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by: Mrs. Raheem Heathcote


Mrs. Raheem Heathcote
GPA 3.74


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Class Notes
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This 1 page Class Notes was uploaded by Mrs. Raheem Heathcote on Saturday September 26, 2015. The Class Notes belongs to BIO 430 at James Madison University taught by Staff in Fall. Since its upload, it has received 9 views. For similar materials see /class/214129/bio-430-james-madison-university in Biology at James Madison University.




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Date Created: 09/26/15
Final Exam Review 9 Part 2 3 Human Genetics May 2000 instead oF adding to the existing review sheet 1 have written a separate document 1 Label each oFthe protein components in the Figure above and For each give a 39 specific example oFa cancererelated gene that corresponds to that type o Froteln 7 Yellow protein Purple protein Green protein complex Red protein Blue protein 2 Be able to define or explain how each oF the Following terms relates to genetic testing or genetic screening 1 did not talk very much about alphaeFetoprotein or spina bifida But since maternal serum testing is the most common Form onrenatal screening you should know about both oF these Maternal blood serum testing is used detect the presence oF three hormones that screen For neural tube deFects and Down39s syndrome The three hormones tested are alphaeFetoprotein APP human chorionic gonadotrophin HCG and estradiol E3 Key Words alpha fetoprotein amniocentesis artificial insemination carriers case studies chromosome abnormalities chorionic villus sampling confidentiality congenital adrenal hyperplasia eugenics genetic counseling genetic screening genetic testing informed consent in Vitro fertilization karyotype legislation mandatory testing newborn screening PKU prenatal diagnosis selective abortion sickle cell anemia Spina bifida Tay Sachs disease teratogens voluntary sterilization 3 Make a list oF conditions that would constitute a good reason to consult a genetic counselor 1 Conditions associated with the mother 2 Test results 3 Family history 4 Hypertrophic cardiomyopathy HCM is the most important cause oF sudden death in apparently healthy young individuals but its clinical manifestations are highly variable Chorionic villi The beta myosin heavy chain betaeMHC gene has been shown to be responsible For HCM in 10730 oF aFFected kindreds A kindred is a group oF extended Families oF related people Naturally occurring mutations in six other genes myosin binding protein C alpha tropomyosin cardiac troponin l and T myosin light chain 1 and myosin light chain 2 have also been shovm to cause HCM All oF the proteins listed are structural proteins associated with heart muscle Function ls HCM a dominant or recessive disease Explain why


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