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Bio 1001 > Last Week: Patterns of Inheritance/Genetic Testing Tools > Flashcards

Last Week: Patterns of Inheritance/Genetic Testing Tools Flashcards

1
Q

father of classical genetics (worked w/ green peas)

A

gregor mendel

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2
Q

do autosomal dom and autosomal rec follow mendel’s laws

A

yes

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3
Q

does ABO (codominant) follow mendel’s laws

A

nope

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4
Q

does polygenic inheritance follow mendel’s laws

A

no

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5
Q

what does the x-linked dom and rec trait involve?

A

gender related inheritance

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6
Q

environment factors __ the way we express __ and alters the pheonotype
- also disproves mendel’s laws

A

influence; our genes

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7
Q

karyotype

A

indiv complete set of chromosomes (shows arrangement of chromosomes in nucleus)
- can be used to show abnormalities in chromosomes

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8
Q

how many chromosome pairs do we have?

A

23 pairs = 46 chromosomes

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9
Q

how many autosomal pairs do we have?

A

22 pairs (chromosomes 1-22)

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10
Q

the 23rd pair is responsible for what

A

determines gender

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11
Q

our parents EACH give us what

A

23 sets of chromosomes from male gamete (sperm cell) and 23 sets of chromosomes from female gametes (egg cell)

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12
Q

Humans are what?

A

diploids (2 sets of chromosomes: 1 from MOM/1 from DAD)

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13
Q

gametes are what?

A

haploid (1 set: either egg cell or sperm cell)

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14
Q

w/ dna sequence, what would happen?

A

no transcription/translation to express particular protein in our body)

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15
Q

_- are the source of alleles

A

mutations (all alleles originally arose ad mutations)

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16
Q

mutations are?

A

changes in sequence of nucleotides in the dna of a gene

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17
Q

if both chromosomes are carry the same allele of a gene at a locus =

A

homozygous

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18
Q

if each organism carries a diff allele of this gene =

A

heterozygous

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19
Q

inheritance

A

process by which the traits of organisms are passed to their offspring

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20
Q

genes

A

sequences of nucleotides at specific locations on chromosomes; segments of dna that encode info needed to construct an organism

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21
Q

chromosomes

A

carries hereditary info in the form of genes; defining feature of a chromosome in its compactness

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22
Q

locus/g-locus

A

gene’s physical location on a chromosome (gene map)

23
Q

alleles

A

any 1 of 2/more genes that can coocur alternatively at a given site (locus) on a chromosome
- 1 of the diff forms of a gene that can exist a single locus
- may occur in pairs/multiple alleles affecting the expression (phenotype)

24
Q

alleles depend on what factors?

A

genes/environmental

25
Q

genotype

A

genetic constitution of the indiv made up of alleles present at each genetic locus; can be represented by actual dna sequence ata a specific location (ex: CC, CT, TT)

26
Q

phenotype

A

observable traits determined by indiv’s genotype/environmental factors
- even insulin/dopamine/bloodtype can be phenotypes

27
Q

gene expression is __ when only 1 of 2 copies of a gene is active and the other is silent

A

monoallelic

28
Q

__ chromosome is inactive in females

A

X

29
Q

when both alleles of a gene are transcribed this is known as __

A

bi-allelic expression

30
Q

the __ chromosome is active in males

A

X

31
Q

a dominant allele only needs __ copy to be present

A

1

32
Q

a recessive allele needs __ copies to be present

A

2

33
Q

in hungtinton disease, which is a __ mutation, the indiv will get the diease regardless of what their other allele is

A

dominant

34
Q

examples of autosomal dominant mutations

A

huntington’s disease; neurofibromatosis; achondroplasia; familial hypercholesterolemia; etc…

35
Q

autosome is?

A

1 of the 22 numbered pairs of chromosomes that most of us carry in almost all cells of our body

36
Q

spontaneous mutation

A

mutation happens for 1st time in indiv

37
Q

examples of autosomal recessive mutations

A

tay-sachs disease; sickle cell anemia; cystic fibrosis; phenylketonuria; etc…

38
Q

a punnet square represents the probability of __ from diff gamete fusions in a specific cross

A

progeny/zygotes

39
Q

what causes sickle cell?

A

glutamic acid –> valine (hydrophobic acid) –> curls and makes hemoglobin
- sickle shape carries less oxygen

40
Q

codominance

A

more than 1 dominant allele for same gene is present

41
Q

there are __ allels in ABO blood type

A

3: A, B, O
A= dominant
B= dominant
C= recessive

42
Q

x-linked dom

A

affected MALES and FEMALES if mom is affected

43
Q

x-linked recessive

A

MALES more affected if mom is affected

44
Q

fathers can’t pass __ to their sons

A

x-linked traits (can only get them from MOM)

45
Q

the royal family had __ which is an x-linked recessive disorder

A

hemophilia (blood clots that = abnormal bleeding)
- more common in MALES

46
Q

polymerase chain rxn

A

kary mullis discivered this which amplified dna and is helpful in detecting a gene

47
Q

a heat stable dna polymerase __ is an enzyme isolatedfrom the thermophilic bacfterium thermus aquaticus (which inhabits hotspring)

A

Taq

48
Q

PCR is used to diagnose

A

genetic disease/detect low levels of viral infection

49
Q

rt-qpcr

A

assesses gene expression by measuring the abundance of certain rna
- NOT PRODUCED BY HUMANS
- produced by special kind of rna viruses (ex: HIV)

50
Q

rna is 1st __ into cdna by reverse transcriptase enzyme and used as template for qpcr amplification

A

1st reverse-transcribed

51
Q

a virus mutates __ due to

A

slowly; low fidelity rate in polymerase, a small genome, rapid replication cycle, less introns

52
Q

__ is removed to create a di-deoxy nucleotide

A

3’OH
- happens when we have sugar and phosphate but no dna
- stops adding more nucleotides
- used to find unknown dna sequence

53
Q

__ testing is used in paternity testing/resolving family-based immigration issues

A

dna fingerprinting

54
Q

dna fingerprinting?

A

method of isolating and identifying varibale elements w/in the base-pair sequence of dna
- uses VNTRs (large on top/small on bottom)

Bio 1001 (6 decks)

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