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Genetics > 1. Introduction > Flashcards

1. Introduction Flashcards

1
Q

Length og DNA

A

2m/nucleus

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2
Q

Difference between human and chimpanzee genomes

A

Only 4%

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3
Q

Homolog

A

DNA sequence from common ancestral gene

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4
Q

Ortholog

A

Genes in different species that evolved from a common ancestral gene by speciation. Normally, orthologs retain the same function in the course of evolution

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5
Q

Paralog

A

Generated by duplication within the same genome, may gain new functions

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6
Q

How similar is the genome of two individuals?

A

99.5% identity

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7
Q

Definition of CpG islands

A
  • Regions of DNA of at least 200 bp in length
  • G+C content >50%
  • A ratio of observed vs. expected CpGs close to or >0.6
  • (Cytosine, phosphodiester bond, guanine)
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8
Q

CpG islands found in or near approximately 40% of….. of mammalian genes

A

Promoters

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9
Q

Amount of DNA in somatic cells differ based on..?

A
  • Presence and number of nuclei

- Different stages of cell cycle

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10
Q

Is the DNA sequence identical in all somatic cells?

A

No, in T cells and B cells it is different (somatic gene rearrangement)

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11
Q

DNA encodes for

A
  • RNA and proteins

- Lipids and carbohydrates are non-templated

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12
Q

Genome

A

The complete genetic material of the cell

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13
Q

Genetics

A

Science focusing on individual genes, the inheritance and variability

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14
Q

Genomics

A

Science focusing on the entire genome and the interaction of genes

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15
Q

Epigenetics

A

Science focusing on inherited, however not DNA sequence encoded changes of gene expression
(The study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself)

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16
Q

The active strand that participates in transcription of mRNA

A

Antisense or non-coding strand. Transcribes the sense mRNA

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17
Q

The nucleosome consist of

A

8 histone molecules + 146 nucleotide pairs of DNA

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18
Q

Gene

A

The unit of inheritance, part of DNA or RNA

19
Q

Locus

A

Location of a given gene on a chromosome

20
Q

Allele

A

Gene variant at a given locus

21
Q

Wild type allele

A

The most frequent variant of a given gene in nature

22
Q

Genotype

A

Genetic composition characteristic for an individual or a locus

23
Q

Phenotype

A

Measurable and observable features of a cell or an individual

24
Q

Homozygote

A

Identical alleles at the same loci of the chromosome pair

25
Q

Heterozygote

A

Different alleles at the same loci of the chromosome pair

26
Q

Hemizygote

A

Carries only a single copy of the gene

27
Q

Dominant allele

A

A gene variant that phenotypically always results in a given characteristic (even in heterozygotes)

28
Q

Recessive allele

A

A gene variant that manifests phenotypically in a homo- and hemizygotes only

29
Q

Ploidy

A

Refers to the number of homologues chromosomes of a cell

30
Q

Haploid

A

A cell containing a single set of chromosomes

31
Q

Diploid

A

A cell containing two sets of chromosomes

32
Q

Mendels laws

A
  1. Law of uniformity
  2. Law of segregation
  3. Law of independent assortment
33
Q

Law of uniformity

A

All F1 generation plants produce e.g. yellow-round seeds

34
Q

Law of segregation

A

The two alleles for each gene separate during gamete formation

35
Q

Law of independent assortment

A

Alleles of genes on nonhomologous chromosomes assort independently during gamete formation

36
Q

Nuclear DNA is inherited from … while mitochondrial DNA is inherited from …

A

All ancestors, a single lineage (mother)

37
Q

Repetitive sequences in the human genome (4)

A
  1. Long interspersed elements (LINE) (autonomous)
  2. Short interspersed elements (SINE) (non-autonomous)
  3. Retrovirus-like elements (LTR transposons)
  4. DNA transposons
38
Q

SNV (Single nucleotide variant)

A

A variation in a single nucleotide without any limitations of frequency.

39
Q

1 DNA molecule is built up of..

A

2 polynucleotide chains

40
Q

How many base pairs is there in a human somatic cell?

A

2x 3x10^9 (diploid)

41
Q

Interphase consists of.. and DNA is in what form?

A

G1, S, G2. DNA: chromatin

42
Q

What happens in M phase

A

Cell division, DNA in chromosome form

43
Q

1 sister chromatid is how many DNA molecules?

A

1 DNA molecule

44
Q

The genetic code (6 features)

A
  1. Consists of triplets
  2. Degenerated (redundant)
  3. Comma-free, non-overlapping
  4. Almost completely unicersal
  5. Wobble effect
  6. Unambiguous

Genetics (17 decks)

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