product of the probability of each event.
Term
The probability of dependent events is equal to what?
Definition
The sum of probability of each event
Term
What is an important cycle which ends with the production of proteins?
Definition
DNA (genotype) -> mRNA -> Protein (phenotype)
Term
What is multiple alleles? What is an example in humans?
Definition
When an individual carries two alleles for each gene. A population can have many alleles within the individual members.
An example in humans is the ABO blood group
Term
What is incomplete dominance?
Definition
When the heterozygous phenotype is distnicn from either homozygous phenotype. It may be an intermediate phenotype. Resembles blending. Intermediate of two phenotypes!!!
Term
What are codominant alleles?
Definition
When both alleles are expressed in the heterozygotes. For blood tyeps, the A and B alleles are codominant.
Term
What are the four blood GROUPS?
Definition
1) ABO blood group
2) Rh factor
3) MNS blood group
4) Lewis (Le)
Term
What is epistasis?
Definition
When one gene affects the expression of a second gene.
Term
What is Variable Expressivity?
Definition
When a phenotype that varies in intensity. Individuals with the same genotype for cystic fibrosis have varying levels of symptoms.
Term
What is incomplete penetrance?
Definition
When the phenotype is not always observed among individuals carrying the genotype.
Term
What is poly dactely?
Definition
Extra digits on the hands or feet.
Term
What is pleiotropy?
Definition
When one gene has many symptoms or controls several functions.
Term
What is phenocopy?
Definition
Appears inherited but is caused by the environment. May have symptoms that resemble an inherited trait or occur within families.
Term
Lastly, what is genetic heterogeneity?
Definition
Where different genes can produce identical phenotypes. Genes may encode for different enzymes in a biochemical pathway.
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