PCAT > Genetics > Flashcards

Genetics Flashcards

(48 cards)

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1
Q

genes

A

the basic unit of genetic material

defined portion of a chromosome that encodes for a particular trait or substance such as hair color, blood type, etc.

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2
Q

alleles

A

the different forms a particular gene can occur in

you have 2 copies of each gene

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3
Q

homozygous

A

2 identical alleles for a particular gene

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4
Q

heterozygous

A

2 different alleles for a particular gene

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5
Q

dominant

A

always expressed

indicated by capital letter

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6
Q

recessive

A

will be masked by a dominant gene
can only be expressed if there is no dominant gene present
indicated by a lowercase letter

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7
Q

codominant

A

neither masks the other so both are expressed

e.g. blood type

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8
Q

genotype

A

the makeup of the gene

which 2 alleles are present

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9
Q

phenotype

A

what actually gets expressed

what you see

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10
Q

punnet squares

A

the method for predicting the outcome of a cross between 2 parents
make a grid of genotypes

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11
Q

dihybrid cross

A

cross with 2 different traits

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12
Q

blood types

A

based on what is on the cells surface

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13
Q

Type A

A

A antigen on RBCs surface
can’t receive B
can receive A or O
dominant

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14
Q

Type B

A

B antigen on RBCs surface
can’t receive A
dominant

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15
Q

Type AB

A

both A and B antigen on RBCs surface
can receive from everyone
codominant

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16
Q

Type O

A

neither A or B antigen on RBCs surface
can only receive from O, but is the universal donor
recessive

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17
Q

RH blood system

A

+ or -
+ is dominant
- is recessive

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18
Q

sex determination

A 
XX= female
XY= male
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19
Q

hemophelia

A

most common X-linked disorder
defect in clotting proteins
recessive

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20
Q

color blindness

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A

red/green is most common form

mainly found in males

21
Q

autosomal recessive disorders

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A

trait is on chromosomes other than the sex chromosomes

must have 2 copies of the gene for it to be expressed

22
Q

albinism

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A

autosomal recessive disorder

defect in production of melanin

23
Q

sickle cell anemia

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A

autosomal recessive disorder
defect in the gene making hemoglobin
RBCs have typical sickle shape

24
Q

PKU

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A

phenylketonuria
autosomal recessive disorder
enzyme defect leads to buildup of phenylalanine in the bloodstream and neurological problems

25
cystic fibrosis
autosomal recessive disorder enzyme defect causes the production of abnormal mucus which causes problems in both the respiratory and gastrointestinal tracts
26
autosomal dominant disorders
only need 1 copy to have the disorder | just 1 parent needs to be the carrier
27
huntington's
autosomal dominant disorders invariably fatal neurological disorder which does not show up until 30 or 40 years of age, after the person has had children and possibly passed the gene on
28
polydactyly
autosomal dominant disorders | extra fingers and toes
29
chromosomal & structural disorders
involve physical or structural defects in the chromosomes rather than the genes often result from nondisjunction, where 1 or more chromosome pairs do not separate during mitosis or meiosis leads to cells having too many or too few chromosomes due to unequal distribution during cell division
30
polyploidy
refers to more than the usual amount of a particular chromosome e.g. XXY (klinefelter syndrome) or XYY
31
down's syndrome
polyploidy also known as trisomy 21 due to the fact that there are 3 copys of that chromosome associated with structural defects of the face and neurological problems
32
anuploidy
only 1 copy of the chromosome | e.g. girls with only 1 X chromosome (turner's syndrome)
33
DNA structure
nucleic acid composed of 4 bases or nucleotides (A&T, C&G) base pairing-2 strands of DNA connected by H-bonding between bases in the 2 strands form double helix in RNA there is A&U pairing instead of T
34
DNA replication
strands split each strand is template for the synthesis of the complementary new strand DNA polymerase is primarily responsible for this
35
the genetic code
proteins are strings of AA each series of 3 bases (codon) codes for 1 AA start and stop codons mark the beginning and end of the protein
36
protein synthesis
transcription-1 strand of DNA is read to produce mRNA translation-mRNA attaches to ribosomes to trigger the production of the protein codons in mRNA are read by tRNA to place the appropriate AA
37
mutation
a permanent change in the structure of the DNA which is passed on to the offspring of the effected cell may or may not have a noticeable effect and the effect may be helpful or harmful
38
causes of mutations
radiation, chemicals, and viruses
39
missense mutation
single base is changed leads to change in codon which leads to a different AA change in the 1st of the 3 letters will have the greatest impact
40
nonsense mutation
single base is changed | changes codon to become a STOP codon, which terminates synthesis prematurely
41
frame shift
addition or removal of an extra base
42
insertion frame shift
extra base inserted into DNA molecule | throws off the codon it ends up in and all of those downstream from that point (major change)
43
deletion frame shift
base is deleted from the DNA molecule | throws off the codon it ends up in and those downstream from that point (major change
44
recombination
transfer of genetic information from 1 organism (donor) to the other (recipient)
45
transformation
DNA from a dead bacteria which has broken apart is taken up through the cell wall of the recipient bacteria and integrated into its own DNA
46
conjugation
exchange of a small piece of DNA (plasmid) from 1 bacteria to another the bacteria are joined together by a sex pilus
47
transduction
a virus carries genetic information from 1 bacteria to another
48
transposons
jumping genes | genetic elements that move from 1 place to another within a chromosome
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