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Bio 101 > Test 4 > Flashcards

Test 4 Flashcards

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1
Q

Inheritance Patterns

A

Autosomal Recessive
Autosomal Dominant
Sex linked Recessive
Sex linked Dominant

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2
Q

Autsomal Dominant Disorder

A

Huntington Disease

Achondroplasia

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3
Q

Huntington’s Disease

A

autosomal dominant
Progressive degeneration of nerve cells causing muscle spasms, personality disorders, death (10-15 years after onset)
protein huntington has too many glutamines and forms large clumps of proteins in neurons

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4
Q

Achondroplasia

A

autosomal dominant
common from of dwarfism
short arms and legs, sway back, normal torso and head AA is lethal for embryo

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5
Q

Incomplete Dominance

A

One allele isn’t dominant over the other

Heterozygote produces an in-between version (snapdragons)

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6
Q

Codominance

A

Both alleles expressed equally

ex. human blood types- three alleles positive o is recessive

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7
Q

polygenic inheritance (most traits)

A

trait is governed by more than one set of alleles
range of phenotypes
genes have additive effect
environmental factors effect the expression of genes ex. skin color

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8
Q

nature vs. Nurture

A

environment plays a role in gene expression

external or internal environment

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9
Q

chromosomal inheritance

A

23rd- sex chromosome
X can carry genes for other traits
y has very few genes

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10
Q

traits found on sex chromosome

A

colorblindness, duchenne muscular dystrophy, hemophilia, hypophosphotemia

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11
Q

colorblindness

A

red/green-males have a recessive allele on the x chromosome that does not allow them to see greens and reds

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12
Q

muscular dystrophy

A

duchenne muscular dystrophy is x linked
wasting away of muscles
waddling gait, toe walking, falls, may appear early

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13
Q

hemophilia

A

sex linked
bleeders dissease- blood doesn’t clot or clots slowly
due to lack of clotting factor VII
controlled by transfusions of blood and clotting factors
prevalent in European monarchies b/c of Queen Victoria

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14
Q

Dominant x linked disorder

A

hypophosphotemia- vitamin d resistent rickets, low phosphate in blood, abnormal bone formation, short stature , bowed legs, bone pain, bone deformities (often within first year of life)

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15
Q

correct chromosome number

A

euploidy
polyploidy-organism has three or more sets of chromosomes
aneuploidy-organism has more or less than normal number of chromosomes
monosomy- 1 of a pair
trisomy- 3 of a chromosome
caused by nondisjunction failure of chromosome to separate in meiosis.

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16
Q

Down Syndrome

A

short stature, eyelid fold, flat face, stubby fingers, wide gap between 1st and 2nd toes, heart problems, mental retardation
can be discovered in womb by amniocentesis

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17
Q

Turner Syndrome

A

XO- female only 1 x sterile

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18
Q

Klinefelter

A

XXY= male

underdeveloped testes and prostate, no hair, breast development

19
Q

Supermale/ Superfemale

A

XXXX-superfemale; tall and thin, learning difficulties, fertile
XYY- supermale tall, acne, learning difficulties, speech and reading difficulties

20
Q

Converting RNA to DNA

A

RNA doesn’t have t’s in it; convert RNA to DNA

21
Q

Mendel

A

Austrian monk
did his work before we knew about chromosomes/genes
work in late 1800s
wrote everything down
found that traits are passed down from one generation to the next in individual units we now call genes

22
Q

generations

A

p generation- parent
f1- first offspring
f2- offspring of f1

23
Q

law of segregation

A

each individual plant has two factors (alleles) for each trait
the factors separate during the formation of gametes
each gamete contains only one of the pair of factors
fertilization gives each new individual two factors for each trait.

24
Q

Genetic Terms

A

2 alleles per one trait
dominant- allele that masks the other allele
recessive-allele that is masked by the other allele

25
Q

Homozygous

Heterozygous

A

homozygous-when organism has two identical genes

heterozygous-when an organism has two different genes

26
Q

genotype

phenotype

A

genotype-the alleles that the organism has

phenotype- the way the organism looks

27
Q

punnet square

A

simple way to figure the results of a cross

FOIL

28
Q

Law of Independent Assortment- meiosis 1

A

factors separate independently of each other

all possible combination of factors can occur in gametes

29
Q

dihybird cross

A

two traits are crossed

30
Q

when in doubt phenotypic ratio

A

9:3:3:1

31
Q

Human genetic disorders

A

medical conditions caused by genes inherited from parents.

if you get the gene, you will get it

32
Q

Taysachs

A

Autosomal Recessive
lack of enzyme hex a results in a build up of a chemical in the lysosomes
causes development of a baby to slow at 4-8 months of age, become blind, helpless, paralyzed, and eventually death occurs
no cure
occurs in 1 of 3600 jewish people in u.s.

33
Q

Albinism

A

autosomal recessive

34
Q

PKU-phenylketonuria

A

Autosomal recessive
deficiency of enzyme that breaks down aa in phenylalanine
1 in 5,000 births
mental retardation develops if child consumes too much phenylalanine

35
Q

translation

A

from RNA to protein. RNA has three letter base sequence called a codon that specifies an amino acid.

36
Q

tRNA

A

has a three letter base sequence that matches the codon called an anticodon

37
Q

codons are

A

degenerate ( some AA have more than one code)

38
Q

mutations

A

change in DNA base sequence

base substitution- substitution of one base for another

39
Q

insertion or deletion

A

base is put in or taken out
ribosome reads a different set of condones
causes a frameshift where all codons downstream are off and destroys protein
causes of mutations- trasnposons (jumping gens) sequences of DNA that jump from one area of chromosome to another

40
Q

operon

A

segment of DNA that contains one or more genes; prokaryotic

41
Q

e. coli has a lac operon that helps it digest lactose when needed

A

when lactose is absent, e. coli produces a repressor protein and blocks the genes in the lac operon from being transcribed.
when lactose is present, operon gets turned on
when operon is turned on, it produces 3 enzymes that digest the lactose

42
Q

genetic engineering

A

modify an organism’s DNA
recombinant DNA- splice together genes from 2 species
restriction enzymes- cleave or cut DNA at specific sites
DNA ligase joins pieces of DNA together

43
Q

plasmid

A

small circular extrachromosomal DNA in bacteria

44
Q

gene therapy

A

a good gene inserted to replace a faulty gene

1) get a copy of a normal gene
2) insert into virus
3) insert virus into person with faulty gene
4) normal gene will be expressed -> cure

Bio 101 (1 decks)

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