Lecture 5 - Genetics in medicine Flashcards

1
Q

Genetic disciplines

A

Medical genetics - explores the genetic contributions to the etiology, pathogenesis, and natural hx of diseases and disorders

Clinical genetics - the diagnosis, prognosis, & treatment of genetic diseases

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2
Q

Genetic v. Familial v. Hereditary

A

Genetic - pathophysiology of the disorder is based on changes in DNA

Hereditary - the DNA change is in the germ cells

Familial - runs in the family (may not always be genetic)(common environment)
Ex. Multiple sclerosis

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3
Q

Human Genome

A
  • 3.2 Gb (3.2 billion base pairs)
  • aprox. 20k known genes
  • 3k genes associated with disease
  • Coding region (exons) = 64 Mb (2%)
  • 85% of disease causing mutations are in exons
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4
Q

Mutation v. Polymorphism

A

Mutation is any change/deviation from the normal DNA code

Polymorphism is a mutation (variant) that occurs in at least 1% of general population

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5
Q

Internet resources for human genetics

A

ornl.gov
OMIM (ncbi)
GeneReviews (ncbi)
Geneticalliance.org

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6
Q

Epidemiology of genetic conditions in clinical medicine

A
  • 60% of pediatric hospital admissions are due to a condition with a genetic basis
  • 40% of adult hospital admissions are due to a condition with a genetic basis
  • Genetic background has a 30% contribution to a person’s health
  • 2-3% of all newborns have recognizable anomaly and additionaln 2-3% ahve unrecognizable anomaly
  • 3% of US pop. has intellectual disability
  • 5% learning disability in all school age children
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