BIMS 201 Midterm: Exam 3 Review

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Biomedical Science
BIMS 201
Elizabeth A.Crouch

42517 Exam 3 Review Genetic Counseling, Testing, and Gene Therapy (slide 24 and beyond)Ch.20 Exome sequencing: looking @ pt. of DNA that codes for protein (exons) o Matching phenotype to genotype(s) Chromosomal array tests: oligos (25 bp of singlestranded DNA on chip o cDNA made from mRNA using reverse transcriptase, then fluorescently labeled and adhered to chip, then chip is washed and some sequences come off, remaining ones can see (fluoresce) CLIA: Clinical Lab. Improvement Amendment o CAN Guarantees that lab is testing for what it claims to be testing for, state cleanliness requirements DNA regulation Disease diagnosis o CANNOT regulate tests for disease association wgenes regulate whether consumer gets helpful info or if consumer understands info Drug rxns: look @ cytochromesencode proteins o pharmacoGENETICS: single gene that affects drug metab. measures enzyme that processes drug 1 st o 1pharmacogenomics: multiple genes that affect drug metab. lysosomal storage diseases o enzyme replacement therapy: recombinant enzyme infused into patient=compensates for badabsent enzyme o substrate red. therapy: oral drug red. level of substrate (where bad enzyme is acting on) enzyme can fxn better o pharmacological chaperone therapy: oral drug binds misfolded protein restored fxn gene therapy concerns o scientific: 1. which cells should be treated and how? 2. Will the immune system attack the introduced cells? o bioethical: 1. Does the participant in gene therapy trial truly understand risk? 2. Should clinical trials be halted if gene enters germline? (ILLEGAL!) Requirements for clinical trial approval: 1. Knowledge of defect and how it causes symptoms 2. Animal model 3. Success in human cells growing in vitro
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