Genomics Flashcards

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1
Q

How many coding genes are there?

A

20,499

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2
Q

How many non-coding genes are there?

A

23,992

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3
Q

How many short variants are there ?

A

678 million

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4
Q

How many structural variants are there?

A

6 million

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5
Q

percentage of the protein coding genes?

A

1.2%

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6
Q

Recombination is higher in -

A

Females

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7
Q

Point Mutations are higher in meiosis in -

A

Males

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8
Q

Percentage of repeats

A

46%

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9
Q

how many human genes originate from bacteria by HGT ?

A

145

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10
Q

percentage of genome originating from retroviruses?

A

8%

More than the coding 1.2%

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11
Q

Largest gene

A

DMD - Dystrophin

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12
Q

Longest coding sequence

A

TTN - Titin

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13
Q

Longest exon

A

TTN - Titin

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14
Q

Gene richest chromosome

A

19

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15
Q

Gene Poorest chromosome

A

Y

also poor are 13, 18 - trisomy leads to patao and edwards

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16
Q

Genes derived from common ancestral genes and have diverged from the parent copy by mutation and selection or drift -

A

Paralogous Genes

17
Q

Genes with same function in different species -

A

Ortologous Genes

18
Q

Dysfunctional relatives of genes that have lost their protein coding ability

A

Pseudogenes

19
Q

Pseudogenes can regulate gene expression by means of:

A

decreasing the mRNA stability, SiRNA or competitiveness.

20
Q

CpG Islands occurs when in a 200 bp region the n observed-to-expected CpG ratio is greater than __%.

A

CpG Islands occurs when in a 200 bp region the n observed-to-expected CpG ratio is greater than 60%.

21
Q

In terminaly differentiated cells up to 90% of genome CpG sites are -

A

methylated

22
Q

How many imprinted genes are there ?

A

> 100

23
Q

Difference between two genomes ?

A

0.5%

24
Q

Genetic diversity is higher in _____ than in europe.

A

Africa

25
Q

Every person carries mutations that inactivate at least 1 copy of ___ genes and both copy of __ genes.

A

Every person carries mutations that inactivate at least 1 copy of 200 genes and both copy of 20 genes.

26
Q

Beneficial to knockout genes (2 EXAMPLES)

A

CCR5 - chemokine receptors

FUT2 - required for norovirus infection

27
Q

knockout genes in human increase the risk of genetic diseases in -

A

consanguineous marriages

28
Q

Functional elements in the genome:

A
  1. Protein coding
  2. RNA coding
  3. Promoter regions
  4. Enhancer Regions
  5. Long range chromatin interactions
  6. Methylated areas
  7. Histone modification
29
Q

essential precentage of the functioning genome?

A

9%

30
Q

In obesity the strongest association is in ____ 1 and 2 of FTO gene - leading to regulation of _____

A

In obesity the strongest association is in Introns 1 and 2 of FTO gene - leading to regulation of IRX3/5

31
Q

Piwi-interacting RNA (piRNA)

A

post transcriptional silencing of transposons

32
Q

Transcription in mammals is -

A

Discontinuous

33
Q

why many of the genes show Monoallelic expression? (MAE happens in 15% of genes)

A

Heterozygous advantage - reduce susceptibility for infections