Genetics Flashcards

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

A

red/green is most common form

mainly found in males

21
Q

autosomal recessive disorders

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

A

autosomal recessive disorder

defect in production of melanin

23
Q

sickle cell anemia

A

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

24
Q

PKU

A

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

25
Q

cystic fibrosis

A

autosomal recessive disorder
enzyme defect causes the production of abnormal mucus which causes problems in both the respiratory and gastrointestinal tracts

26
Q

autosomal dominant disorders

A

only need 1 copy to have the disorder

just 1 parent needs to be the carrier

27
Q

huntington’s

A

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
Q

polydactyly

A

autosomal dominant disorders

extra fingers and toes

29
Q

chromosomal & structural disorders

A

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
Q

polyploidy

A

refers to more than the usual amount of a particular chromosome
e.g. XXY (klinefelter syndrome) or XYY

31
Q

down’s syndrome

A

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
Q

anuploidy

A

only 1 copy of the chromosome

e.g. girls with only 1 X chromosome (turner’s syndrome)

33
Q

DNA structure

A

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
Q

DNA replication

A

strands split
each strand is template for the synthesis of the complementary new strand
DNA polymerase is primarily responsible for this

35
Q

the genetic code

A

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
Q

protein synthesis

A

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
Q

mutation

A

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
Q

causes of mutations

A

radiation, chemicals, and viruses

39
Q

missense mutation

A

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
Q

nonsense mutation

A

single base is changed

changes codon to become a STOP codon, which terminates synthesis prematurely

41
Q

frame shift

A

addition or removal of an extra base

42
Q

insertion frame shift

A

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
Q

deletion frame shift

A

base is deleted from the DNA molecule

throws off the codon it ends up in and those downstream from that point (major change

44
Q

recombination

A

transfer of genetic information from 1 organism (donor) to the other (recipient)

45
Q

transformation

A

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
Q

conjugation

A

exchange of a small piece of DNA (plasmid) from 1 bacteria to another
the bacteria are joined together by a sex pilus

47
Q

transduction

A

a virus carries genetic information from 1 bacteria to another

48
Q

transposons

A

jumping genes

genetic elements that move from 1 place to another within a chromosome