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SFM > Genetics > Flashcards

Genetics Flashcards

1
Q

Homologous chromosome vs. sister chromatid

A

Homologous chromosome is made up of two sister chromatid

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2
Q

Co-dominance

A

Alleles that are not fully dominant or recessive (show phenotype of both parents)

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3
Q

Incomplete dominance

A

Alleles where the phenotypes mix (blue+green =yellow)

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4
Q

Lyonization

A

One X chromosome is inactive

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5
Q

Mosiacism

A

Different cells within the same organism that have a different genotype

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6
Q

Variable expressivity

A

Genotypescan present differently in individuals

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7
Q

Anticipation

A

A mutation progressively gets worse every generation (ex. Huntingtons disease)

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8
Q

Pleiotropy

A

One gene effects several different phenotypes

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9
Q

Locus heterogenity

A

Various different types of mutation can result in the same phenotype

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10
Q

Aneuploidy

A

Nondisjunction

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11
Q

Genomic imprinting

A

Normal occurence where one allele/gene is imprinted (turned off)
- if the non-imprinted gene is mutated then will lead to disease b/c no other normal allele

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12
Q

Thalassemia

A

Underproduction of Hb due to mutation

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13
Q

Methemoglobinemia

A

Cannot bind heme due to mutation

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14
Q

X-linked recessive

A

100% penetrance in sons, females are often carriers

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15
Q

X-linked dominant

A

If father has it he will pass it on to ALL of his daughters

  • father -> son not possible
  • mother will pass it on 50% of the time
  • those with the trait are often infertile -> rare disease
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16
Q

Leber hereditary optic neuropathy

A

MtDNA mutation -> complex 1 less active

Acute vision loss

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17
Q

Myoclonic epilepsy and ragged red fibers

A

MtDNA mutation disrupting cyto-c oxidase ]

Causes ataxia and seizures

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18
Q

Mito encephalopathy, lactic acidosis and stroke-like activity

A

MtDNA mutation causing disruption of complex 1 and cyto-c oxidase
Headaches, seizures, vomiting, hemiparesis

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19
Q

Key step of meiosis 1

A

Homologous chromosomes separate (haploid product)

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20
Q

Key feature of meiosis 2

A

Sister chromatids separate (diploid product)

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21
Q

DNA content in G1

A

2N

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22
Q

DNA content in G2 and M

A

4n

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23
Q

DNA content in cytokinesis

A

2N

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24
Q

Labile cell types

A

Never enter G0 and are constantly dividing (skin, hair)

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25
Q

How many H bonds between DNA and histone octamer in each nucleosome

A

142

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26
Q

What AAs are most common in histone proteins

A

Lys and Arg (+ charges attracted to - charged DNA backbone)

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27
Q

Euchromatin features

A

Most active part of the genome

usually undergoing transcription

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28
Q

Key features of heterochromatin

A

Highly condensed
Considered genetically inactive
Highly concentrated at centromere and telomere
The only active genes it has are resistant to expression

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29
Q

Position effect of genes

A

Genes that are positioned near heterochromatin will be silenced

30
Q

Histone Acetytransferase

A

Acts on Lys residues, causes DNA to uncoil

31
Q

Histone deacetylase

A

Most common in H4, causes DNA to condense and coil

32
Q

Histone methyl transferase

A

Addition of methyl group to cytosine residue to essentially silence the gene (common in H3)

33
Q

DNA polymerase A

A

Synthesizes DNA/RNA primer

34
Q

DNA poly gamma and delta

A

Synthesize leading strand in 5’ - 3’ dxn

35
Q

Flap Endonuclease 1

A

Removes RNA primers

36
Q

DNA poly epsilon

A

Fills in gaps to repair DNA

37
Q

Ara-C

A

Converted into ara-CTP which inhibits DNA poly

38
Q

Acylclovir

A

Arrest Herpes virus DNA synthesis

39
Q

Azidothymidine

A

Arrests HIV DNA synthesis

40
Q

Ionizing Radiation

A

Causes direct strand breaks and form DNA cross-links

41
Q

Non-ionizing radiation (UV light)

A

Covalent linkage between pyrimidine bases forming dimers

- p53 has these mutations which can form basal and a=squamos cell carcinoma

42
Q

Burnt meat

A

Benzaprene converted to BPDE in colon which intercalates with guanine

43
Q

Nucleotide excision repair

A

repairs chemical adducts that distort DNA

44
Q

Mismatch excision repair

A

Repairs mismatched base in newly formed daughter strand

45
Q

Recombination repair

A

Repairs 2x-strand breaks and interstrand crosslinking

46
Q

Transition coupled repair

A

Repair stalled RNA poly during transcription

47
Q

Xeroderma Pigmentosum

A

Cause: UV caused thymine dimers which are normally corrected by NER but XP proteins in this are defective
Symptoms: Sensitive to sunlight and have high rate of melanomas

48
Q

Hereditary nonpolyposis colorectal cancer

A

Cause: mutations in gene that encode for MER (mutation in 1 allele is moderate risk for tumors, both alleles = extreme risk)

49
Q

Cockayne Syndrome

A

Cause: defect in transcription-coupled repair so RNA poly is permanently stalled at sites of damage
Symptoms: growth retardation, skeletal abnormalities and sensitivity to sunlight

50
Q

Common beginning and ending NTs in introns

A

Beginning GT

End AG

51
Q

DNA synthesis continous or discontinuous on lagging strand

A

Discontinous (okazaki fragments)

52
Q

Single-stranded DNA-binding protein

A

Helps stabilize the unwound DNA and prevents formation of hairpins

53
Q

Topoisomerase

A

Relieves overwound DNA supercoils (common site for anti cancer agents)

54
Q

BRCA associated breast cancer

A

Mutation causes defect in repair by homologous recombination

55
Q

Fanconi anemia groups A-G

A

Repaired by DNA interstrand cross-link repair

56
Q

Function of gene promoter CpG islands

A

Site for hypermethylation to shut down gene transcription

57
Q

SUMOylation

A

SENPs activate sumo to attach to E1, E2, E3 via ATP hydrolysis
- activated by stress will lead to ubiquitanation

58
Q

Ubiquitination

A

Response to stress, differentiation etc

Attached to the lysine residues for degradation

59
Q

Uniparental disomy

A

Two chromosomes inherited from same parent so will parent-specific imprinting (trisomy)

60
Q

Prader-Willi syndrome

A

Paternal deletion

Symptoms: short, hypotonia, small hands/feet, obesity , uncontrolled eating

61
Q

Angelman syndrome

A

Maternal deletion in c15

Symptoms: intellectual diability, seizures, ataxic gait

62
Q

Klinefelter Syndrome

A

47 xxy
Cognitive and social disabiliites
Hypogonadism, gynecomastia, infertile

63
Q

Down Syndrome

A

47 XX +21
Increased chance with increased age of mother
Cognitive impairment
Cardiac defects, duodenal atresia, gap in fingers, absent nasal bone

64
Q

Edwards Syndrome

A

47 XX +18
Most die in utero
Microencephaly, prominent occiput (back of head), cleft lip, overlapped fingers

65
Q

Patau Syndrome

A

47, XX +13
Heart abnormalities, kidney malformation, CNS dysfunction
Microcephaly, closely spaced/absent eyes, clenched hands, polydactyl (extra finger)

66
Q

Depurination

A

Adenine and guanine are cut out of DNA strand

67
Q

Turner Syndrome

A

45 XO
Monsomy X
Ovarion hypofunction, short, no puberty, infertile
No cognitive disabilities

68
Q

Retinoblastoma

A

Auto Dom

90% penetrance

69
Q

Marfan Syndrome

A

Has variable expressivity
Deficiency: Fibrillin buildup from FBN-1 mutation
Clinical: Connective tissue malfunction (lens, aorta, joints)

70
Q

Osteogeneis Imperfecta Syndrome

A

Locus heterogeneity
Mutation in C7 or C17 can cause brittle bone disease
Collagen genes prevent proper collagen assembly

71
Q

Pyloric stenosis

A

Muscular hypertrophy between stomach and duodenum
More common in males b/c need less genetic risk genes
B/c females have less chance of getting it they pass it on more frequently to their sons

SFM (4 decks)

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