BISC403 Final: Final Exam Review

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Biological Sciences
Olabisi Oyenike

Dominant disorder = chance the individual will get allele; if you get allele, get the disorder; ratio doesnt change regardless of the spouse; autosomal dominant spouse does not matter If information is vital to figuring it out, will be given in the question Types of recessive mutations o Loss of function amorphic, hypomorphic o Haplosufficient less than 100 activity is sufficient to produce a wildtype phenotype Types of dominant mutations o Loss of function amorphic, hypomorphic o Haploinsufficient less than 100 activity is not sufficient to produce a wild type phenotype o Gain of function hypermorphic, antimorphic, neomorphic Hypermorphic by increasing the normal activity of the wildtype allele Antimorphic by interfering with the activity of the wildtype allele (=dominant negative mutation) Neomorphic by conferring a new activity on the protein Chromosomal mutations and how they play a role in DNA analysis in how to understand them o Like PCR, agarose gels (use for size, not if theres a SNP) The role of reporters and how they impact studying genes Retrotransposons Methylation in one of the two chromosomes (one from each parent); depending o Disorders the other region has to be activated in the other parent; if it is deleted or something happened in the other functional copy no functional copies; different disorders because different genes that are affected, although in the same chromosomes Polygenic = multiple genes affecting one phenotype; like color, height Pleiotropy = one change, multiple phenotypic effects; like Sicklecell anemia Translocation FISH will solve; can see regions that have swapped Deletion is usually large enough to see in a gel electrophoresis; if question doesnt specify if small or large, assume large enough How much insertion you have also determines what you can use for the insertion; if large enough, can be detected with PCR and gel electrophoresis cDNA is for mRNA to DNA, reverse transcription; so you know levels of expression; the fact that a gene is there doesnt mean it is expressed; we want to know the expression of the gene Dont need to know shotgun sequencing Know Sanger sequencing; using ddNTPs to stop replication Look at all the chromosomal changes in our notes and think if we can use one of our tools to evaluate for the changes Dont need to know how to identify oncogenes through tumor viruses
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