Genome Organization Flashcards

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1
Q

Human genome is distributed on ____________

A

46 Chromosomes

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2
Q

Genotype + ______________= phenotype

A

Environment

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3
Q

There are _________ new mutations that occur in each individual.

A

30

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4
Q

Chromosome _______ is gene rich

A

19

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5
Q

Chromosomes ___, ___ and ____ are gene poor.

A

13, 18, and 21

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6
Q

______ of the genome is GC-rich.

A

38% of the genome

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7
Q

_______ is AT rich

A

54% percent

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8
Q

Clustering of _____ and ______ regions is the basis form chromosomal banding patterns

A

GC-rich/ AT-rich

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9
Q

Heterochromatic regions are more condensed and ___________

A

More repeat-rich

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10
Q

_________ % of the genome is translated

A

1.5%

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11
Q

Alpha-satellite repeats are found near the __________ region and important in chromosomal segregation; critical for attachment of chromosomes to microtubules of the spindle apparatus during cell division.

A

Centromeric

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12
Q

The dispersed relative elements include the __________ and the _____________ and can cause insertional inactivation of genes or abberant recombination events

A

Alu (short intersperse receptive elements) and L1 family (long interspersed receptive elements)

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13
Q

What are the four types of DNA variation?

A
  1. Minisatellites 2. Microsatellites, 3. Single Nucleotide Polymorphisms 4. Copy number variations
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14
Q

Genes often exist in families and arrive by gene _________ where one gene duplicates, freeing up one copy to vary while the other copy continues to carry out critical function.

A

Gene duplication

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15
Q

___________ are non functional. They may contain introns or could be intron-less if reverse transcriptase is used.

A

Psuedogenes

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16
Q

54% of genome is __________ and 38% is _________

A

AT rich and GC rich

17
Q

_____________ are enriched with specific duplication, sequence gaps and associated with recurrent disease.

A

Copy Number Variants

18
Q

Gene families have ____________ common sequences

A

85%-90%