Molecular basis of inheritance Flashcards

1
Q

What is the difference between a deoxyribonucleotide and a ribonucleotide?

A

The presence of an -OH at the 2’ carbon

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2
Q

What are the purines?

A

Guanine and adenine

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3
Q

What is a purine?

A

Nucleotide with 9 atoms in its ring such as guanine and adenine (the ones with ‘nine’)

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4
Q

What are the pyrimidines?

A

Thymine and cytosine

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5
Q

What is a pyrimidine?

A

Nucleotide with 6 atoms in its ring such as thymine and cytosine (the ones without ‘nine’)

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6
Q

What is dATP?

A

Deoxyadenosine triphosphate (sugar has only one -OH group)

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7
Q

How do nucleotides join together to form a polynucleotide?

A

2 phosphate groups are lost from each nucleotides - phosphodiester bonds form between nucleotides.

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8
Q

SINES

A

Short interspersed elements

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9
Q

LINES

A

Long interspersed elements

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10
Q

What does ncRNA do?

A

Non-coding RNA can control exon splicing and decoding of mRNA

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11
Q

What does snRNA do?

A

Small nuclear RNA forms complexes with proteins to form small nuclear ribonucleoprotein particles (snRNPs) which splice pre-mRNAs

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12
Q

What are snRNPs?

A

Small nuclear ribonuclearprotein particles, splice pre-mRNAs.

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13
Q

2 Examples of X-linked recessive disorders that reveal X-inactivation

A

Anhydrotic ectodermal dysplasia, random patches of tissues w/o sweat glands
Red/green colour blindness, mosaic retinas

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14
Q

What is anhydrotic ectodermal dysplasia

A

Random patches of tissues w/o sweat glands

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15
Q

What is the name of the condition where there are random patches of tissues w/o sweat glands?

A

Anhydrotic ectodermal dysplasia

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16
Q

What does the Xist gene do?

A

Dosage compensation - inactivates one of the X chromosomes by supercondensation to prevent transcription

17
Q

What is miRNA

A

MicroRNA, regulates expression of specific genes.
Transcription of miRNA gives hairpin precursor; exported to cytoplasm where nuclease cuts off loop, two single strands formed. They pair w/ coding mRNA causing translational repression

18
Q

What are some examples of miRNA disorders?

A
miR-96 = hereditary progressive hearing loss
miR-184 = EDICT, degenerative eye disorder
19
Q

What is miR-96

A

Hereditary progressive hearing loss

20
Q

What is miR-184

A

EDICT, degenerative eye disorder

21
Q

What are some examples of mitochondrial disorders?

A
LHON = Leber's hereditary optic neuropathy
MELAS = mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
22
Q

What is MELAS

A

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

23
Q

What is LHON

A

Leber’s hereditary optic neuropathy