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by: Mrs. Raheem Heathcote


Mrs. Raheem Heathcote
GPA 3.74

Cynthia Klevickis

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About this Document

Cynthia Klevickis
Study Guide
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This 3 page Study Guide was uploaded by Mrs. Raheem Heathcote on Saturday September 26, 2015. The Study Guide belongs to BIO 430 at James Madison University taught by Cynthia Klevickis in Fall. Since its upload, it has received 15 views. For similar materials see /class/214121/bio-430-james-madison-university in Biology at James Madison University.




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Date Created: 09/26/15
Quick Review JusT a few answers and some ideas for sTudying 51600 STud STraTe ie If you haven39T done so yeT sTarT by reading The ChapTer in The book ThaT corresponds To each seT of quesTions You mighT read Through The quesTionS firsT so you can focus your reading and find The answers efficienle My goal is for you To undersTand The concest well enough ThaT you can apply Them To new quesTions For example AuTosomal means associaTed wiTh somaTic non sex chromosomes If you undersTand ThaT auTosomal dominanT means ThaT an individual will express The TraiT even if They have inheriTed only one copy of The corresponding gene Then you should be able To inTerpreT any pedigree ThaT follows This inheriTance paTTern In response To sTudenT requesTs here are a few answers To geT you sTarTed My answers are highlighTed in yellow Women who inheriT one copy of The BRCAl gene have an 80 chance of developing breasT or ovarian cancer durin Their lifeTime This aTTern of inheriTance could be 6l l r lhn m i m l il ii i39u iii39i ii 39ri n Iiquot imf39 ftll39glquot il39 chance of inheriTing 3 Anne is The granddaughTer of woman who died of breasT cancer as a resulT of The BRCAl muTaTion Anne39s moTher lived To be 101 years old Never had cancer and died of a sTroke WhaT are The possible phenoTypeS for Anne 4 In The case of HunTingTon39s Disease anfCIpafon means ThaT subsequenT generaTions of individuals who inheriT The HD gene have earlier and earlier onseT of The disease WhaT is The molecular basis of This effecT WETr quot V r i H M l ll vlwlllom 5 WhaT is The difference beTween a sexlinked gene and a sexinfluenced gene Give aT leasT one specific example of each 6 Tuberous Sclerosis is an inheriTed disease ThaT someTimes has very mild sympToms and someTimes has a dramaTic effecT on iTs carriers causing severe menTal reTardaTion and neurological sympToms WhaT Technical Term describes This varieTy of sympToms associaTed wiTh The same genoType 7 WhaT culTural feaTure mighT explain a populaTion of people who have a high incidence expression of an auTosomal recessive TraiT EXAMPLE QUESTIONS and POSSIBLE ANSWERS QUESTION 1 Myocardial quotstunningquot severely weakened contractions of the heart that limit the amount of blood pumped through the body can strike people who suffer a heart attack or undergo heart surgery lnnovative animal research has confirmed earlier speculation that myocardial stunning is the result of a specific molecular alteration At the 72nd Scientific Sessions researchers reported that myocardial stunning results from an abnormality in troponin I a protein vital to ensuring that the heart muscle contracts properly Scientists demonstrated a link between stunning and a partial breakdown in troponin I by breeding a line of animals that have had a malfunctioning troponin I gene inserted into their own gene The mice with the altered gene developed myocardial stunning The discovery may eventually lead to new drugs that can prevent or reverse myocardial stunning From httn39 www 39 39 quot 39 i000103045748htm Possible question related to this abstract Troponin l is a structural protein in heart muscle Based on analogy to the myosinrelated cardio myopathies we discussed in class would you expect this gene to be dominant or recessive Explain why My answer Dominant In general defects of structural protein are dominant because the fibers or structural components made from these proteins would be defective even if they contained half normal and half abnormal proteins Thus even one defective gene would lead to the expression of the defective trait QUESTION 2 Whole Genome Scanning in Ankylosing Spondylitis Evidence of NonMHC Susceptibility Loci Laval SH I Timms A1 Bradbury L Edwards S Rubin L Siminovitch K Calin A Wordsworth BP Brown M A Genetic factors have long been implicated in causing Ankylosing Spondylitis AS One ofthe major histocompatability genes HLA B27 is strongly associated with the disease but the disease is thought to be associated with other genes as well In this research a total of 185 families containing 255 affected sibling pairs have been studied in two separate cohorts All affected individuals in the study were HLAB27 positive All families have been screened with a microsatellite tandem repeat sequence marker set This set of probes served as linkage markers that could be near possible other genes related to AS Outside ofthe known linkage to HLA B27 the strongest area of linkage was found to be on the long arm of chromosome 16 with an overall maximum multipoint LOD score of 47 Other areas of suggestive linkage are chromosome 2q LOD score of 25 chromosome 10q multipoint LOD score of 19 Possible questions I might ask Three LOD scores are referenced in this abstract What is an LOD score and how would you interpret each Which ofthese LOD scores would be considered as significant linkage markers to possible additional AS genes


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