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Medical Genetics Q1 > Introduction To Genetics > Flashcards

Introduction To Genetics Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

What does hereditary mean

A

The DNA is in the germ cells

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2
Q

What does familial mean

A

Runs in the family, may not always be genetic I.e. Multiple sclerosis

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3
Q

What does genetic mean

A

Pathophysiology of the disorder is based in the changes in the DNA

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4
Q

What is genotype

A

The information about the patient from genetic tests results

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5
Q

What is phenotype

A

What you can physically observe, defined at multiple levels

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6
Q

What year was the human genome sequenced?

A

2000

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7
Q

Goals of the human genome sequencing

A

Identify genes, determine sequences, store information, improve tools, transfer technologies, address issues

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8
Q

What is ELSI implications

A

Ethical, legal, and social issues

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9
Q

What is the number of coding genes in humans

A

23000 genes

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10
Q

How do fewer genes account for greater complexity?

A

Alternate splicing (40% of genes), post translational modifications, epigenesis

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11
Q

How large is the genome?

A

3.2 billion base pairs (Gb)

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12
Q

Number of coding region (exons)

A

64 Mb

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13
Q

Number of mutations per human

A

4 Mb

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14
Q

What is an exon

A

Coding region of the genome

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15
Q

What are the elements of ENCODE

A
  1. Elements that act at the protein and RNA levels

2. Regulatory elements that control cells and circumstances to make a gene active

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16
Q

What is a somatic mutation

A

The natural mutation that occurs in a person’s lifetime

17
Q

What is a mutation

A

Any change or deviation from the normal DNA code

18
Q

What is genetic polymorphism

A

The simultaneous occurrence in the same locality of 2+ discontinuous forms in such proportions that the rarest cannot be maintained by recurrent mutation

19
Q

What are the adverse reproductive outcomes

A

Infertility, fetal anomalies, abnormal screening, spontaneous miscarriages, low birth weight

20
Q

What common disorders have a genetic basis

A

Cancer, vascular occlusion, HTN, diabetes, autoimmune disorders

21
Q

What are the aspects of P4 medicine?

A

Personalized, predictive, preventative, participatory

22
Q

Current applications of genetics

A

Family history, cancer therapeutics, pharmacogenetics, genetics susceptibility, SNP associations, molecular diagnostic tests

23
Q

What is clinical genetics

A

The diagnosis, prognosis, and treatment of genetic diseases

Medical Genetics Q1 (3 decks)

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