test 2: non-mendelian genetics Flashcards

(38 cards)

1
Q

pedigree

A

inheritance within a family group

  • analyzed to determine carriers for a disease
  • tracks disease or morphological traits in families
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2
Q

males are represented by what shape in a pedigree?

A

square

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3
Q

females are represented by which shape in a pedigree?

A

circle

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4
Q

autosomal recessive

A

can be hidden and skip generations

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5
Q

autosomal dominant inheritance

A

each affected child has an affected parent

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6
Q

simple autosomal recessive inheritance

A
  • trait determined by one gene on an autosome
  • only expressed by homozygous recessive individuals
  • certain diseases found in specific populations
  • skips generations // equal chance male or female
  • both parents have to be carriers to pass on disease
  • homozygous recessive NOT carriers
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7
Q

carrier

A

keeps allele in population but doesn’t exhibit the disease

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8
Q

exs of autosomal recessive

A

cystic fibrosis, tay sach’s

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9
Q

cystic fibrosis

A
  • 1 in 20 white north americans are carriers
  • deadly: cannot reproduce
  • respiratory disease
  • determined through genetic analysis and medical symptoms
  • all children born in north american are screened
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10
Q

tay sach’s

A

carriers: eastern european jews and french canadians

- brain swelling (enzyme doesn’t work), death by age 5

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11
Q

sickle cell anemia

A
  • 1 in 4 black people in central Africa are carriers
  • carriers more likely to survive malaria
  • susceptible to infections, fever, severe pain in chest and extremities
  • can’t deal with overexertion, high altitude, or respiratory illnesses
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12
Q

albinism

A
  • 1 in 70 from most populations are carriers
  • social/sun are the only risk factors
  • genetic condition which strikes all animal species (not just humans): may inhibit camouflage
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13
Q

simple autosomal dominant inheritance

A
  • 1 gene site
  • autosomal not gender related
  • trait produced with at least one dominant allele
  • most inherited traits are not fatal
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14
Q

simple autosomal dominant inheritances - diseases

A

dwarfism

huntington’s disease

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15
Q

huntington’s disease

A
  • affects individuals 40-50 years old
  • fatal disease (only takes one dominant allele)
  • two dominant alleles is very rare but they do survive
  • disease manifests itself after 40 (too late to not pass it on)
  • neuromuscular degeneration
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16
Q

what do both dwarfism and huntington’s display?

A

double dominance

17
Q

double dominance in dwarfism

A

deadly, baby survives a few days

18
Q

double dominance in huntington’s

A

very rare, usually a miscarriage

19
Q

how does one inherit a recessive trait?

A
  • both parents must have allele

- kept in population because being heterozygous is not disagvantageous (carriers)

20
Q

how does one inherit a dominant trait?

A
  • one parent must have allele

- if allele gives something bad, population will be purged of allele (dies out) - EXCEPTION HUNTINGTONS

21
Q

sex linked recessive inheritance

A
  • on the x or y
  • only looking at x
  • trait is recessive and on x, increase rate of males express
  • y: few alleles
22
Q

sex linked recessive inheritance examples

A

colour blindness, hemophilia

23
Q

x-inactivation

A
  • female mammals don’t use both x’s
  • as embryo: 1 X in each cell becomes inactive and is re-activated later only in ovaries
  • inactive x coils up into barr body
  • choice of x used is not random
  • females are mosaics
24
Q

incomplete dominance

A
  • offspring have an appearance somewhere between phenotypes of the two parents; “blending of the phenotypes”
  • ex: red allele + white allele = red and white OR pink
25
new heterozygous phenotypic ratio
incomplete = 1 : 2 : 1
26
codominance (blood type)
- many genes in populations can exist in more than one more
27
blood types
- 2 carbohydrates (A&B) found on surface of blood cell | - person can have one or the other (A or B), both (AB), or neither (O)
28
blood antigens
- outside of blood cell has marker protein (antigen) - antibodies are produced in the blood serum against foreign antigens - antibodies bind to the "bad" blood and cause it to clump (deadly) - careful with transfusions
29
why must blood tranfusions be a certain weight?
- body will react to blood cells with tags they don't recognize - won't react to O (no tags) = universal donor
30
+/- blood types are extra tags
RH tag (directly inherited, if one parent has it, you must have it)
31
Rh-
lacks antigen
32
Rh+
has the antigen
33
medical problems with Rh+/-
if mother is Rh- and fetus is Rh+ (from dad) - small amounts of blood are transferred during childbirth - mother can produce antibodies against the Rh+ factor - next pregnancy: can kill the child or damage the blood supply system (hemolytic disease) - prevention: RhoGam (destroys Rh+ antigens: prevents mother from producing any Rh antibodies) - works for short term (hurts immune system in the long run)
34
epistasis
- a gene at one location affects the phenotypic expression of a gene at another locus - there are many genes whose sole function is to turn on and off other genes
35
pleiotrophy
genes have multi phenotypic effects (1 gene = multiple traits)
36
polygenic inheritance
- some traits are not "either-or" - 2 or more genes affect a single phenotype ex: human height, eye color, skin color - these traits are called qualitative traits - opposite of pleiotrophy (1 gene affects many phenotypes) - multiple genes working together = one trait
37
multifactorial inheritance
more than one genetic factor that controls it and it is influenced by environment (ex: the womb) - root basis is genetic so it tends to run in families - involves polygenic ex: human height interacts with nutrition; heart disease interacts with lifestyle
38
extranuclear inheritance
- mitochondria and chloroplasts that carry their own DNA and replicate themselves (maternal) - used for studies that involve tracing species and individuals in family trees or orgins of groups; also criminal cases