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AP Bio- Mendelian Genetics 3: Human Genetic Conditions

3 of 3 of my Mendelian Genetics Unit. Image Credits: Biology (Campbell) 9th edition, copyright Pearson 2011, & The Internet Provided under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. By David Knuffke.
by

Jessica Gregerson

on 9 February 2015

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Transcript of AP Bio- Mendelian Genetics 3: Human Genetic Conditions

Human Genetic Conditions

Autosomal

Pedigree
Analysis

Sex-Linked
Big Questions
Make Sure You Can
How are traits inherited?

How are traits expressed?

What is the relationship between genetics and human health?
Interpret pedigrees and use them to identify the mode of inheritance for particular traits.

Identify each of the examples in this presentation as belonging to particular modes of inheritance.

Explain how each of the examples discussed in this presenation affects human physiology at the molecular, cellular and organismal levels of organization.
A way of tracking genetic relationships
circles: females
squares: males
shaded: expresses phenotype
unshaded: no phenotype
An example of an genetically unhealthy pedigree (why?)
Modern genetic testing can detect genotype directly
A few points to keep in mind
Very few traits are inherited in strictly Mendelian patterns.

From an evolutionary perspective, traits that confer fitness in some circumstances can be detrimental in others.
Dominant
Recessive
Widow's Peak shows a dominant inheritance pattern
Examples of other Dominant Conditions
Achondroplastic Dwarfism
Acromegaly
Huntington's Chorea
One of several forms of Dwarfism in humans.

Affects cartillage formation and bone growth.

Lethal in homozygous condition
Peter Dinklage
One of several forms of Gigantism in humans.

Develops from an overactive pituitary gland

Can lead to serious health complications
Andre The Giant
Results from an abnormally large huntingtin protein.

Leads to degeneration of the nervous system.

Symptomatic and lethal in middle age.
Woody Guthrie
Attached earlobes show a recessive inheritance pattern
Examples of other Recessive Conditions
Albinism
A mutation in the melanin production pathway.

Can be associated with vision problems, increased photosensitivity.

Seen in many different animals
Phenylketonuria (PKU)
An inability to digest the amino acid phenylalanine (common in many foods and artificial sweeteners).

Untreated can lead to intellectual disability.

Can be managed with diet regulation.
Cystic Fibrosis
A defect in chloride ion membrane channel proteins, leads to a buildup of stick mucus

Has many symptoms, particularly in the respiratory and digestive system.

Must be intensively managed

Death usually by age 50.
X-Linked Recessive
X-Linked
Dominant
Y-Linked
Most common sex-linked inheritance pattern in humans.

Tend to show up in males due to hemizygosity.
Hemophilia
A defect in the proteins involved in blood clotting.

2 different forms are X-linked recessive conditions.

Can lead to death from hemorrhage (not typical in modern times).
Red-Green Color Blindness
A defect in the proteins that detect particular wavelengths of light.

Harmless...unless you want to be a pilot.
Not particularly common...

...but make sure you can spot it on a pedigree
Even less common than X-linked Dominant (the Y chromosome has almost no genes on it).
Duchenne Muscular Dystrophy
Due to an abnormality in the dystrophin protein.

Early onset muscle degeneration disease.

Symptoms appear by age 6, terminal by mid-20's
Inheritance of Hemophilia in a European Royal Lineage.
The Dystrophin protein is encoded in the longest gene in the human genome (2.4 MB)
An example of a vision test given to children to determine color-blindness.
Full transcript