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Mol / Cel Biology > Lecrture 6 > Flashcards

Lecrture 6 Flashcards

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1
Q

What is a locus?

A

The chromosome location of a specific gene

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2
Q

What is a allele?

A

The different forms of a gene or DNA sequence

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3
Q

What is a gene?

A

= Sequence of DNA or RNA that contains a code for one protein or RNA molecule

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4
Q

Homozygote?

A

two alleles at the locus are the same

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5
Q

Heterozygote?

A

Two different alleles at the locus

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6
Q

Hemizygote?

A

unpaired genes in an otherwise diploid cell

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7
Q

What types consists of most of the allele types?

A

Wild-types

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8
Q

What are allele variants?

A

Different from the wild-type due to permanent changes in nucleotide sequence or arrangement in DNA sequence

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9
Q

What is mutation?

A

A process! All genetic variation originates from the process known as mutation, which lead to alteration in human genome

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10
Q

Alterations in human genome can be observed in which two levels?

A

Chromosomal aberrations ( numerical and structural )
or
Alteration of DNA sequence

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11
Q

Errors in DNA replication? (DNA polymerase)

A

DNA polymerase can add wrong nucleotides.

But it has a proof reading activity, so it can check the mistakes

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12
Q

What is exonuclease activity?

A

DNA polymerase moves back, deletes wrong ones, add new nucleotides

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13
Q

Errors in DNA replication? (slippage)

A 
Repeated units (microsatellites) of DNA sequence may result in replication slippage
Can add extra repeate to the strand -> one new molecule with additional unit
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14
Q

What is DNA reparation?

A

if DNA polymerase cant correct the mistake, miss match repair comes to a place -> recombination repair

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15
Q

Errors in recombination during the cell division

Error in cell division, structure or chromosomal number changes

A

Yepyep

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16
Q

Induced process of mutation by environmental factors example?

A

Physical
Chemical
Biologocal – transposons, viruses: duplication or position change of a sequence

17
Q

Base substitutions?

Alteration of DNA sequence: Type of allelic variants and their consequences

A

Substitutions within coding

18
Q

Missenses?

Alteration of DNA sequence: Type of allelic variants and their consequences

A

Single nucleotide substitution in coding region, which alters the genetic code BY:
Nonsynonymous replacement of one amino acid.

Example TGG Trp instead of the widtype that has CGG Arg

19
Q

Silent?

Alteration of DNA sequence: Type of allelic variants and their consequences

A

Single nucleotide substitution in coding region, which alters the genetic code BY:
synonymous replacement of one amino acid

20
Q

Nonsense?

Alteration of DNA sequence: Type of allelic variants and their consequences

A

Single nucleotide substitution in coding region, which alters the genetic code by producing one of the three stop codons in the mRNA

21
Q

Affecting RNA transcription?

A

occurs at exon-intron or intron-exon boundaries, alter the splicing signal that is necessary for proper excision of an intron

22
Q

Deletions?

A

loss of one or more base pairs

23
Q

Insertions?

A

Insertion of one or more base pairs

24
Q

Insertions of mobile elements?

A

insertion of a LINE and SINE repeats -> frame shifts

25
Q

Dinamic mutation?

A

more simple nucleotide sequences repeated -> next generation gets more repeates

26
Q

Gain-of-function?

Consequences of allelic variants in functional level

A

variants lead to a completely new protein product, with new function or over expression, or inappropriate expression

27
Q

Loss of function?

Consequences of allelic variants in functional level

A

loss of gene product activity

28
Q

Dominant negative?

Consequences of allelic variants in functional level

A

abnormal protein interferes with the wild-type protein product and inhibit its function

29
Q

Aneuploidy?

Numerical abberration

A
  • loss or gain of one chromosome (2n -1 or 2n +1)
  • Missegredation of a chromosome pair during Cell division
  • Changes during germ cell division are responsible for conditions such as trisomy 21
  • Chromosomal aneuploidy are the most common changes seen in humans
  • Rate of abberration is one per 25-50 cell cycles
30
Q

Polyploidy?

Numerical abberration

A
  • Europloidy – n – complete set of chromosomes
  • Polyploidy – 3n – (triploidy = 69 chromosomes), 4n – (tetraploidy = 92 chromosomes)
  • Failure in meiotic or mitotic cell division
31
Q

Rearrangement of structure or regional organisation of chromosomes can be?

(Structural abberration)

A

Unbalanced – loss of gain or genetic material

Balanced – might be harmful in cell division phase

32
Q

Deletion? (Chromosome breakage)

Structural abberration

A

chromosome break and loses genetic material

  • loss of chromosome’s tip = terminal deletion
  • two breaks = interstitial deletion
  • Deletion in both tips = ring chromosome
33
Q

Translocation? (Chromosome breakage)

Structural abberration

A

interchange of genetic material between non-homologous chromosomes

  • resulting chromosomes are called derivative chromosomes
  • Types of translocations – reciprocal and robertsonian
34
Q

Inversion? (Chromosome breakage)

Structural abberration

A

result of two breaks on a chromosome followed by the re-insertion of the intervening fragment at its original site but inverted by 180-degree
- inversion including centromere = pericentric invertion

35
Q

Duplication? (Chromosome breakage)

Structural abberration

A

gain of genetic material

- less serious consequences than deletions

Mol / Cel Biology (17 decks)

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