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Genetics Exam 1


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segment of DNA codes for production of a protein
variant of a gene
Sickle Cell Anemia
caused by a mutated gene codes for a component of hemoglobin
deoxyribonucleic acid; ATGC double stranded deoxyribose sugar (found in nucleus and mitochondria)
intermediary between genes & proteins AUGC single stranded ribose sugar
DNA & RNA contain info for building......
long strand of DNA & proteins each chromosome contains many genes humans have 46 in all cells except sex cells 23 each from mom & dad
all genes in cells of a particular type of organism 30,000 genes in human genome
alleles an organism contains
how the alleles are expressed
displays chromosome pairs (except sex) in size order
Mendelian traits
gregor mendel single gene causes specific disease
examples of mendelian traits
sickel cell cystic fibrosis hemophilia
Most traits are.....
non mendelian
Types of Multifactorial traits
height diet exposure to chemicals stress illness hair color breast cancer diabetes
Multifactorial traits
caused by one or more genes & the environment wide range of phenotypes
Breast Cancer
environment plays important role genetic factors: BRCA 1 & 2
Reduce breast cancer risk by:
having a low fat & fiber diet & excercise
Absolute risk
probability that an indiviudal will develop a particular condition
Relative risk
probability that an individual will develop a condition relative to another population (>1 means greater probability than population)
Risk factor
threatening situation
genes from 1 species put into another ex) tomato w/ fish genes
over a million different species
proteins carbs lipids nucleic acids
Structure=function enzymes that speed up reactions provide stuctural support control gene expression (turn genes on & off) very structurally diverse & specific shape 100,000+
Proteins that "go bad" rogue proteins diseases caused by proteins with a bad structure can turn other proteins into prions
examples of prions
mad cow disease chronic wasting disease
Sugars provide energy for cell metabolism provide structural support provide cell identity allows immune system to recognize invadors
Simple carbs
individual glucose library
Complex carbs
chains of glucose ex) starch used for energy like in a potatoe
structural carbs
long chain of glucose molecules with a different bond ex) cellulose that cant be broken down & digested (fiber)
fats provide energy (way more than carbs or proteins) main component of cell membranes
Lipid hormone examples
estrogen, progestin, testosterone
Nucleic acids
the genetic material energy source (ATP)
where DNA is housed has pores all over the surface allows RNA outside the nucleus gives directions to ribosomes movement in & out occurs through pores
When MRNA leaves the nucleus it travels....
to the Endoplasmic Reticulum
Endoplasmic Reticulum
bound ribosomes make proteins that export them out of cell
Rough ER
site of protein synthesis for export out of cell
Smoothe ER
detoxify toxins
What part of the body has a lot of smoothe ER?
the liver
If you get in an accident and take pain meds, (blank) will be in the liver
smoothe ER
Golgi Apparatus
identifies the protein received from the rough ER & ships it
contain digestive enzymes that breakdown cellular material & worn out organelles
make bile for fat digestion in fireflies, peroxisomes help them "light up"
transformation of food energy to ATP energy DNA is maternally inherited muscles, stomach, & brain have a lot of mitochondria
maintains cell shape & structure helps move substances around cell (traintracks) involved in division of cells
uncontrolled cell division dividing cells use cytoskeleton to move chromosomes apart if cytoskeleton is disrupted, cell cannot divide weakened cytosplasm lets cells not divide as rapidly but also prevents normal non cancerous cells from dividing
Cell Membrane
made of phospholipids and proteins proteins provide ion channels to pass through controls movement of substances in & out of cell keeps inside in & outside, but allows certain molecules to pass through
ions must pass through (blank) to get through the cell membrane
channel proteins
HPP & abnormal Na+ channels
(genetic disease from faulty ion channels) disrupt muscle function & may lead to paralysis
chromosomes are not lined up
line up in middle
physically pull apart (centromere breaks) two chromatids separate
Chromosomes relax & not visible 2 identical cells
PPMAT cell division for growth, repair cloning 1 (2n) diploid cell ---> 2 (2n) diploid cells (cloning)
cell division for sexual reproduction occurs in eggs & testes creates genetic variation meiosis is cell division for sexual reproduction diploid cell (2n) ---> 4 haploid cells (1n) generates diversity each daughter cell
tips of chromosomes are degraded w/ each mitosis
If telomere doesnt degrade, what will happen?
the cell will keep replicating (type of cancer)
programmed cell death
Meiosis 1
like 2 rounds of mitosis 2n-->1n occurs reduces ploidy leven & separates homologous chromosomes reduction division
Homologous chromosomes
humans have 23 sets chromosomes with the same size, shape, & linear arrangement of genes may have different alleles
Sister Chromatids
genetically identical
Prophase 1
Synapsis occurs crossing over may occur chromosomes condense P1 is how a cell keeps track of homologous chromosomes
homologues physically connect occurs in P1 unique to meiosis
Crossing over
produces genetic diversity occurs between non-sister chromatids recombines genetic info sister chromosomes & centromeres remain intact anaphase separates the homologous chromosomes
Independent assortment
non-homologous chromosomes separate during meiosis (m1)
When does independent assortment occur?
metaphase 1
When a cell with 4 chromosome pairs goes through meiosis, how many chromosome arrangements are possible?
2^n 2^4 = 16
When do gametes mature into sperm & eggs?
after meiosis
process of creating sperm
(2n) precursor to sperm cells
Primary spermatocyte
(2n) meiosis1 occurs secondary spermatocyte is produced
Secondary spermatocyte
(1n) meiosis 2 takes place spermatid forms
formed from 2ndary spermatocyte (1n) haploid
Mitosis clones
Meiosis reduces
What are sperm made of
nucleus mitochondria acrosome which is a digestive enzyme to enter egg
process of creating an egg
2n precursor to egg cells
Primary oocyte
2n undergoes meiosis 1 secondary oocyte & polar body are formed
Secondary oocyte
1n undergoes meiosis 2 ovum & polar body are formed
Ovum & polar body
1n formed from secondary oocyte
Sperm turns diploid egg into
a haploid zygote
Fertilization, then (blank), then (blank)
fertilization then meiosis then mitosis
egg secretes an attractant
secretes digestive enzymes
2 nuclei fuse to form (blank)?
a zygote
A zygote divides by (blank)?
very 1st mitotic divisions
Stem cells
totipotent cells; cells that can develop into any type of cell
Blastomere -->
morula (16 cels)
Morula went through how many mitotic division?
2^4 4 divisions
hollow sphere of cells
Stage of stem cells & controversy
blastocyst stage
blastocyst travels into uterus & is implanted
Human chorionic gonadotroph (HCG)
secreted by the embryo to prevent menstration detected by pregnancy tests mother does not produce hCG
end of week 2 3 layered structure composed of tissues
end of week 2 outside skin & nervous tissue
end of week 2 middle muscle, connective tissue reproductive organs
Inside lining of organs, liver, pancreas
End of week 2
gastrula ectoderm mesoderm endoderm
Chorionic Villi
fingerlike structure that connect embryo to mom week 3 of development
Week 10 of development
fully developed fetus demands too much energy mom "kicks baby out"
secretes hormones & moves nutrients to fetus
Dizygotic twins
fraternal 2 sperm fertilize 2 eggs 50% of same genes ex) mel & maron
2 sperm fertilize 2 eggs
identical 1 sperm fertilizes 1 egg egg splits in half at stage 2 clones genetically identical
Birth defects
often cause by something in environment
chemicals or other agents that cause birth defects
Critical period
time when a teratogen has an effect
drug prescribed for morning sickness in the 50s & 60s disrupted limb development taught us womb is vulnerable
Fetal alcohol syndrome
leading known cause of mental retardation & birth defects
Mendelian Genetics
determined by a single gene
Conclusions after mendels experiments?
2 genes for each character (1 maternal, 1 paternal) 2 different alleles (1 dominant, 1 recessive
Law of segregation
determines the type of gametes made alleles for a character segregate into different GAMETES for each chromosome you only get one copy on the gamete
Autosomal dominant
only need 1 copy to express itself found on non-sex chromosomes humans have 22 pairs of autosomes
Autosomal dominant examples
Huntingtons disease lactose intolerance polydactyly
Autosomal recessive
must have 2 copies of allele to express the trait
Examples of autosomal recessive
cystic fibrosis sickle cell disease pheylketonuria
Dihybrid cross
genetic cross in which 2 traits are tracked
How many chromosomes are there in a human cell?
X linked genes are found on...
x chromosomes
males XY make 2 different types of gametes
One gene affects the expression of another gene
one gene affects the expression of another gene
Which chromosome has a lot of genes?
SRY gene
testes specific transcription factor codes for the transcription factor
transcription factor
protein that turns on other genes
If SRY gene is missing or nonfunctional
female development occurs XXY males XY females
Males are (blank) for x linked genes
X-liked recessive
expressed in females only when homozygous mothers give to sons & daughters fathers give to daughters only females have to get both from mom & dad to express it
X-liked recessive examples
hemophilia red/green colorbindness
Hemophilia A
recessive X-linked blood clotting disorder Affected people lack a clotting protein (factor VIII) More common in males
Red-green colorblindness
most common type recessive x linked more common in males
X linked dominant
rare can be lethal in males females only need one copy to express it
occurs in female mammals one X chromosome condenses & becomes inactive
Barr body
part of x inactivation

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