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Pathophysiology: Chapter 2: Concepts of Human Disease Questions well Answered

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Pathophysiology: Chapter 2: Concepts of Human Disease Barr Body - Answer- Inactivated X chromosome in each female cell Mitochondrial mutations can lead to what? - Answer- Hereditary disorders Genome - Answer- An organisms complete set of DNA Almost all human cells contain an entire geno...

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  • Pathophysiology: Chapter 2: Concepts of Human Dise
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Pathophysiology: Chapter 2: Concepts
of Human Disease
Barr Body - Answer- Inactivated X chromosome in each female cell

Mitochondrial mutations can lead to what? - Answer- Hereditary disorders

Genome - Answer- An organisms complete set of DNA

Almost all human cells contain an entire genome besides RBC

Epigenetic mechanisms - Answer- Affect gene function

May or may not change DNA sequence

Epigenome - Answer- Collection of chemical compounds

Sources of genomic modifications - Answer- Can be passed on during cell division

Can be inherited

Epigenomic Plasticity - Answer- Allows for genetic reprogramming due to various
lifestyle changes

Ex: Nutrition, aging, air pollution

Three periods of high vulnerability to epigenomic disregulation - Answer- Gestation,
neonatal/puberty development, old age

Three essential roles in epigenetic modifications - Answer- Cell
differentiation/proliferation, response to external environmental factors, biochemical
processes

What is Mutation - Answer- Grammatical error in a gene varying in type & severity
that can lead to disease

Can be corrected by repair mechanisms

Point Mutation - Answer- Change in one nucleotide with varying levels of severity

Silent Mutation - Answer- No change in AA sequence or protein

Missense Mutation - Answer- Change in AA sequence or protein

Chromosomal Disorder - Answer- Abnormality of chromosomal number & structure

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