DAT bio Chapter 7. Heredity Flashcards

1
Q

Genome

A
  • all the DNA within a cell.
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2
Q

Gene

A
  • sequence of DNA that codes for a trait.
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3
Q

locus

A
  • location of a gene on a chromosome.

Plural is gene loci

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4
Q

allele

A

one variation of a gene

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5
Q

wild type allele

A

normal allele that is most
common in nature. Can turn into a mutant
allele

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6
Q

mutation

A
  • heritable change in DNA
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7
Q

Genotype

A

Set of genes responsible for trait
Ex BB Bb bb

BB is brown eyes
Bb is blue eyes

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8
Q

Phenotype

A

observable traits that result from

a genotype.

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9
Q

Dominant alleles

A
  • mask the expression of
    recessive alleles. Typically represented by
    uppercase letters (“A”)
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10
Q

Recessive alleles -

A
  • only show up in a
    phenotype if dominant alleles are not present.
    Typically represented by lowercase letters (“a”).
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11
Q

Homologous pairs

A

two pieces of DNA within a diploid organism which carry the same genes, one from each parental source. In simpler terms, both of your parents provide a complete genome. Each parent provides the same 23 chromosomes, which encode the same genes

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12
Q

Heterozygous -

A

one dominant allele and one

recessive allele in its homologous pair

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13
Q

Homozygous -

A
  • same allele in both homologs.
    Can be homozygous dominant or
    homozygous recessive.
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14
Q

Hemizygous

A

only one allele is present. For
example, men only have one X and one Y
chromosome (not homologous), which contain
hemizygous genes

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15
Q

Penetrance -

A

proportion of individuals who exhibit the phenotype of an allele for a given gene. Can be complete penetrance or
incomplete penetrance. As shown below, Bb
individuals all have brown eyes only when
there is complete penetrance (refers to the probability of a gene or trait being expressed. )

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16
Q

Expressivity

A

describes how well a certain phenotype is expressed? All of the
children of this couple have genotype Hh for
medium thick hair, but because of expressivity,
just how medium thick (or medium thin) the
hair is varies. (degree of how expressed one phenotype is)

17
Q

Incomplete dominance

A

The dominant allele is not fully expressed when the recessive allele is around. will have an intermediate state. (Ex.
red x white = pink).

18
Q

Codominance

A

heterozygous genotype
expresses both alleles. (Ex. red x white = red +
white spots).

19
Q

Multiple alleles

A

n there are more
allele options than just two. (Ex. ABO blood typing
- A, B, O alleles)

20
Q

Epistasis

A

One gene suppresses the expression of another gene
Ex. baldness gene covers up
the genes for hair color)

21
Q

Pleiotropy

A

describes when one gene is
responsible for many traits. (Ex. cystic fibrosis is a
disease with many symptoms caused by a single
gene).

22
Q

Polygenic inheritance

A

many genes are
responsible for one trait. This gives the trait
continuous variation. (Ex. height, a single trait
affected by many genes

23
Q

Haploinsufficiency

A

when one copy of the
gene is lost or nonfunctional and the expression of
the remaining copy is not sufficient enough to
result in a normal phenotype. It can result in an
intermediate phenotype.

24
Q

Haplosufficiency

A

describes when the remaining
copy of the gene is sufficient enough to result in a
normal phenotyp

25
Q

Proto-oncogenes

A

e genes that can become
oncogenes (cancer-causing genes) due to
gain-of-function mutations. Gain-of-function
mutations can cause too much protein to be
made or production of an over-active protein;
Cancerous growth occurs as a result.
Proto-oncogenes are normally involved in cell cycle
contro

26
Q

one hit hypothesis

A

states that a gain-of-function mutation in

one copy of the gene turns it into an oncogene. This is associated with proto oncogenes

27
Q

Tumor-suppressor genes

A

(Anti oncogenes) genes that become
cancerous as a result of loss-of-function
mutations, because they are normally needed to
suppress cancerous growth

28
Q

two hit

hypothesis

A

states that a loss-of-function
mutation in both copies of the gene are needed to
make it cause cancer. Thus, tumor-suppressor
genes are haplosufficient. This is associated with tuomr suppressor genes

29
Q

Null alleles

A

come from mutations that cause the
alleles to lack normal function. Tumor-suppressor
genes have null alleles when they become
cancer-causing

30
Q

p53

A

important tumor-suppressor gene
that is known as the guardian of the cell . It is
upregulated (increase its response to a substance) to prevent cells from becoming
cancerous.

31
Q

p21

A

s another tumor-suppressor gene that
inhibits phosphorylation activity in order to
decrease rampant cell division.

32
Q

Retinoblastoma gene (RB)

A

is a
tumor-suppressor gene that codes for a
retinoblastoma protein, which prevents
excessive cell growth during interphase

33
Q

Gregor mendel proposed three laws

A

laws of dominance
law of segregation
law of independent assortment

34
Q

laws of dominance

A

dominant alleles mask
the expression of recessive alleles. Mendel
studied plant height to come to this conclusion.

35
Q

Law of segregation

A

homologous gene copies
separate during meiosis (specifically anaphase
I). Thus, Aa individuals will produce gametes
with “A” or “a” alleles

36
Q

homologous gene copies
separate during meiosis (specifically anaphase
I). Thus, Aa individuals will produce gametes
with “A” or “a” alleles

A

homologous chromosomes line up
independently during metaphase I of meiosis
so that alleles separate randomly (this
increases genetic variability). Metaphase II is
different, during which sister chromatids are
pulled apart instead. The law of independent
assortment can produce 2

23 options (23
homologous chromosome pairs split).