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Genetics Flashcards

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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
How many H bonds between DNA and histone octamer in each nucleosome
142
26
What AAs are most common in histone proteins
Lys and Arg (+ charges attracted to - charged DNA backbone)
27
Euchromatin features
Most active part of the genome | usually undergoing transcription
28
Key features of heterochromatin
Highly condensed Considered genetically inactive Highly concentrated at centromere and telomere The only active genes it has are resistant to expression
29
Position effect of genes
Genes that are positioned near heterochromatin will be silenced
30
Histone Acetytransferase
Acts on Lys residues, causes DNA to uncoil
31
Histone deacetylase
Most common in H4, causes DNA to condense and coil
32
Histone methyl transferase
Addition of methyl group to cytosine residue to essentially silence the gene (common in H3)
33
DNA polymerase A
Synthesizes DNA/RNA primer
34
DNA poly gamma and delta
Synthesize leading strand in 5’ - 3’ dxn
35
Flap Endonuclease 1
Removes RNA primers
36
DNA poly epsilon
Fills in gaps to repair DNA
37
Ara-C
Converted into ara-CTP which inhibits DNA poly
38
Acylclovir
Arrest Herpes virus DNA synthesis
39
Azidothymidine
Arrests HIV DNA synthesis
40
Ionizing Radiation
Causes direct strand breaks and form DNA cross-links
41
Non-ionizing radiation (UV light)
Covalent linkage between pyrimidine bases forming dimers | - p53 has these mutations which can form basal and a=squamos cell carcinoma
42
Burnt meat
Benzaprene converted to BPDE in colon which intercalates with guanine
43
Nucleotide excision repair
repairs chemical adducts that distort DNA
44
Mismatch excision repair
Repairs mismatched base in newly formed daughter strand
45
Recombination repair
Repairs 2x-strand breaks and interstrand crosslinking
46
Transition coupled repair
Repair stalled RNA poly during transcription
47
Xeroderma Pigmentosum
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
Hereditary nonpolyposis colorectal cancer
Cause: mutations in gene that encode for MER (mutation in 1 allele is moderate risk for tumors, both alleles = extreme risk)
49
Cockayne Syndrome
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
Common beginning and ending NTs in introns
Beginning GT | End AG
51
DNA synthesis continous or discontinuous on lagging strand
Discontinous (okazaki fragments)
52
Single-stranded DNA-binding protein
Helps stabilize the unwound DNA and prevents formation of hairpins
53
Topoisomerase
Relieves overwound DNA supercoils (common site for anti cancer agents)
54
BRCA associated breast cancer
Mutation causes defect in repair by homologous recombination
55
Fanconi anemia groups A-G
Repaired by DNA interstrand cross-link repair
56
Function of gene promoter CpG islands
Site for hypermethylation to shut down gene transcription
57
SUMOylation
SENPs activate sumo to attach to E1, E2, E3 via ATP hydrolysis - activated by stress will lead to ubiquitanation
58
Ubiquitination
Response to stress, differentiation etc | Attached to the lysine residues for degradation
59
Uniparental disomy
Two chromosomes inherited from same parent so will parent-specific imprinting (trisomy)
60
Prader-Willi syndrome
Paternal deletion | Symptoms: short, hypotonia, small hands/feet, obesity , uncontrolled eating
61
Angelman syndrome
Maternal deletion in c15 | Symptoms: intellectual diability, seizures, ataxic gait
62
Klinefelter Syndrome
47 xxy Cognitive and social disabiliites Hypogonadism, gynecomastia, infertile
63
Down Syndrome
47 XX +21 Increased chance with increased age of mother Cognitive impairment Cardiac defects, duodenal atresia, gap in fingers, absent nasal bone
64
Edwards Syndrome
47 XX +18 Most die in utero Microencephaly, prominent occiput (back of head), cleft lip, overlapped fingers
65
Patau Syndrome
47, XX +13 Heart abnormalities, kidney malformation, CNS dysfunction Microcephaly, closely spaced/absent eyes, clenched hands, polydactyl (extra finger)
66
Depurination
Adenine and guanine are cut out of DNA strand
67
Turner Syndrome
45 XO Monsomy X Ovarion hypofunction, short, no puberty, infertile No cognitive disabilities
68
Retinoblastoma
Auto Dom | 90% penetrance
69
Marfan Syndrome
Has variable expressivity Deficiency: Fibrillin buildup from FBN-1 mutation Clinical: Connective tissue malfunction (lens, aorta, joints)
70
Osteogeneis Imperfecta Syndrome
Locus heterogeneity Mutation in C7 or C17 can cause brittle bone disease Collagen genes prevent proper collagen assembly
71
Pyloric stenosis
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

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