DAT Bio Genetics Flashcards

(60 cards)

1
Q

Gene

A

genetic material on a
chromosome for encoding a trait

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2
Q

Locus

A

location on chromosome where a
gene is located`

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3
Q

Allele

A

alternative forms of a gene that
allow for differences such as different hair
or fur colors

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4
Q

Homologous chromosomes

A

a pair of
chromosomes that contain the same
genetic material
i. Each parent contributes one of the
chromosomes in the pair, thus
allowing for different alleles to be
present for each gene

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5
Q

Law of Segregation

A

one member of
each chromosome pair migrates to an
opposite pole in anaphase I so that each
gamete is haploid
i. Basically, each gamete is left with one
copy of each allele

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6
Q

Law of Independent Assortment

A

the
migration of homologues within one pair
of homologous chromosomes does not
influence the migration of homologues of
other homologous pairs

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7
Q

Monohybrid cross

A

two organisms
with variations at one gene of
interest are crossed

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8
Q

Dihybrid cross

A

two organisms with
variations at two genes of interest
on different chromosomes are
crossed

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9
Q

Test cross

A

when the genotype of
an organism expressing the
dominant phenotype is unknown,
the unknown organism is crossed
with a homozygous recessive
organism to determine if the
unknown is homozygous dominant
or heterozygous dominant

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10
Q

Punnett squares

A

technique that
uses probability rules to determine the
outcomes of either monohybrid or
dihybrid crosses and the subsequent
expected frequencies

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11
Q

Incomplete dominance

A

blending of
expressions of alleles

For example, a red flower and white
flower are crossed to result in a
unique heterozygous pink offspring

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12
Q

Codominance

A

both of the inherited
alleles are completely expressed
i. For example, blood types A and B
can show as AB if both are
expressed

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13
Q

Multiple alleles

A

blood groups have
four possible phenotypes, the
codominant A, B, and O, leading to six
possible genotypes and four possible
phenotypes

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14
Q

AA/AO →

A

type a

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15
Q

BB/BO →

A

type b

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16
Q

AB →

A

codominant AB type

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17
Q

OO →

A

type O

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18
Q

Epistasis

A

the process in which one
gene affects the phenotypic
expression of a second gene. A
common example of epistasis is fur
pigmentation in mice → one gene
controls the production of pigment by
either turning on or turning off and the
second gene controls the color or
amount of color deposited in the fur.
Therefore, if the first gene codes for
no pigment, then the second gene has
no effect

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19
Q

Pleiotropy -

A

when a single
gene has more than one phenotypic
expression

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20
Q

Polygenic inheritance

A

the interaction
of many genes to shape a single
phenotype with continuous variation
such as height, skin color, or hair color

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21
Q

Linked genes

A

when two or more
genes reside physically close to one
another on the same chromosome and
therefore cannot separate
independently as they are inherited
together

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22
Q

Sex-linked genes

A

a type of linked gene
that refers to a single gene residing on a
sex chromosome that is inherited
differently in males and females

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23
Q

Sex-influenced genes

A

these differ
from sex-linked genes in that the
expression of genes can be influenced
by the sex of the individual carrying the
trait

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24
Q

Penetrance

A

this concept describes the
probability an organism with a specific
genotype will express a particular
phenotype

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25
Complete penetrance means
the genes for a trait are expressed in all of the population who have the gene
26
Incomplete penetrance means
the genes for a trait are only expressed in a percentage of the population
27
Variable Expressivity
describes the variation or range of phenotypes for a specific genotype
28
X-inactivation
during embryonic development in female mammals, one of the two inherited X chromosomes does not uncoil into chromatin, and remains as a dark and coiled compact body, which is referred to as a Barr body.
29
Nondisjunction
describes when one or more chromosome pairs or chromatids fail to separate during mitosis. (sister chromatids meiosis ii, homo chromosomes meiosis i)
30
Mosaicism
a phenomenon that occurs in cells that undergo nondisjunction in mitosis during embryonic development; fraction of body cells have extra or missing chromosomes
31
Polyploidy
when all chromosomes undergo meiotic nondisjunction and produce gametes with twice the number of chromosomes
32
Point mutation
single nucleotide change causing either substitution, insertion, or deletion—the latter two can cause a frameshift mutation.
33
transition mutation
conversion of a purine to purine or pyrimidine to pyrimidine.
34
transversion mutation
conversion of a purine to pyrimidine or vice versa.
35
Aneuploidy
a genome with extra or missing chromosomes, often caused by nondisjunction (downs syndrome)
36
Klinefelter’s Syndrome
(XXY), in which a male is born with an extra X chromosome
37
Chromosomal aberrations
chromosome segments are changed
38
duplications
chromosome segments are repeated on the same chromosome, which can occur from unequal crossing over
39
Inversions
chromosome segments are rearranged in reverse orientation
40
Translocations
one segment of a chromosome is moved to another chromosome.
41
Chromosomal breakage
spontaneous or induced breakage of a chromosomal segment via mutagenic agents or X-rays
42
Mutagenic agents
include cosmic rays, X-rays, UV rays, radioactivity, chemical compounds including colchicine and mustard gas that can cause genetic mutations. Mutagenic agents are generally also carcinogenic
43
Autosomal recessive conditions (genetic conditions)
Phenylketonuria (PKU), Cystic fibrosis, Tay-sachs
44
Phenylketonuria (PKU)
inability to produce the proper enzyme for phenylalanine breakdown, causing degradation product phenylpyruvic acid to accumulate
45
Cystic fibrosis
fluid buildup in respiratory tracts
46
Tay-sachs
lysosome defect in which cells can’t breakdown lipids for normal brain function
47
Autosomal dominant conditions
Huntington’s disease, Achondroplasia, Hypercholesterolemia
48
Huntington’s disease
nervous system degeneration
49
Achondroplasia
causes dwarfism
50
Hypercholesterolemia
excess cholesterol in blood that progresses into heart disease
51
Sex-linked recessive conditions
Hemophilia, color blindness, Duchenne’s Muscular Dystrophy
52
Hemophilia
sex-linked recessive genetic condition causing abnormal blood clotting
53
Color blindness
primarily observed in males
54
Duchenne’s Muscular Dystrophy
progressive loss of muscle
55
Chromosomal disorders
changes to the number or structure of chromosomes
56
Down’s Syndrome
trisomy 21
57
Turner’s Syndrome
deletion of X chromosome → XO genotype
58
Cri du Chat
deletion on chromosome 5
59
Extranuclear inheritance
extranuclear genes (genes present in organelles other than the nucleus) are found in mitochondria and chloroplasts
60
Lethal gene
Imagine we cross Aa x Aa, and get 1 AA, 2 Aa, and 1 aa. If “aa” is lethal, our genotypic ratio would be AA and Aa present in a 1:2 ratio.