BIOL2202 Lecture Notes - Lecture 32: Linkage Disequilibrium, Genetic Disorder, Cardiovascular Disease

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blueclam798

20 Dec 2018

School

Department

Biology

Course

BIOL2202

Professor

James Fraser

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Document Summary

This is a method of identifying the genes implicated in a multifactorial genetic disorder. Tries to find if the sequenced genes are associated with a disease. Method: take a large sample of people who have their dna sequenced, look at how different variations segregate between populations of people affected and unaffected with a disease. This comparison is called a case-control study: if there is a genetic variation that is present in both affected and unaffected population, then that. Snp will probably not associated that disease: note: variant (snp) themselves usually doesn"t cause the disease. Genes can also influence behaviour which determine how well you perform in school.

Related Questions

Jeff (age 38) and John (Jeff's 18 year old son) are seeking theadvice of a genetic counselor after a family member was recentlydiagnosed with Huntington disease, a progressive and fatal nervoussystem disorder that manifests itself when individuals aregenerally between age 30 and age 50. If Jeff has inherited the genefor Huntington disease, then there is a 50% probability that he haspassed along the gene to Jason. Jeff shows no symptoms of thedisease and he prefers not to know whether or not he has the gene.However, John, who recently became engaged to his girlfriend wantsto know whether or not he possesses the gene for Huntingtondisease. If John is found to carry the gene, it means that Jeffalso has the gene. Jeff and John are very close, and John knowsthat he would be unable to conceal his test results from hisfather.

Discussion Questions:

1. Do you believe that John has a right to know whether or nothe carries the Huntington's disease gene despite Jeff's wishes toremain uninformed about his own status? Instead of just stating'yes' or 'no,' be sure to explain your answer.
2. Does Jeff have the right not to know his status?
3. Would you want to know or not know? Why or why not?
4. What are the signs/symptoms and complications of Huntington'sdisease?

As always, post a minimum of three times. Answer the questionsin your first posting and respond to your classmates in your otherpostings.

Related Information: The process of testing for suspectedgenetic defects before administering treatment is called geneticdiagnosis by genetic testing. In some cases in which a geneticdisease is present in an individualâs family, family members may beadvised to undergo genetic testing. For example, mutations in theBRCA genes may increase the likelihood of developing breast andovarian cancers in women and some other cancers in women and men. Awoman with breast cancer can be screened for these mutations. Ifone of the highrisk mutations is found, her female relatives mayalso wish to be screened for that particular mutation, or simply bemore vigilant for the occurrence of cancers. Genetic testing isalso offered for fetuses (or embryos with in vitro fertilization)to determine the presence or absence of disease-causing genes infamilies with specific debilitating diseases

BIOL2202 Lecture Notes - Lecture 32: Linkage Disequilibrium, Genetic Disorder, Cardiovascular Disease

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