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ANT203 > Modern Human Variation 1 > Flashcards

Modern Human Variation 1 Flashcards

1
Q

hardy-wienberg equilibrium equation

A

p= frequency of the dominant allele in the population
q= frequency of the recessive allele in the population
p^2= percentage of homozygous dominant individuals
q^2= percentage of homozygous recessive individuals
2pq= percentage of heterozygous individuals

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2
Q

what does it mean if traits are seen in the next generation?

A

the trait is in equilibrium and not evolving

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3
Q

epigenetics

A

DNA interacts with environment to influence appearance, behaviour, and function

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4
Q

do environmental factors affect genetic expression

A
  • yes, genotype and phenotype interactions
  • epigenetics and environmental influences
  • changes can be inherited
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5
Q

what is a growing area of research in modern synthesis

A
  • relationship to adult health in humans
  • greater understanding of genetic and epigenetic mechanisms
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6
Q

mendelian inheritance

A
  • mendelian traits; discrete traits that work in classic mendelian fashion
  • punnet squares; principles of segregation and independant assortment
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7
Q

mendelian traits

A
  • 1:1 genotype-phenotype relationship
  • dominant and recessive
  • ex. cystic fibrosis, eye colour, ABO blood group, freckles, sickle cell anaemia
  • lactase persistence
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8
Q

monogenic

A
  • variations on dominant-recessive pattern
  • traits that are controlled by one gene
  • codominance
  • incomplete dominance
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9
Q

polygenic

A

Traits that are controlled by multiple genes, has small and similar effect

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10
Q

pleiotropic

A

producing more than one trait

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11
Q

gene-linked traits

A
  • alleles that are closer together inherited together at a higher frequency
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12
Q

sex-linked traits

A

ex. colour blindness, hemophilia

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13
Q

hemophilia

A
  • mutation in factor VII (hemophilia A)
  • blood clotting tissue
  • X-linked trait; mendelian recessive trait, XYX individuals more likely to express, XX individuals carriers
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14
Q

blood components

A
  • red blood cells (erythrocytes); 45%
  • white blood cells (leukocytes); <1%
  • plasma (albumin, fibrogen, globulin); 55%
  • three allele system, 6 possible genotypes
  • A and B alleles are codominant
  • O alleles is recessive (h antigen)
  • AB+ = universal recipient
  • OO- = universal donor
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15
Q

functions of blood components

A
  • immune system; antibodies, antigens
  • nutrition transport; hemoglobin
  • ABO and Rh blood groups; A, B, O types, Rh blood group, Rh D-positive, Rh D-negative
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16
Q

Karl landsteiner

A
  • transfusion
  • blood agglutination
  • won noble prize
17
Q

ABO molecular structure

A
  • blood is determined by chromosome 9 (3 alleles)
  • A, B, O blood types are phenotypes
18
Q

antigens

A

present on cell

19
Q

antibodies

A

present in plasma

20
Q

agglutination (in a type A recipient)

A

type A blood of donor > anti-B agglutination of type a recipient > no agglutination

21
Q

agglutination (in a type B recipient)

A

type B blood of donor > anit-B agglutination of type A recipient > agglutination > hemolysis

22
Q

Rh blood group

A
  • Rh+ and Rh-
  • D antigen
  • there are consequences for mixing Rh+ and Rh-
  • Rh+ can donate to other + but not -
  • Rh- can donate to anyone
23
Q

haemolytic disease of the newborn

A
  • Incompatibilities between mother and infant blood types
24
Q

distribution of blood types

A
  • natural selection
  • Differential susceptibility to certain diseases and environmental stressors; smallpox and black death, balance between evolutionary forces
25
Q

clines

A
  • gradual frequency change; suggests gene flow or natural selection
  • abrupt changes; genetic drift or founder effect
26
Q

hemoglobin

A
  • protein structure
  • central iron component
  • transportation of oxygen and carbon dioxide
  • lack of it causes anemia
27
Q

hemoglobin abnormalities

A

sickle cell anemia

28
Q

sickle cell anemia

A
  • linus pauling, harvey itano, SJ singer, and albert wells
  • disease due to abnormal protein; sickle shape
  • causes clumping and blockages
  • 2 allele system; Hb^A (normal), Hb^B (sickle shape)
  • codominant
  • single amino acid substitution at gene chromosome 11
  • Homozygous for Hb^B have a higher proportion of sickle cell anemia (has it)
  • heterozygous for Hb^B have some sickle cells but could be asymptomatic (issues arise as oxygen consumption increases
  • homozygous Hb^A all normal shape
29
Q

effects of sickle cell anemia

A
  • decreased life expectancy
  • destruction of sickle cells
  • clumping and blockages
  • accumulation in spleen
30
Q

where is sickle cell anemia more prominent

A
  • higher proportions in africa and among african americans, arabian peninsula
31
Q

malaria

A
  • mosquito-borne disease, female anopheles mosquito
  • protozoan parasite plasmodium
  • distribution is part of mosquito life style; specialized for human interactions
  • endemic in tropical regions
  • high mortality
  • high prevalence in horticulture and agriculture, increased population density, host and vector co-evolution
32
Q

sickle cell anemia and malaria

A
  • distribution of sickle cell affected by regions with malaria
  • where there is a risk of malaria, there is a selection for Hb^A Hb^B genotype
  • causes balancing selection
33
Q

sickle cell anemia frequencies of people that live a normal healthy life

A
  • Hb^A Hb^A = 0.8
  • Hb^A Hb^B = 1.00 (advantage)
  • Hb^B Hb^B = 0.2
34
Q

lactase perstistence and lactose intolerance

A
  • lactose; milk sugar
  • milk consumption; digestibility due to lactase enzyme
  • Maintaining the ability to digest lactose is lactase persistence, regulatory gene
  • they have independent origins
  • Convergent evolution; independent path/mutation, have a shared phenotype
35
Q

common feature to all mammals

A
  • mammary glands; modified sweat glands that produce milk
  • female nurse live offspring

ANT203 (12 decks)

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