Term
| When can the genotype and phenotype be the same? |
|
Definition
PKU. When the outward manifestation does not match the genetic code.
Treatment of disease alters phenotype but maintains genotype |
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|
Term
| What are the major differences between Spermatogenesis and Oogenesis? |
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Definition
Sperm: begins in puberty and continues all life
Continuous process
1 diploid cell makes 4 haploid sperm
Oogenesis: cyclical process
Takes longer to make
1 diploid= 1 haploid ovum |
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Term
| What are 2 examples of autosomal dominant diseases? |
|
Definition
| Huntington's and T1 Neurofibromatosis |
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Term
| Describe and give 2 examples of autosomal recessive diseases |
|
Definition
25% of being passed onto offspring
Sickle cell, PKU |
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Term
| Described X-linked recessive patterns of inheritance. Give 2 examples |
|
Definition
Most are recessive
Sons have 50% chance of inheritance
Duchenne muscular distrophy and hemophilia A |
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Term
| Describe expressivity and give an example |
|
Definition
extent of variation in phenotype
Polydactily (can range from nub to full digits) |
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|
Term
| Describe penetrance and give an example |
|
Definition
Have gene but do not exhibit it. Passes on to next generation.
Retinoblastoma |
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|
Term
| Give examples of complex or multifactorial diseases |
|
Definition
| DM, HTN, Obesity, Psych Disorders, Height |
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|
Term
|
Definition
| study of heritable changes in phenotype |
|
|
Term
| Give examples of epigenetic modification |
|
Definition
| DNA methylation, MicroRNA (can turn off gene expression; cancer), Histone modification, environment |
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Term
|
Definition
| Edwards Syndrome; die soon after birth |
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Term
|
Definition
| Patau Syndrome; Severe fetal anomalies, increased risk for pre-E |
|
|
Term
|
Definition
| abnormal larynx development. Low birth weight and mental retardation |
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|
Term
| Describe Klinefelter syndrome |
|
Definition
| 47XXY; Males. Usually sterile. No testicular growth or facial hair |
|
|
Term
|
Definition
| 45X; Short stature with webbing neck. Has X from ovum but not sperm |
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|
Term
|
Definition
Adaptive physiologic response to challenges
Once overload occurs, prolonged inflammatory response occurs |
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|
Term
|
Definition
| managing stressful demands that exceed resources |
|
|
Term
| What is GAS and its stages? |
|
Definition
| General Adaptation Syndrome. Alarm, Resistance/Adaption and Exhaustion |
|
|
Term
| Give examples of the GAS physiologic response to stress |
|
Definition
| Eczema, insomnia, HTN, Diuresis, Diarrhea |
|
|
Term
| What disorders have be linked to prolonged cortisol levels? |
|
Definition
| IBS, Ashthma, HIV progression, autoimmune diseases, functional decline |
|
|
Term
| Define psychoneuroimmunology |
|
Definition
| study of how consciousness, brain and spinal cord and immune system interact |
|
|
Term
| Trace the physiologic stress response |
|
Definition
| Stress-> hypothalamus->CRH-> pituitary->ACTH->cortisol |
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|
Term
| What hormones are secreted from the adrenal medulla. Include function |
|
Definition
| Catecholamines: Epi (glycolysis) and norepi (increases BP, emotional responses) |
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