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Glossary of Genetics Midterm 1

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Created by brianna2webb

genetics
the study of heredity

genetic code
the sequence of nucleotides that encodes the info for amino acids in a polypeptide chain
Who is the founder of genetics
mendel
trait
any observable property of an organism
gene therapy
process iw normal genes are transplanted into humans carrying defective copies as a means of treating genetic diseases
eugenics
the attempt to improve the human species by selective breeding. Occurred from 1905 to 1933
hereditarianism
the idea that human traits are determined soley by genetic inheritance, ignoring the contribution of the environment
restriction enzymes
a bacterial enzyme that cuts DNA at specfic sites, which can lead to a predictable pattern of fragmts
genome
the set of genetic info carried in the DNA of an indiv
genomics
the study of the organization, function, and evolution of genomes
The human genome project aims to create an
ax and dx and tx plan of human genetic diseases, which has led to certain testing being conducted immediately after a child birth
In 1998, Iceland passed a bill that allowed deCODE to create a Health Sector Data Base. What has this resulted in
deCODE scientists have identified 30 plus genes involved in certain diseases
The first gene database was in Iceland. Why was Iceland a good population for this project?
Small, genetically isolated, homogenous
Genetics determines..., examines..., and has...
determines how traits and diseases are passed from generation to generation

examines the molecs that comprise genes and how genes are regulated

has many specified fields



Genes control... and link...
cell function and link generations together
Gregor Mendel was the first.. and the founder of...
geneticist

classical genetics aka mendelian genetics

what are the four spheres of modern genetics
transmission
cytogenetics
molecular
population


studies the mechanisms by which traits are passed from parents to offspring
transmission genetics
studies the organization and arrangement of genes and chromosomes via microscopy
cytogenetics
studies genetic events at the biochemical level
molecular genetics
studies the distribution and variation of genes in populations
population genetics
transmission geneticists use what to study how traits are passed? use what to determine genetic inheritance for humans? and has the goal of what?
experimental organisms

pedigree analysis, which utilizes detailed family histories to reconstruct the pattern followed by a trait over generations

goal is to assess risk for future generations



cytogenetics studies what using what structure, observes what, and is currently used for what
studies chromosome number and structure using karyotyping to visualize/analyze chromos

observe chromo bx placed genes on chromos

currently used to map genes, study chromo structure, and id abnormalities



What branch of genetics has had the greatest impact since the early 1980s? Why was this?
molecular genetics, dt the discovery of enzymes
molecular genetics

utilizes

clones... to give insight to...

transfer... between organisms to...





utilizes recombinant DNA technology to id, isolate, clone, and analyze genes (eg genetic engineering)

clones genes to give insight into how genes are organized and how they work

cloned genes can be transferred btwn organisms or species



population genetics

studies

defines

explains





studies inherited variationin population of indivs and forces that alter gene freqy

defines extent of genetic variation within pops

explains how migration, pop size, natural selection, catastrophic phenomena, etc affect variation



who proposed that natural selection be used to improve the human species
galton
how was eugenics scientifically flawed?
treated complex cxs as mendelian traits

poor survey and statistical techniques (eg IQ test)

did not consider effect of the environ



what is the sequence of events from division to division of cells known as
cell cycle
what are the three parts of the cell cycle
interphase, mitosis, cytokineses
g1
cytoplasmic components (rna, protein, other molecs) are constructed, which x2 cell size
s phase
duplicate copy of ea chromo, chromos form sister chromatids
g2 phase
by end of g2, cell is read to divide, mitochondria divides, precursors of spindle fibers synthesized
By end interphase, what has occurred for the cell chromos
the cell has already replicated its 46 chromos
chromos condense and become recognizable

near end, ea chromo consists of 2 longitudinal stands known as chromatids

nuc env begins to dissolve



prophase
metaphase
chromos with spindle fibers move to the equator of the cell
anaphase
centromeres divide, converting sister chromatids into one chromo, migrate to opposite ends of the cell
chromos reach opposite ends of the cell and begin to decondense, spindle fibers break down, new nuclear env formed
telophase
cytokinesis
cleavage furrow occurs at late anaphase or telophase; organelles distributed to the daughter cell
when does cell regulation occur
g1
cells have a limited number of
divisions
cells are dip/hap and the end of mitosis
diploid
meiosis
process of cell division during which one cycle of chromosomal replicationis followed by two successive cell divisions to produce four haploid cells
diploid 2n
condition in which each chromo is represented twice as a member of a homologous pair
haploid n
the condition in whcih ea chromo is represented once in an unpaired condition
prophase I
chromo condense, nuc membrane disappears, spindle becomes organized

members of chromo pair in prophase I called homologous chromos

metaphase I
members of homologous pairs line up at equator
anaphase I
members of each pair separate from each other and move toward opposite sides of the cell
at the end of meiosis in telophase I, two
haploid cells exist with their chromos in replicated states
prophase II unpaired chromos condense with
two sister chromatids joined by a centromere
metaphase II
23 unpaired chromos attach to spindle fibers at their centromeres
anaphase II
centromere of ea chromo divides for the first time, which results in 46 chromatids form and move to opposite ends of the cell
telophase II
chromos uncoil, nuc membrane forms and the process of meiosis is complete
how and when does meiosis produce new combos of genes in two ways
random assortment of maternal and paternal chromos, ea by crossing over, the exchange of chromosome segments between homologs (prophase I)

line up randomly at metaphase plate (metaphase I), which results in a new combo because offspring likely to receive a combo of other and father genes, not their entire set





cancer is a disease of the
cell cycle, as tumors are made up of runaway cells, where checkpts do not occur
dna plus histone proteins equals
chromatin
chromatin condenses to form
chromosomes
germline cells are those involved in
reproduction, that give rise to gametes
all non-sex chromos are known as
autosomes
not all cells
cycle; some arrest in g1 or permanently arrest in g0
centrioles
where spindle fibers attach to sister chromatids
a fertilized egg is
diploid, and can develop properly
meiosis occurs in the... when
testes or ovaries of an adult

right before fertilization

random assortment
maternal and paternal chromos are lined up indiscriminately along the metaphase I plate, not all maternal on one side and paternal on the other



homologous recombinations
the exchange of chromosome segments between homologues = crossover
important traits for exptl organisms
should have a number of different discrete traits that can be studied

plant should be self fertilizing and have a flower structure that minimizes accidental pollination

offspring should be fully fertile so a former crosses can be made

should produce many offspring quickly







principle of independent assormt
the random distribution of alles into gametes during meiosis
locus
the position occupied by a gene on an chromo
pedigree construction
use of family history to determine how a trait is inherited and estimates risk factors for family members
pedigree
a diagram listing the members and ancestral rxs in a family used in the study of human heredity
proband
first affected family member who seek medical attn for a genetic do
incomplete dominance
expression is intermediate to that of the parents
codominance
full phenotypic expression of both members of a gene pair in the heterozygous condition
epistasis
a form of gene interaxn iw one gene prevents or masks the expression of a 2nd gene
mendel tested all available varieties of peas for two years to ensure that he had
true breeding plants
lines that gie rise to the same traits in all offspring, generation after generation
true breeding plants
f1 only shows one of the two traits, regardless of
which plant supplied the pollen
traits are inherited as
separate units, thus do not blend
pedigrees are used to determine
how a trait is inherited and which family members are affected

which family members are at risk of having affected children (eg preg outcomes

what percentage prone to adult onset dos



if a trait is autosomal recessive, the parents are usually
unaffected
some genetic disorders have
more than one pattern of inheritance, or can have only one pattern of inheritance, but can be caused by the mutation of one of several genes
in autosomal dominant disorders, every affected indiv should have
at least one affected parent
severity of phenotype in dominant disorders
homozyg often more severe than heterozyg
x
x

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