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FINAL Biomedical Sciences > Genetic Terms > Flashcards

Genetic Terms Flashcards

1
Q

Compound Heterozygous

A

Both alleles are mutant, but at different points in the allele

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2
Q

Hemizygous

A

Abnormal gene is on X chromosome in male patients

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3
Q

Allelic heterogeneity

A

You have one phenotype, but a number of mutations on one locus can get you there

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4
Q

Phenotypic Heterogeneity

A

You are looking at only one gene, and different mutations on that gene gives you different clinical phenotypes

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5
Q

Locus heterogeneity

A

One clinical phenotype is brought upon by mutations in alleles at different loci

Example is long QT

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6
Q

Plietropy

A

One gene affects multiple traits in multiple systems

VHL tumor

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7
Q

Factors that can confound a pedigree

A
  1. Early lethality
  2. Small family size
  3. Variable onset
  4. Non-Mendelian inheritance
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8
Q

Autosomal Inheritance Risk

A

Both parents must be heterozygotes

25%

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9
Q

AR Risk that Unaffected Child Will be Carrier

A

66%

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10
Q

AR Risk that Child will be carrier

A

50%

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11
Q

Factors that affect the risk in AR disease

A

Consanguinity
Carrier frequency
Inbreeding
Genetic isolates

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12
Q

Autosomal Dominant risk of Inheritence

A

50% in child of either sex

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13
Q

Incomplete Dominance

A

Someone who is homozygous for an AD disorder will have a more severe phenotype than someone who is not.

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14
Q

AD reduced penetrance

A

If the given genotype for disease has anything less than 100% phenotypic expressivity if heterozygous

ALL OR NOTHING

80% means that only 80% of people that have it show it

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15
Q

Variable Expressivity

A

Between people in the population that have the mutation, severity can differ between two people

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16
Q

Sex limited AD

A

Disease can be present in two sexes, but only one sex will express it

MPP is when LH is shut off in MALES ONLY

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17
Q

X-linked inheritance

A

Hemizygous males and homozygous females are affected

NO MALE TO MALE TRANSMISSION

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18
Q

Germline Mosaicism

A

When the parent is phenotypically normal, but has a mutation in the sperm or egg production

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19
Q

Somatic Mosiacism

A

A mutation that does not happen in the Germline, but happens in the somatic cells of the embryo

Parents will be normal

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20
Q

C-Value

A

Amount of DNA in one copy of the genome

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21
Q

How to increase genome complexity/size

A

Duplication- of existing sequences. Followed by divergence and selection.

Incorporation-bringing in DNA from other species. Bacterial and viral DNA (lateral transfer)

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22
Q

Conclusions from ENCODE

A

80% of DNA is functional

60-75% is translated into RNA

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23
Q

Tandem Repeats

A

Create hot spots for recombination- inversion, duplication, deletion
Indicated in red/green color blindness

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24
Q

Short Repeats

A

Satellite sequences- 100’s bp long, mostly at centromeres and telomeres
Micro satellites- used for genetic counseling. Few bp repeats

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25
Q

Retrotransposons

A
  1. RNA Pol II
  2. Reverse Transcriptase
  3. Integration
    LINE- mRNA encoding reverse transcriptase
    SINE-short mRNA transcript
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26
Q

Pseudo genes

A

Copies of mRNA transcripts in the genome that stay inert because they do not have promoter sequences

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27
Q

G banding

A 
Giemsa dye
P-short     Q-long 
Acrocentric- high centromere position
Can detect large structural changes 
1 band= 45 genes
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28
Q

FISH

A

Chromatin/chromosomes bound to slide and probes are used to hybridize by specific sequence

You need to know what you are looking for

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29
Q

Interphase FISH

A

Faster version, can be done anytime, lower resolution

Prenatal diagnosis

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30
Q

Metaphase FISH

A

Remember, shows issue in region SPECIFIC to probe

Can look for smaller changes than interphase

Resolution decreases as probes increase

31
Q

Comparative Genome Hybridization (CGH)

A

Array of Oligonucleotides specific to sequences immobilized on a chip

Compare PCR amplified test to standard DNA

Yellow means good expression, green means too much, red means too little

32
Q

CGH Defects

A

Can only detect quantity, not quality. You cannot see inversions or translocations because the sequence will be identical

33
Q

Translocation

A

Recip-Each chromosome changes and even amount of bases

Nonrecip- when segment moves from one to another

34
Q

Identity of a chromosome

A

Identity of its centromere

35
Q

46 XY t(A:B) (q/pX;q/pY)

A

Normal number with a translocation between A and B in q arm X to Y

36
Q

45 XX -14 -12 +rob (14q;21q)

A

Robertsonian translocation at the q arms of 14 and 21, which causes monosomy at both chromosomes

Often not lethal

37
Q

45 XX t(21;21) (q1.0;q1.0)

A

Isochrome translocation

Viable but gametes receive either i21q (trisomy Downs)or no 21 at all (monosomy lethal)

38
Q

46 XX inv(6) (p23;q21)

A

Inversion on chromosome 6 within the chromosome between p23 and q21

Pericentric- different arms
Paracentric- same arms

39
Q

46 XX dup(8)(q13;qter)

A

There is a duplication on chromosome 8 that takes the area between q13 and qter and repeats it adjacent.

40
Q

46 XY del19(q13.1;q13.3)

A

There is a deletion on chromosome 19 that takes away the area between q13.1 and q13.3

41
Q

Heritability

A

H=Variance DZ -Variance MZ/ Variance DZ
DZ= brother sister MZ=identical twins
0= not due to heritability
1= completely due to heritability

42
Q

Multifactorial inheritance

A

Attributable to 2 or more genes, the environment, or both

43
Q

Functional polymorphisms vs mutations

A

FP are common in the population whereas mutations are not

FP are population risk, mutations are individual risk

44
Q

SNIP Panel

A

Looks for SNP’s that are analogous to diseased alleles to find the alleles

Same thing for finding the good alleles

Probably ASO

45
Q

Rare variants in the human populations

A

Mutations

46
Q

Common variants in the human population

A

Functional polymorphisms

47
Q

Knock in

A

Replacing WT with a mutant gene

48
Q

Homeobox motifs

A

Rich in AT pairs

Only show specificity in vivo

49
Q

HOX gene order

A

3’ head

5’ butt

50
Q

Hox A-P expression

A

Genes further 3’ have further anterior boundary -spatial

Genes further 3’ have earlier expression - temporal

51
Q

Anterior transformations

A

Due to loss of function mutations

3’ genes go further posteriorly

52
Q

Posterior transformations

A

Gain of function mutations

5’ gene gets revved up

53
Q

Formation of head structures

A

Otd- fly

Otx1/2- mammal

54
Q

Genes needed to revert to stem state

A

OCT4, SOX2, NANOG, C-MYC, KLF4

55
Q

Sonic hh necessity

A

Development of the CNS

56
Q

PKA

A

Phosphorylates Ci/Gli proteins for degradation

57
Q

Shh and CNS stem cells

A

Necessary for growth, proliferation, survival

58
Q

Mature hh protein

A

Cleaved and added cholesterol

Need action of DHCR7

59
Q

Axin, APC, DSK3

A

Work to degrade b-care in

60
Q

Dsh=Axin

A

Bind onto wnt-bound receptor

B-catenin lives on

61
Q

Gro

A

Inhibits b-catenin in wnt pathway

62
Q

PP2A

A

Takes P off of B catenin

63
Q

BTrCP

A

Proteosome for B catenin

64
Q

C-kit receptor

A

Expressed in neural crest cells

Follows steel ligand

65
Q

C-ret

A

Expressed by NCC in the gut

Follows GDNF

66
Q

T box genes

A

Encode TF’s in NC cells

67
Q

Cancer contact inhibition

A

Cancer cells secrete metalloproteases that degrade the ECM and free up the cell to move

68
Q

Caretaker genes

A

Prevent or repair DNA damage

MLH, ERCC1, BRCA1

69
Q

Gatekeeper genes

A

Restrain division, induce apoptosis

P53

70
Q

Rb

A

Inhibits G1/S transition by inhibiting E2F

71
Q

P14ARF

A

Binds MDM2, which will stabilize p53

72
Q

Oncogenic mutations

A

Dominant-gain of function

Recessive-loss of function

73
Q

TGF and replication

A

Leads to a pathway that gives CDK inhibitor

74
Q

Activation of oncogene examples

A

C-Myc: overproduction due to replication/translocation
C-abl: mutation provides self activation
C-ras: mutations prevent inactivation

FINAL Biomedical Sciences (15 decks)

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