DAT bio Chapter 7. Heredity Flashcards

(36 cards)

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
Proto-oncogenes
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
one hit hypothesis
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
Tumor-suppressor genes
(Anti oncogenes) genes that become cancerous as a result of loss-of-function mutations, because they are normally needed to suppress cancerous growth
28
two hit | hypothesis
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
Null alleles
come from mutations that cause the alleles to lack normal function. Tumor-suppressor genes have null alleles when they become cancer-causing
30
p53
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
p21
s another tumor-suppressor gene that inhibits phosphorylation activity in order to decrease rampant cell division.
32
Retinoblastoma gene (RB)
is a tumor-suppressor gene that codes for a retinoblastoma protein, which prevents excessive cell growth during interphase
33
Gregor mendel proposed three laws
laws of dominance law of segregation law of independent assortment
34
laws of dominance
dominant alleles mask the expression of recessive alleles. Mendel studied plant height to come to this conclusion.
35
Law of segregation
homologous gene copies separate during meiosis (specifically anaphase I). Thus, Aa individuals will produce gametes with “A” or “a” alleles
36
homologous gene copies separate during meiosis (specifically anaphase I). Thus, Aa individuals will produce gametes with “A” or “a” alleles
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). ```