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Genetics > Genetics Final > Flashcards

Genetics Final Flashcards

1
Q

Fragile X

A

CGG repeeat X chromosomeon FMR1 gene, X

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2
Q

what is the most common inherited form of mental retardation

A

Fragile X: through female meiosis

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3
Q

What happens with XYY

A

47XYY,Kleinfelters: men, hypogonadism, ,tall, broader hips

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4
Q

Kleinfelters

A

47XXY: hypogonadism, tall, weak bones

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5
Q

How is chromatin regulated

A

Methylation, acetylation, phosphate

Methylation downregulates transcription

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6
Q

Histones

A

Wrap up DNA, down regulate transcription if methylated

Upregulated if acetylation

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7
Q

Introns and exons

A

mature transcrips can be shuffled and combined to make different proteins with different products

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8
Q

What is important about CGGC sequence

A

Where methylation happen on DNA:

CpG islands: promoter retions

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9
Q

Sex with Fragile X

A

Male

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10
Q

Protooncogenes

A

normal genes that regulate cell growth and differentiate when mutated incraseing growth

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11
Q

How do oncogenes cause cancer

A

changing cell growth and differentiateion, stimulate cell cycle

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12
Q

How much mutation to change tumor supressor gene

A

Two hit process, 2 allells

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13
Q

Oncogene with 2 hits, what happens

A

No longer supres tumors although they are tumor supressor genes

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14
Q

how are locations of modification marked on epigenetic map

A

marked by number of histones and methylations in certain region

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15
Q

proximity and gene linkage

A

closer they are on gene the more likly they will be inherited together, less likly to be cross linked

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16
Q

RFLP: Restriction Fragment Length Polymorphism

A

Presence or absenc of a restriction site that produces DNA fragments of varying lengths, reflecting sequence variation

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17
Q

VNTR: Variable number of tandem repeats

A

Varying number of minisatellite repeats in specific retion of chromosome. Repeat flanked by restriction site. 20-70 bases

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18
Q

STRP: Short tandem repeat polymorpthism

A

Microsatellites, repeated unit 2-6basees.

Used in Paternity testing and may be amplifed in PCR

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19
Q

SNP, single nucleotide polymopphism

A

sigle difference in a nucleotid sequenc. , 10-60 nuclotides.

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20
Q

what are the 4 types of polymorophism

A

RFLP: fragments’
VNTR: repeats larger
STRP: small repeats
SNP: middle repeats

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21
Q

Why are VNTR: variable number tandem repeats important?

A

paternity testing, forensics, GENETIC fingerprinting

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22
Q

anniocentesis

A

test for prenatal genetic diagnosis: signle gene disorders, chromosomal abnormalities and some biochemical disorders

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23
Q

when amniocentesis

A

16 weeks

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24
Q

risk of fetal demisee

A

0.5% CVS is 1%

25
Q

Where is BRCA1 expressed

A

Chromosome 17, Region 2, band 1

26
Q

what is BRCA1 supposed to do?

A

repair double strand breaks in DNA or destroying cells that cant repair. When broken it increases cancer risk

27
Q

where is BRCA1 expressed

A

Mamillary cells, and interacts wit hRAD51

28
Q

What is it called with BRA1 and 2 mutations

A

hereditary breast ovarian cancer syndrome

29
Q

why gene therapy failed

A

short lived, rapidly dividing dells
immune response could kill you
Viral vector toxicity
multi gene disorders .

30
Q

what is RANi:

A

Interference RNA: inhibits gene expression or translation by neutralizing targeted mRNA

31
Q

what is Rani used for

A

moderates gene activity, , co supresison, post transcriptional gene silencing and quelling
role in defending against parasitic and viral sequences

32
Q

Why is RNAi a big deal

A

because it means DNA isn’t the only form of inheritance. can be used to shut down each gene, Knock down studies.

33
Q

What stages can gene expression be manipulated

A

Chromatin: histone methylation/acetylation
Transcription-promoters, exon shuffel
translationa stage: RNA transport
Post translationas control: into cytoplam
Post translational modifiction: fold, cut, phosphorlya

34
Q

what is population genetics

A

study of allel frequency distribution under the influence of the four main evolutionary processes
Natural selection, genetic drift, mutation, gene flow,

35
Q

allel frequency change = what

A

evolution

36
Q

WHy is RNI importaint, key

A

role in defending against parasitic and viral sequencing

37
Q

Natural selection

A

increase frequency ofallels that promote survial or fertility and reduce the frequency of allels that cause disease

38
Q

Genetic drift

A

change in allel freq in population due to random chance, not environmental or adaptive pressures. good bad or indifferent

39
Q

Mutation

A

70% are harmful,

40
Q

founder effect

A

novel genes are produced through duplication and mutation of and ancestral gene

41
Q

Hardy weinberg equilibrium?

A

stability of allel frequencies over thime and how variation is maintained in Mendelian genetics

42
Q

whay is hardy weinberg important

A

allows us to describe the state without effects of the above noted influcens, then assess effects of said influcees: natural selection, mutation, migration, gene flow, genetic drift

43
Q

karyotype of Turner syndrome

A

45x, 46XX, 47XXX

44
Q

what is turner syndrome?

A

only monosomy consistent with life that results in short stature and ovarian dysgenesis (not autosomal)

45
Q

BRCA risk 50

A

50%

46
Q

BRCA risk 70

A

87%

47
Q

BRCA1 female by 70

A

57-87%

48
Q

Homozygus for BRCA-2

A

fanconi Anemia: AML by 40years.

congenital deformitis, endocrine abn, short stature, and developmental disabilities

49
Q

BRCA 1 risks

A

Breast cancer: 57-87%

Ovarian: 39-40%

50
Q

BRCA 2 risks

A

Breast: 45-84%

ovarian : 11-18%

51
Q

what is the risk for prostate CA and breast CA for men?

A

Prostate 15%

breast 6.8%

52
Q

what other cancers are a risk for BRCA 1 or 2

A

galbladder, pancreas, bile duct, stomach, fallopian tube, leukemia, lymphoma

53
Q

Marke Colon

A

CEA

54
Q

Marker Liver

A

AFP: alpha fetal protein

55
Q

Pancreatic marker

A

CA 19-9

56
Q

Ovarian marker

A

CA 125

57
Q

testicular marker

A

Beta HCG

58
Q

Prostate marker

A

PSA

59
Q

Breast cancer marke

A

BRCA1/2

Genetics (2 decks)

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