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| a device that integrates one or several laboratory functions on a single chip of only millimeters to a few square centimeters in size |
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| a broader term that describes also mechanical flow control devices like pumps and valves or sensors like flowmeters and viscometers |
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| disease type expressed in a Mendelian fashion and associated with only one gene as its cause; not the most common |
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| disease that is not expressed in a Mendelian fashion and one involving multiple genes and multiple gene products interacting with each other, other gene products, and the environment to produce the observed phenotype |
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| trait that exhibits a range of phenotypes (quantitative trait) |
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| Quantitative Trait Loci (QTL) |
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| the location of the genes that are used to define continuous traits |
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| scanning technique used to identify variant alleles and examine association with phenotypic expression of the genotypes |
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| scanning technique used to identify changes in the mRNAs expressed in specific tissues and examine association with phenotypic expression |
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| scanning technique used to identify changes in protein expression and activity in specific tissues and examine their associations with phenotypic expression |
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| scanning technique used to identify changes in total small-molecular-weight solutes and metabolites in a given tissue for phenotype associations and changes in metabolites of drugs, either quantitative or molecular, and examine their associations with drug response |
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| Linkage disequilibrium (LD) |
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Definition
| nonrandom association of specific alleles at specific loci with other alleles at nearby loci shared due to ancestry and not found in other families |
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| polymorphism in this part of the genome usually has no biological effect but it can in some instances |
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| polymorphism in this part of the genome may produce splice variants |
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| polymorphism in this part of the genome may effect transcription by turning the gene on or off abnormally |
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| polymorphism in this part of the genome may affect mRNA stability, structure, and/or regulatory functions |
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| type of polymorphism where, even though there is a single nucleotide difference, the end result is the same amino acid; usually occupies the wobble position (3rd BP) |
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| a type of nonsynonymous polymorphism where there is a difference of one nucleotide that results in the formation of a completely different amino acid than was intended, altering the amount or function of the protein or having no biological effect at all |
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| a type of nonsynonymous polymorphism where there is a difference of one nucleotide that results in a stop codon causing the formation of a truncated protein |
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| nucleotide sequences that are repeated in tandem to each other (continuous chain) |
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| Variable number tandem repeats (VNTRs) |
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| large repeats, as in several hundred base pairs; minisatellites |
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| Simple tandem repeats (STRs) |
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| small repeats, as in 1-5 bp; microsatellites |
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| variations between individuals that occur in less than 1% of the population |
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| Microsatellite instability (MSI) |
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| a variation in the number of repeats in diseased cells of an individual compared to the number of repeats in the same individual’s normal cells |
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| mutant cancer-promoting gene |
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| Loss of Heterozygosity (LOH) |
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| loss of the entire chromosome or the segment carrying the wild-type gene |
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| gene that actively regulates cell cycle pathways, preventing cancer that results from uncontrolled mitosis |
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| mutation of this gene is implicated in nearly 50% of all tumors |
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| changes in gene activity that are unrelated to changes in the primary DNA sequence |
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| epigenetic effect caused by sequences with several non-tandem CG repeats (NOT a microsatellite) that are methylated at the P molecule between the C and G resulting in gene silencing |
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| he "switching off" of a gene by a mechanism other than genetic modification |
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| Hardy=Weinberg equilibrium |
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| calculation of the expected frequencies of alleles in a population, assuming random inheritance of the alleles (Mendelian) |
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| gene detection strategy where the pattern of co-segregation of markers and disease phenotype through generations within families are examined allowing clinicians/researchers to estimate the chromosomal location of the candidate disease susceptibility gene and determine the gene that is responsible |
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| In complex disease, the total effect of two genes is the addition of the two effects together – 2 + 2 = 4 |
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| In complex disease, the total effect of two genes is more than the sum of the two effects – 2 + 2 = 6 |
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| In complex disease, the total effect of two genes is limited by competition of the two effects – 3 + 1 = 2 |
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| In complex disease, the total effect of two genes cancel each other out - +2 + -2 = 0 |
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| In complex disease, the negative effect of one gene has beneficial effects overall – +2 + -4 = -2 |
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| the “science” of improving human stock by humanity taking control over its own evolution |
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| ensuring that “desirable” races and “strains of blood” prevailed and multiplied |
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| a way of reducing or eliminating “bad genes” from the gene pool |
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| Harvard professor and American leader of eugenics movement who thought races and nationalities reflect biological differences manifesting distinct racial traits, believed that immigration from Southern Europe would hurt American population, and presented information like it was scientific evidence when there was nothing to back it up |
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| eugenecist that believed the mentally deficient were “a vigorous animal organism of low intellect but strong physique – the wild man of today” and whose notions resulted in public policies |
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| 1927 case upheld by the Supreme Court as constitutional allowing the involuntary sterilization of a woman deemed an imbecile due to inherited feeblemindedness |
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| American eugenecist who believed the over 200 years 1000 Harvard grads would have 56 descendents and 1000 South Italians would have 100,000 thus overpowering the "gifted" children with "inferior genes" |
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| principle of healthcare meaning to do no harm, to remove harm and to prevent harm |
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| principle of healthcare meaning to do good |
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| 1995 Florida Supreme Court case finding a physician negligent for not informing patient her thyroid cancer was inherited but found he had no right to tell the patient's daughter about her mother's inherited condition |
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| New Jersey Superior Court case that found that a physician was obligated to inform a patient's daughter of her risk for inheriting her father's condition of multiple polyposis of the colon thereby endangering her life |
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| Genetic Information Non-discrimination Act of 2008 (GINA) |
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| law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health |
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| 18th century French naturalist who wrote a 1749 article using “race” in scientific discussion of human groups |
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| Swedish naturalist who developed organismal classification system and in a 1758 article described 4 human races |
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| describes when genes for a measured trait are not linked |
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| marriage within a specific group as defined by custom or law |
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