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Human Genetics

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cystic fibrosis, albinism
example of recessive genetic disorder
cystic fibrosis
What is the most common recessive genetic disorder?
thick mucus
Symptom of cystic fibrosis
altered genes resulting in the absence of skin pigment
What is albinism?
chromosome 15
Where is Tay-Sachs disease located?
absence of an enzyme that breaks down fatty tissue
What causes Tay-Sachs disease?
mental deterioration
What is a result of Tay-Sachs disease?
body cannot digest galactose
What is galactosemia?
Huntington's disease
Examples of dominant genetic disorder
affects the nervous system
What is huntingtons disease?
loss of brain function, emotional disturbances
What are the results of huntingtons disease?
most common form of dwarfism
What is Achondroplasia?
Dominant disorders are more fatal, so they can't reproduce and the gene carrying the disorder can't be passed down.
Why are recessive disorders more common than dominant disorders?
diagram that traces the inheritance of a particular trait through several generations
What is a pedigree?
both alleles are expressed in the heterozygous condition
What is co-dominance?
sickle cell
example of co-dominance disease
africa
Where are sickle cell and malaria most common?
higher resistance to malaria
Carriers for the sickle-cell trait are what to malaria?
sickle-cell trait is higher
Death rate for malaria is lower when...
have sickle-cell, but can fight off malaria
What does it mean when your genotype is SS?
can't fight off malaria, so most likely to contract malaria
What does it mean when your genotype is AA?
carrying sickle-cell helps fight off malaria
What does it mean when your genotype is AS?
discovered red blood cells have a specific protein
What did Dr. Karl Landsteiner do?
multiple alleles
What is inheritance of blood controlled by?
IAIA and IAi
possible genotypes for blood type A
IBIB and IBi
possible genotypes for blood type B
IAIB
possible genotypes for blood type AB
ii
possible genotypes for blood type O
A and O
A can receive blood from...
B and O
B can receive blood from...
A, B, AB, O
AB can receive blood from...
AB
What is the universal recipient?
O
O can receive blood from...
A and AB
A can donate to..
B and AB
B can donate to..
AB
AB can donate to...
A, B, AB, and O
O can donate to...
O
What is the universal doner?
protein connected to the cell that signals to other cells what type it is
What is an antigen?
looks out for different blood type cells to get rid of
What is an antibody?
Antigen A
Antigen for blood type A
Antigen B
Antigen for blood type B
Antigen A and Antigen B
Antigen for blood type AB
No antigens
Antigen for blood type O
Anti B antibodies
Antibody for blood type A
Anti A antibodies
Antibody for blood type B
No antibodies
Antibody for blood type AB
Anti A antibodies and Anti B antibodies
Antibody for blood type O
one trait controlled by 2 alleles
What is a polygenic trait?
skin color, height, eye color, fingerprint patterns
Examples of polygenic traits
color
What does Gene 1 control?
expression of B
What does Gene 2 control?
involves an extra autosome 21
What is down syndrome?
female missing an X chromosome
What is Turner's syndrome?
female has an extra X chromosome
What is Trisomy X?
male with an extra X chromosome
What is kleinefielders syndrome?
male is infertile
What does XYY mean?
a picture of a person's chromosomes, arranged in their homologous pairs
What is a karyotype?
to detect chromosomal abnormalities and diagnose certain types of genetic disorders
What are karyotypes used for?