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188 Cards in this Set

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heredity and variation biology- study of cells individuals offsprings and populations
Genetics
what did Aristotle believe about genetics
the male semen was formed by blood
this was Hippocrates understanding of genetics-
little tiny adults were in every sperm
who wrote the 'origin of spcies' a theory of natural selection-
Darwin
this man developed the theory involving hereditary factors in the germ cells to explain statistical patterns of inheritance-
Mendel
__________ is fundamental to the comprehension of life, its the core for understanding many other biological disciplines
genetics
improvement of humans by selective breeding
Eugenics
this type of practice was inherent until the 1940's that involved involuntary sterilization programs in the US to sterilize the 'genetically inferior'
Eugenics
experimental approaches which extends knowledge of any discipline of science
basic science
investigations to solve specific problems or improve well bieng w/i our society
applied science
medical or genetic intervention designated to reduce the impact of defective genotypes on individuals
Euphenics
this is an example of euphenics
insulin use
what is applied genetics impact on plants?
enhanced growth, resistance to pests, superior traits, increased nutrient value in GM plants
what is the applied genetics impact on animal populations?
fast growth, larger animals
what is the the applied genetics impact on medicine?
genetic basis for disease, molecular understanding, treatments
______ million Americans suffer from some form of a genetic affliliation
10 million
____ of Americans are at risk of having a child with a genetic anomaly
3%
type of genetics in which the patterns of inheritance are examined
transmission genetics
2 subdivisions of transmission genetics
1) Mendelian inheritance 2)Polygenic Inheritance
type of analysis in which patterns of inheritance are traced among generations
human pedigree analysis
type of analysis involving human characteristics
Phenotype analysis
type of genetic analysis involving human genome, and alleles
Genotype analysis
the study of chromosomes
Cytogenetics
Genetic analysis involving molecular studies, recombinant DNA technology, genomics and proteomics-
Molecular Genetic Analysis
genetics involving how and why genetic variation is maintained in a population-
population genetics
type of genetics involving genotypes and selective pressure, adaptations to envioronmental pressure-
Evolutionary process
In humans the ______ (2n) number of chromosomes is _____
diploid, 46
how many of the human chromosomes are maternally and paternally derived autosomes
22 maternally and 22 paternally
how many of the human chromosomes are sex chromosomes
2
what are the 2 possible sex chromosomes-
XX-female XY-male
What type of cells in the human body contain a haploid (n) number of chromosomes?
Gametes (sperm and oocytes)
______________ are composed of double stranded DNA and proteins
chromosomes
__________ are segregrated when a cell divides (mitosis)
chrom's
_____ and _____ have 1 long circular chromosome
bacteria and viruses
how many chromosomes do Humans have?
23
how many sex chromosomes do humans have
1
how many autosomal chromosomes do humans have?
22
what is the haploid number (n) of human chromosomes
23
what is the diploid (2n) number of human chromosomes?
46
single set of unpaired chrom's, gametic # of chrom's
haploid
2 sets of each chrom
diploid
plants can be ______-more than 2 sets of chrom's
polyploid
functional unit of heredity residing at a specific point along a chromosome. A DNA sequence coding for a polypeptide, info storage unit capable of undergoing replication, expression, and mutation
genes
humans have over ________ genes in our genome
30,000
this is the trinity of molecular genetics-
DNA>RNA>protein
the location of a few genes- whose mutant form cause ______
hereditary disease
define mitosis-
leads to the production of 2 cells, each w/ the same # of chrom's as the parental cell, and the identical genetic content
define meiosis
the production of sex cells (gametes or spores) essential in the transmission of genetic material to offspring
a major component of chromosomes is _____
DNA
structure of the animal cell that houses genetic material, DNA
nucleus
structure of Animal cell thats w/i the nucleus, where ribosomal RNA is synthesized and where initial ribosome assemble occurs
nucleosome
structure of the animal cell involved w/ the organization of spindle fibers, which function during mitosis and meiosis
centrioles
centrioles are involved with the organization of __________-which function during both mitosis and meiosis
spindle fibers
mechanism by which genetic info stored as DNA is expressed to produce an observable phenotype
gene expression
concept that information flow progresses from DNA to RNA to proteins
central dogma
list 3 types of different protein classes in an organism-
1)enzymes
2)structural proteins
3)signaling proteins
chromosomes contain _____, which make up the genetic matrial which is inherited-
genes
t/f proteins are the genetic material responsible for inheritance-
F, nucleic acids
t/f many scientists thought it was protein that was responsible for inheritance b/c proteins were so abundant in cells
T
________ must be precisely transmitted from one generation to the next and from organisms to their descendants
genetic material (DNA)
define mitosis=
leads to the production of 2 cells, each w/ the same number of chrom's as the parental cell and the identical genetic content
define meiosis=
production of sex cells (gametes or spores), essential in the transmission of genetic material to offspring
sum of phases of growth of an individual cell type; divided into G1, S, G2, and mitosis
cell cycle
nondividing cells are said to be in the _______ phase
G0, quiscent, stationary
the dividing stage of the cell cycle-
mitosis
the nondividing stages of the cell cycle-
interphase, G1, S, and G2 stages
cells alternate b/t _____ and ________ states in the cell cycle
dividing and nondividing
a surveillance system to ensure cell is 'ready' for further progression in the cell cycle
cell cycle checkpoints
studying the cell cycle checkpoints helps us understand this disease
cancer
what 3 scientist won the nobel prize 2001 for cell cycle checkpts-
1)Hartwell
2)Hunt
3)Nurse
what are the 5 stages of mitosis
1)prophase
2)prometaphase
3)metaphase
4)anaphase
5)telophase
what 2 fungi have greatly contributed to our understanding of the cell cycle-
1) Saccharomyces cerevesiea- budding yest
2) Schizosaccharomyces pombe- fission yeast
t/f one may be able to learn about cell division regulation by looking for genetic mutants-
T
stage of the cell cycle in which the chroms are NOT condensed
interphase
what are the 3 subdivisions of interphase
1)G1
2)S
3)G2
these 2 divisions of interphase are responsible for cell growth, differentiation, and check for DNA damage
G1, and G2
this stage of interphase is responsible for DNA synthesis
S phase
this is the stage of the cell cycle involved in cell division
mitosis
these are the subdivisions of mitosis-
1)prophase
2)prometaphase
3)metaphase
4)anaphase
5)telophase
6)cytokinesis
stage of the cell cycle involving the w/drawal from the cell cycle, many cells are in this state, known as the quiscent or stationary phase
G0
stage of cell cycle in which chromosomes are not condensed, G1, S phase when DNA is synthesized and G2 phases
interphase
phase of mitosis in which chromsomes condense, centriole migration, and spindle fiber formation occur
prophase
phase of mitosis in which the nuclear envelop begins to break down, spindl fibers are able to attache and move chrom's to equatorial plate, migration of chrom's led by centromeric region
prometaphase
phase of mitosis in which chrom's are located at the equatorial plane, middle region of the cell, attached to the spindle via their kinetochores
metaphase
phase of mitosis in which chromosome segregation, sister chromatids seperate, move toward poles
anaphase
phase of mitosis where chrom's begin to decondense to form new nuclei, nuclear membrane reforms
telophase
stage of mitosis in which cytoplasm is divided; cell divides, forming 2 daughter cells
cytokinesis
t/f cytokinesis can actually begin during anaphase
T
in diploid org's chromosomes exist as ____________
homologous pairs
in ____________ 2 homologous pairs of chromosomes from each parent are present
prometaphase
how long is the G1 phase of cell cycle-
5 hours
how long is Synthesis of the cell cycle
7 hours
how long is G2 phase of cell cycle?
3 hours
how long is mitosis?
1 hour
how long is prophase?
36 min.
how long does metaphase last?
3 minutes
how long does anaphase last?
3 minutes
how long does telophse last?
18 minutes
______ is highly compacted (condensed) only during certain stages of the cell cycle
DNA
when DNA is highly compacted it associates with proteins called _______
histones
describe the familiar chromosome structure
compacted DNA and histones- chroms are often depicted as a 'metaphase chrom' but it is really very dynamic
how do chromosomes migrate?
its an activation of a series of protein assembly events that requires energy
chromosomes contain a condensed region called the _______ where sister chromatids attach
centromere
this term is used to describe a metaphase chromosome in which the centromere is located in the middle of the chromosome
metacentric
centromere location of the metaphase chrom in which the centromere is b/t the middle and the end-
submetacentric
centromere location of the metaphase chrom's in which the centromere is close to the end-
acrocentric
centromere location of the metaphase chrom in which the centromere is at the end
telocentric
this term is used to describe centromeres of the metaphase chrom in which the centromeres are alonge the length of the chrom-
holocentric
organisms can be either ________(1 distinct centromeric region) or ________(centromeres are along the length of the chrom)
monocentric, holocentric
describe meiosis
1)process of gametogenesis
2)production of gametes or spores w/ only haploid set of chrom's
3)reduces the amnt of genetic material by 1/2
4)oogenisis or spermatogenesis during which one replication of the chrom's is followed by 2 nuclear divisions, to produce 4 haploid cells
describe fertilization-
gametes combine to reconstitute the diploid complement found in parental cells
_______ ensures genetic continuity from generation to generation-
meiosis
_________ ensures genetic variation among memebers of the same species
sexual reproduction
process of gametogenesis-
meiosis
process in which gametes combine to reconstitute the diploid complement found in parental cells
fertilization
what are the 5 stages of the 1st meiotic division: prophase I
1)leptonema
2)zygonema
3)pachynema
4)diplonema
5)diakinesis
t/f DNA was already replicated in the prior interphase, preceding prophase I (or the 1st meiotic division)
T
this is also referred to as the first meiotic division
prophase I
stage of prophase I where chromatin begins to condense, localized condensation occurs along the chrom's
leptonema stage
stage of prophase I in whcih the homologous chrom's begin to align w/ one another
zygonema
stage of prophase I where synapsis occurs-and each homolog is evident as a dbl structure, providing the 1st visual evidence of earlier replication of DNA
pachynema
the intimate pairing of homologs
synapsis
this is the stage of prophase one in which the 1st visual evidence of earlier DNA replication is clear
pachynema
stage of prophase I where chromatids are intertwined, producting an area called a chiasma
diplonema
pt where non sister chromatids have undergone genetic exchange thru process of cross over-
chiasma
__________ is an important source of genetic variability
cross over
stage of prophase I in which chromatids pull apart, nuclear membrane breaks down, and centromeres of each tetrad attach to spindle fibers
diakinesis
synapsed homologous chromosomes-
bivalents
t/f alignment of each tetrad prior to the 1st anaphase is random
T
alignment of each tetrad prior to the 1st anaphase in meiosis is ______
random
process in which 1/2 of each tetrad (diad) is pulled to one of the poles, at random.
disjunction
the exchange due to crossover during prophase 1 resulted in ______ chromatids w/ DNA from paternal and maternal origins
mosaic
nuclear membrane reforms during ________ of meiosis 1, this may be followed by a short interphase where NO DNA replication occurs-
telophase I
stage of meiosis in which each diad is composed of 1 pair of sister chromatids, attached by centromere
prophase II
stage of meiosis in which the diads are repositioned at equitorial plate
metaphase II
stage of meiosis in which division of diads occurs and sister chromatids of each diad are pulled to opposite poles
anaphase II
stage of meiosis where each pr of homologous chromosomes are present at each pole, and these are referred to as monads-
telophase II
following cytokinesis of meiosis 4 _______ gametes are produce. each gamete received a mixture of genetic information
haploid
t/f after cytokinesis occurs in meiosis each gamete received a mixture of genetic info
T
process of the production of sperm
spermatogensis
t/f all cells receive an = amnt of genetic material and cytoplasm in spermatogenesis
T
spermatogensis may take place in mature mammalian males ________ or _______
continuously or periodically
animals that mate year round produce sperm ________
continuously
animals that have a breeding season produce sperm ______
periodically
this is the formation of the ova occuring in the ovaries
oogenesis
in oogenesis cells receive = amounts of genetic material but NOT receive = amounts of ________
cytoplasm
in human oogenesis the 1st division begins in the embryonic ovary and cells arrest in ______
prophase I
when is the 2nd division of oogenesis completed?
after fertilization
years later the meiosis resumes in each _______ just prior to ovulation
oocyte
distinctive organelles found in germ cells of many species, such as C. elegans, termed 'instructions of germline development ever since their dramatic segregation to the germline was 1st observed
germ granules
t/f the cells taht develop into gonads in the nematodes will produce sperm and oocytes
T
this geneticist studied inheritance using the garden pea
Gregor Mendel
t/f Mendels publications in 1866 were the foundation for genetic studies
T
Mendels research was ignored for ~35 years until the discovery of __________
chromosomes
who discovered the basis for transmission of hereditary traits
Mendel
what organism did Mendel study=
Garden pea plant
why was the garden pea plant a good organism to study
1)easy to cultivate
2)self fertilizing by nature
3)able to cross breed experimentally
4)distinct visible traits
5)reproduces well and grows maturity in a single season
this is the mating (genetic cross) of individuals from 2 parent strains, each which exhibit one of 2 contrasting traits; a genetic cross b/t 2 individuals involving only one character
monohybrid cross
this generation includes the orifinal parents
P1
these are the resultind individuals from crossing
F1 (first filial generation)
traits can appear as either ______ or ________
dominant or recessive
the prominent ratio in the F2 generation
3:1
t/f for each of Mendels crosses the patterns of inheritance were similar regardless of which plant served as the sperm or ovum
TRUE
to explain the monohybrid cross results Mendel proposed the existence of what he called a __________
unit factor
what did Mendel mean by a unit factor-
he though these were the basic units of heredity, passed on from generation to generation, and determinants of traits in each plant
using the results of the ___________ cross Mendel derived 4 postulates
monohybrid
in the monohybrid cross, b/c the factors occur in pairs ___ combinations are possible
3
the trait expressed in the F1 generation is a result of the ______ unit factor
dominant
the trait that reappears in the F2 generation is a result of the _______ unit factor
recessive
what are the 2 kinds of nucleic acids?
DNA and RNA
_______ are the building blocks of nucleic acids, consisting of a nitrogenous base, pentose sugar and phosphate grp
nucleotides
what are the 2 kinds of nitrogenous bases?
purines/pyramidines
the 2 kinds of purines
A and G
the 3 kinds of pyrimidines
C,T, and U
what nitrogenous base does RNA have that DNA doesn't
Uracil, DNA has Thymine instead
_____ is the pentose sugar in DNA
deoxyribose
_____ is the pentose sugar in RNA
ribose
purine or pyrimidine covalently linked to a ribose or deoxyribose
nucleoside
a nucleoside covalently linked to a phosphate group, described by how many phosphate groups are attached
nucleotide
a nucleotide that is attached to 2 phosphates would be called a
nucleoside diphosphate (NDP)
a nucleotide attached to 3 phosphates-
nucleoside triphosphate (NTP)
linkage b/t mononucleotides consists of a phosphate group thats linked to 2 sugars which forms a _______ bond
phosphodiester
each DNA structure has a ____ end and a ____ end
C-5' and C-3'
this is 2 nucleotides joined together
dinucleotide
3 nucleotides joined together
trinucleotide
> 20 nucleotides joined together is known as a
oligonucleotide
many nucleotides joined together
polynucleotide
t/f the structure of DNA is key to its function
TRUE