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32 Cards in this Set
- Front
- Back
marfans syndrome
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dominant 15
connective tissue is defective so organs/bones are affected heart problems, organ problems, bone problems abe lincoln might have had it |
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achondroplasia
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dominant 4
short limbs, scoliosis, heart problems, bone problems growth hormones for treatment but no actual cure |
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albinism
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recessive 11
pale skin, skin cancer, lack of pigment (colors your skin/eyes), eye problems eye surgery can help with vision |
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PKU
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recessive 12
northern europeans usually have it when you can't digest the amino acid PHE which you can only get through eating it--- so these people can't use the amino acid PHE at all the undigested PHE builds up in the blood stream and it's toxic seizures, tremors, skin problems |
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tay sachs
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recessive 15
french, canadians, jews, native americans, cajuns lipid buildup in the brain live to be less than 5 years old the lipid buildup in the brain squishes the brain so basically everything goes down blindness, deafness, seizures, unability to swallow |
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down syndrome
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sex linked on X chromosome
has no relation to heredity--- the baby has 3 chromosome 21's instead of 2 (called trisomy 21)--- so basically the baby has an extra chromosome that interferes with the other two--- lifespan is into 20's--- the older the mother is the more likely she is going to give birth to a down syndrome baby (b/c chance of the mutation is higher b/c of age) mental retardation, speech problems |
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turners syndrome
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only in female, sex linked,
has no relation to heredity--- the girl is missing an X chromosome you have 45 chromosomes instead of 46 infertility estrogen and hormone therapy can help |
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kleinfelter's syndrome
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only boys, sex linked, not inherited
has no relation to heredity the boy has an extra X chromosome (so he's XXY instead of XY) he has 47 chromosomes instead of 46 has girly features |
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CML
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mutation
chromosome 9 and 11 break off a bit of DNA and make a new chromosome called the philadelphia chromosome--- this causes the cancer radiation chemotherapy bone marrow transplant |
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progeria
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recessive 1
life span is into the teens babies and kids age really quickly-- premature aging--- they look old heart and artery disease-- brittle bones joint stiffness fatal and there is no treatment |
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cystic fibrosis
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recessive 7
pancreas problems (gets clogged with mucus) fat fingers life span--- into 20's bacteria infections trouble breathing b/c mucus gets built up in the lungs-- lung infections drainage of mucus in lungs can help |
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sickle cell anemia
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recessive 11
stroke blood problems life span- 30's affects africans mostly blood transfusions and bone marrow basically the blood cells are sickle shaped and get clogged very easily b/c of the shape |
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hungtington's disease
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dominant 4
uncontrollable movement speech therapy, meds needed affects europeans ** you die about 5 years after diagnosis b/c hungtingtons can only be caught late (around the 40's) affects the brain |
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hemophilia
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sex linked recessive
blood doesn't clot--- you can't stop bleeding easy bleeding and bruising clotting injections can help your blood clot |
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muscular dystrophy
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sex linked - x chromosome--- in boys
calf pain, scoliosis, frequent falling, wheelchair needed, fat builds up in the muscles in ppl with this disease you will need a wheelchair |
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what is incomplete dominance
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example ---
white flowers are WW red flowers are RR pink flowers are RW the only way you can get red or white is to have a homozygous combination-- if you are a heterozygous flower you are a completely different color, there isn't a trait that is dominant over the other |
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what is co dominance
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ex----
black chickens---BB white chickens---WW black AND white chickens--BW when the heterozygous version has both traits at the same time |
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what is a sex linked trait
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genes that are only located on the X chromosome only get passed down in the X chromosome
men are more likely to get a sex linked trait since they only need one allele to have it (since they are XY)-- females need two of the allele to have it (since they are XX) |
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what does true breeding mean and how can you figure out if something is true breeding
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true breeding means you are homozygous (two of the same allele)
if the thing shows a recessive trait (rr) you know for sure it is true breeding since you need two recessive alleles to have a recessive trait if the things shows a dominant trait it could either be Rr or RR-- to figure out if it is true breeding cross it with a rr --- if all the offspring come out to be dominant you know the parent was true breeding--- if some of the offspring come out to be recessive you know the parent was not true breeding |
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monohybrid
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crosses where you are only concentrating at one trait
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punnett square
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shows all the possible combinations of the alleles
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in order for a female daughter to inherit a sex linked trait the father ______
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has to have the disease
father= Xr Y mother=XR Xr daughter= Xr Xr if the father was XR Y the daughter could be XR Xr or XR XR NOT Xr Xr |
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dihybrid
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when two things are crossed to study two different traits at once
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what makes AO BO AB and OO blood different and which can give transfusions to which?
which is the universal donor and which is the universal receiver |
AO--- makes an anti B antibody
BO--- makes an anti A antibody AB-- makes both A and B antibodies OO-- doesn't make any antibodies so the difference is what antibody each blood makes if AO receives blood from BO the antibodies that AO makes (anti B) will kill the BO blood---- so you can only receive blood from blood that makes the same antibody as you do OO is the universal donor since it doesn't make any antibodies at all--- but OO can only receive blood from OO AB is the universal receiver since it makes all the antibodies already so it doesn't matter |
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what is the difference between positive and negative blood
which can donate to which? |
if your blood is positive it means your blood makes a certain type of antibody
if your blood is negative it means your blood doesn't make the antibody positive can receive from negative but negative can't receive from positive, only negative |
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what are the three laws of gregor mendel
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1) law of dominance--- if you have two alleles and one is dominant and one is recessive the dominant one will overpower the recessive one--- the genes will not blend (a tall person plus a short person doesn't give you a medium person)
2) law of segregation--- a baby inherits exactly ONE allele out of two from each parent--- he doesn't inherit both alleles from one parent 3) law of independent assortment--- when it comes to meiosis the alleles for traits are separated totally randomly into the gametes-- it doesn't matter whether the trait is dominant or not |
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mendel
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1860's
studied garden peas b/c garden peas were easy maintenance, reproduced quickly, the flowers had male and female parts, and had distinguishable traits |
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homozygous and heterozygous
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homozygous--- both alleles are the same--- either RR or rr
heterozygous-- alleles are different Rr |
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genotypic ratio
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all of the possible outcomes of gene crossing
for example the genotypic ratio when a Rr is crossed with an Rr is... 1RR 2Rr 1rr |
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genotype
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the allele--- Rr RR and rr are genotypes
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phenotypic ratio
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deals with the appearance not the genotypes
for example... 3Tall 1Short |
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what is epistasis and what makes a yellow brown and black lab?
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when you have two genes (BbCc) but the second gene has to have at least one dominant allele (either Cc or CC) in order to activate the first gene
for example BBCc BBCC BbCC BbCc bbCC bbCc all work b/c at least one allele of the second gene is dominant so it turns on the first gene ---------------------------------------- Black labs (B) are dominant Black labs--- BbCc BbCC BBCC BBCc Brown labs--- bbCC or bbCc--- these are brown because they are recessive for the first trait but have a dominant allele in the second trait to turn the first one on yellow--- bbcc Bbcc BBcc-----since the second gene is not dominant it doesn't turn the first one on so its yellow-- doesn't matter what the first gene is |