Tuesday, September 7, 2010
Resource Center: genetics
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Description:
The mission of AsktheGeneticist (SM) is to answer questions about genetic concepts, and the etiology, treatment, research, testing, and predisposition to genetic disorders. Questions that meet this criteria are answered and posted to the site. (From Their Website)
Source:
Emory University Autosomal Dominant Inheritance
Description:
Diagrams of classic autosomal dominant inheritance and pedigree. The term autosomal means that the disease-causing mutation is located on one of the 22 autosomes.
Turner Syndrome
Description:
A description of Turner Syndrome. Monosomy X (45,X), or Turner syndrome, results when an individual inherits one X chromosome and no second sex chromosome. All individuals with Turner syndrome are female.
Polymerase Chain Reaction
Description:
A sample of amniotic fluid yields a small amount of cells and, therefore, DNA. Often when performing genetic testing on amniotic fluid, the first step is to use a technique known as polymerase chain reaction (or PCR) to make many copies of the region of DNA that is of interest, since there are too few to study in the original amniotic fluid sample. This process is called amplification and can be done on DNA extracted from any tissue type. In the case of sickle cell anemia, the beta-globin gene is amplified. 
To replicate DNA, PCR uses the following:
Restriction Enzyme Digestion
Description:
Restriction enzyme digestion describes the process used to cut, or digest, large pieces of DNA into smaller pieces. DNA is cut by combining it with a special type of enzyme, a restriction enzyme, which "recognizes" a unique DNA sequence. The mixture is then incubated under laboratory conditions to maximize digestion. During digestion, the enzyme locates places along the DNA with the unique sequence and cuts the DNA at that site. 
Cardiomyopathy
Description:
Image courtesy of Dr. Edwin P. Ewing, Jr. and the CDC 1972 
(1 vote)
Maria's Mother's Family History
Description:
Click on the pedigree image to review the family history on Maria's mother's side as it currently stands and to compare it to your own version before proceeding. The following is an image of Maria's mother's medical family history.
Punnett Squares for X-Linked Recessive Conditions
Description:
Below are sample Punnett squares for X-linked recessive conditions. The disease-causing mutation is denoted by the lower case letter a. The normal gene is denoted by the capital letter A. 
The Punnett square to the left is representative of possible reproductive outcomes should a female with an
Punnett Squares for X-Linked Dominant Conditions
Description:
Below are sample Punnett squares for X-linked dominant conditions. The disease-causing mutation is denoted by the capital letter A. The normal gene is denoted by the lower case letter a . 
The Punnett square to the left is representative of possible reproductive ou
Punnett Squares for Autosomal Recessive Conditions
Description:
Below are sample Punnett squares for autosomal recessive conditions. The disease-causing mutation is denoted by the lower case letter a. The normal gene is denoted by the capital letter A . 
The Punnett square to the left is representative of possible reproductive outcomes should
