# data[].attributes.body
FH is an autosomal, dominant genetic disorder that disrupts the body's ability to eliminate low-density lipoprotein (LDL) from the blood, resulting in an increased risk of heart attack.

# data[].attributes.body
Jia, Aki's sister, took an at home genetic test and found out that she is at high risk of having FH.  Jia mailed in a saliva sample to a company who mailed her back a report of her DNA analysis.

# data[].attributes.body
Jia's saliva test is an example of a direct-to-consumer test.  Many companies now offer direct-to-consumer (DTC) gene testing to determine predisposition, or an increased likelihood, to certain diseases. Usually, genetic testing is done through a health care provider. However, DTC gene testing is now readily available, and gene testing kits can be bought online or in stores.

After purchasing a kit, the consumer collects their cheek cells (from a saliva sample or cheek swab) and sends them to the company. From these cells, DNA is extracted and sequenced, and the results are made available to the consumer online. The results can provide information about a person’s predisposition for certain health conditions. There are pros and cons to DTC gene testing, and as a consumer, it is important to do your homework and understand the limitations of such tests. For example, often the same test from different companies will produce different results, even for identical twins!

# data[].attributes.body
Aki is concerned if he and his family should trust a direct-to-consumer test. Do you believe that direct-to-consumer test is reliable? Should Aki and his family trust its results?

# data[].attributes.body
People also use DTC genetic testing to gain insights about other traits, as well as their genealogy, or their lineage.

# data[].attributes.body
Would you want to have your DNA sequenced and find out about your genetic health? What if the test only told you whether or not you might be likely to develop certain medical conditions? Explain the pros and cons of knowing this information.

# data[].attributes.body
After discussing the accuracy of DTC genetic testing with Aki, you agree to help him learn more about the FH and his family’s situation. Aki wants to learn more about his own genetic risk, and whether other members of his family also have a gene mutation that causes FH. You will complete additional laboratory testing, analyze results, and compile your findings into a comprehensive report that answers the following questions.

# data[].attributes.body
To detect a gene mutation that could cause FH, DNA is first obtained from the patient’s blood or saliva. This sample is then typically provided to a laboratory technician or molecular biologist who completes the remaining steps that can lead to diagnosis.

# data[].attributes.body
A laboratory technique for amplifying DNA in-vitro.  Uses a thermocycler, primers, DNA polymerase, and nucleotides.

To aid in the diagnosis of FH, a section of DNA containing the LDL receptor (LDLR) gene is amplified using the polymerase chain reaction (PCR). The amplified DNA is then analyzed to see whether there is a mutation. The most common cause of FH is due to mutations found on the LDLR gene.

# data[].attributes.body
A degradative enzyme that recognizes specific nucleotide sequences and cuts DNA at these sequences called restriction sites.  Also known as a restriction endonuclease.

To analyze DNA, molecular biologists sometimes use restriction enzymes to cut the DNA in specific places. By examining the sizes of the DNA fragments obtained after exposing the DNA to the restriction enzymes, you can detect mutations or changes in the DNA. Recall that this detection is possible because of Restriction Fragment Length Polymorphism or RFLP.

# data[].attributes.body
You previously used this to identify individuals during an investigation, but you can also use RFLP analysis to diagnose disease in an individual. For some genetic disorders, a restriction enzyme can be used that will cut only either the diseased sequence or healthy sequence. The resulting DNA fragments can be visualized and analyzed through gel electrophoresis.

# data[].attributes.body
Explain how the use of Restriction Fragment Length Polymorphisms to diagnosis genetic disease differs from its use in forensic investigations.