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Medical Genetics > Why Study Medical Genetics > Flashcards

Why Study Medical Genetics Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

What is the goal of the human genome project

A

Determine the sequence is a chemical base pairs which make up DNA

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2
Q

What is a genome

A

All the DNA in an organism

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3
Q

What are the four types of genetic disease disorders

A

Chromosome, single gene, multi factorial, mitochondria

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4
Q

What do all genetic diseases involve?

A

Cellular defects

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5
Q

What is chromatin

A

A combination of DNA and histones that gives the nucleus a granular appearance

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6
Q

What are chromosomes

A

Condensed chromatin that form dark staining bodies

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7
Q

What are genes

A

The basic unit of inheritance made of DNA that provide the blueprint for all proteins in the body

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8
Q

Transcription in a nutshell

A

RNA is synthesized from a DNA template by RNA polymerase. This forms mRNA

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9
Q

Where does transcription occur

A

Nucleus

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10
Q

Where does translation occur

A

Cytoplasm

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11
Q

Where are introns spliced out at in the cell

A

Nucleus

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12
Q

Translation in a nutshell

A

RNA synthesizes a polypeptide by interacting with tRNA

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13
Q

Is the codon or anti-codon on the tRNA

A

Anti-codon

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14
Q

Is the codon or anti-codon on the mRNA

A

Codon

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15
Q

Our purines double or single carbon nitrogen ringed

A

Double

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16
Q

What is the key to accurate DNA replication

A

Complementary base pairing

17
Q

What Does the uracil replace in RNA

A

Thymine

18
Q

What are the three stop codons

A

UAA, UGA, UAG

19
Q

What do housekeeping genes do

A

Encode products that are required for some maintenance and metabolism

20
Q

What must you have in order to go from DNA to mRNA

A

Transcription factors

21
Q

What are DNA binding motifs

A

Configurations that allow the transcription factor to buy into a unique portion of the DNA helix

22
Q

Because mRNA cannot bind directly to amino acids what do you need?

A

TRNA

23
Q

And tRNA what are on the two opposite ends

A

Attachment for covalent bond and a three prime end and anti-codon on the other end

24
Q

What does rRNA do

A

Find mRNA and tRNA to the ribosome

25
Q

What are post translational modification’s

A

Chemical changes that occur shortly after proteins are translated

26
Q

What is a karyotype

A

Ordered display of chromosomes; number and type of chromosomes present in an individual

27
Q

What is a karyogram

A

Printed display of chromosomes

Medical Genetics (15 decks)

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