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33 Cards in this Set
- Front
- Back
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main goals and objectives of GenNeo
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understand:
genetic principles importance of normal genetic variation importance of primary care physician cancer is both a genetic and epigenetic disease cellular and histopathological characteristics of cancer causes of cancer cancer prevention cancer diagnosis, treatment, and management ethical issues |
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Why study genetics
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knowledge explosion
genetics and preventitive medicine confidentiality and descrimination- limitations of GINA relevance to primary care ELSI- ethical, legal, social issues |
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under HIPAA
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an individual with a presymptomatic genetic condition cannot be considered to have a preexisting condition when applying for health insurance or changing policies
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GINA
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bar health insurers from denying coverage to a healthy individual or charging the person higher premiums based solely on a genetic predisposition to developing a disease in the future. The bill would also prohibit employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions
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limitations of GINA
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it only pertains to healthy individuals
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genetic locus
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a specific position or location on a chromosome
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allele
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one of the alternative versions of a DNA nucleotide sequence that may be at a given chromosomal locus
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mutant alleles are___________ and can be_________
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the most obvious allelic differences and they can be normal or abnormal
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polymorphism
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nucleotide sequence variation at allelic chromosomal sites caused by base-pair mutations, deletion, or insertion
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_______ carry ABO antigens
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glycosphingolipids
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Blood antigens result from
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three alleles at a single locus
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the gene for blood antigens encodes
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two variant glycosyltransferases and a third allele with no functional protein
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Allele O was derived from
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allele A by a single base-pair deletion which caused a frame-shift
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carbohydrates of the blood antigens are attahed to
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ceramide membrane anchors
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Type A antigen has
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N-acetylgalactosamine
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Type B antigen contains
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galactose
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type O antigen has
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neither
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H transferase transfers
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galactose-Nacetylglucosamine-Galactose-fructose to the ceramide precursur substrate
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a loss of function signifies
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mutation
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A and B alleles are examples of
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benign mutations
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Type B antigen contains
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galactose
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type O antigen has
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neither
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H transferase transfers
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galactose-Nacetylglucosamine-Galactose-fructose to the ceramide precursur substrate
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a loss of function signifies
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mutation
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A and B alleles are examples of
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benign polymorphisms
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O allele is an example of
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mutation
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importance of poylmorphisms
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can determine a person's genetic predisposition to a disease
allow evaluation of the role of non-genetic factors in disease identify disease-causing genes by linkage analysis predict disease risk gives diversity many gene products interact with metabolic pathways each person will respond differently to the environment |
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recombination requires
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DNA sequence identity or similarity
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The Holliday junction can migrate________
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along the chromosome by un-pairing DNA from one chromosome and re-pairing that DNA with the other chromosome
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crossing over is resolved by:
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cutting and ligating at the Holliday Junction
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centimorgan
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1% chance that a marker at one genetic locus on a chromosome will be separated from a marker at a second locus due to crossing over
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pharmacogenetics
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the study of heritability in drug response
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pharmacogenomics
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the development of new drugs based on increasing knowledge of ALL genes in the human genome
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