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79 Cards in this Set
- Front
- Back
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People’s genetic makeup sets the stage for what? |
directly relates to state of health and disease |
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Disease is genetically based but influenced by what? Therefore, the focus is on what? |
environmental factors; the interaction of lifestyle choices and genes- targeted intervention and prevention |
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What will come from advances in nutritional genomics andwhat will it allow healthcareprofessionals to do? |
insight into root causes of disorders, providing new approaches that may bring about restoring health and preventing these disorders |
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What are some current goals of the Human GenomeProject? |
investigate the nongene sequences, which may be critical to regulating expression of genes and their encoded proteins; Catalog genes represented by the 3 billion nucleotides in human DNA, Identify protein products of each of these genes and understand their function, Associate variations in genes with specific diseases, Understand the way genes, proteins, and environmental factors interact to cause physiologic dysfunction and disease, Identify metabolites that help monitor disease progression |
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What are some ethical, legal, and social issues (ELSI) being addressed? |
discrimination with respect to employment and health insurance |
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What is bioinformatics? |
a tool for managing the vast amount of data generated by the various "omic" disciplines |
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Considering genomics, why are mice often used innutritional experiments? |
their genome is similar to the human genome |
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Knowing the gene associated with a particular disease and its DNA sequence, etc. provides what? |
ability to provide targeted therapy |
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. What is pharmacogenomics? |
using genomics to analyze the genetic variations in the genes that direct the synthesis of the drug metabolizing enzymes and using this to predict a patient's response |
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How may drugs differ in their effects on people based on theirgenetic makeups? |
genetic variations in genes that direct the synthesis of the drug metabolizing enzymes and using this info to predict a patient's response to a drug- (harmful, ineffective, intended effects) (slow vs. fast metabolizers)
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What might the future of client nutritioncounseling look like? |
delivering effective lifestyle therapy; associating a unique genotype to disease susceptibility
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How must the nutrition professional get preparedfor the era of genomic medicine? |
basic command of both genetics and genomics- fundatmentals to chronic disease and its' underlying geneX environment interaction
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What is genetics and how is it related todisease? |
science of inheritance; genetic factors in inheritance of disease
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What is genomics more concerned with? |
complex interactions between genes,their protein products, and the environment
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What is a codon? |
set of three nucleotides in transcribed and processed exon; specifies a particular AA and its position within the protein
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How many chromosomes are there andwhat do they contain? |
23 pairs of chromosomes (22 autosomes) + 2 sex chromosomes; combination of DNA and histones
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What happens during transcription andtranslation? |
know general process |
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What are the promoter region, exons, introns, and responseelements? |
promoter region- where the RNA polymerase attaches
exons- within coding region; sequences of nucleotides corresponding to the order of AAs in gene's protein product introns- within coding region; sequences interspersed between exons and do not code for AAs needed for synth of proteins response elements- within regulatory region; DNA sequences that serve as binding sites for regulatory proteins |
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What do transcription and translation make? |
proteins?
transcription->mRNA translation-> amino acid sequence of the protein |
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What can a mutation within a gene cause? |
severe impairing of function of protein and creating dysfunction within cell/organism
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How much of a change in a gene can causeproblems? |
single nucleotide change
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What are silent mutations? |
has no effect on function |
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Whatare alleles and genetic polymorphism? |
term for different forms of a gene->explains why human beings are not identical, thought 99.9% alike genetically
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how a zygote gets a full set of chromosomes |
meiosis- one member of each autosome and sex chromosome pair is distributed to each egg or sperm; restored to diploid state upon fertilization |
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Mendelian inheritance |
rules governing distribution of chromosomes during mitosis and meiosis govern distribution of genes and any changes they contain
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pedigree |
tracking transmission of mutations through multiple generations using rules of Mendelian inheritance
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dominant and recessive genes |
trait is produced with only one copy of a variant allele (phenotype of variant allele is dominant) recessive- alleles that are not expressed with only one copy |
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autosomal dominant and recessive |
AD- single gene disorders AR- much more common, include metabolic disorders of AA, lipid and carbs |
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sex-linked disorders |
both X and Y
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X-linked recessive and dominant |
dominant- fragile X syndrome- susceptible to breakage _> development delays, mental impairment, behavioral
dominant- hypophosphatemic rickets-> male and female, resistant to vit D therapy, characterized by bone abnormalities recessive- nephrogenic diabetes, insipidus, adrenoleukodystrophy, Duchenne muscular distrophy |
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Y-linked inheritance |
involve male sex determination and physiologic "housekeeping" functions; no nutrition disorders (so far)
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What do chromosomal abnormalities cause? |
Changes in number of chromosomes orarrangement of DNA within chromosome- Harmful/fatal
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What is the role of the nutrition professional with some nutritional abnormalities? |
targeted therapy development
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What do mutations at the molecular levelinvolve? |
Single nucleotide change or severalnucleotides within a single gene
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What do alteration in the regulatory and coding regions cause? |
Regulatory region (quantity of protein)
Coding region (affect amino acid sequence and function of protein) |
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What are some problems caused by autosomal dominantdisorders? |
oral motor problems, susceptibility to weight gain, constipation
albright hereditary osteodystrophy, marfan syndrome, familial hypercholesterolemia |
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What are autosomal recessive disorders also called? |
inborn errors of metabolism (IEM)
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recombinant DNA, |
using bacteria derived restriction endonucleases (restriction enzymes), cut DNA in precise reproducible locations along nucleotide chain, isolate fragments and use polymerase chain reaction PCR tech, make copies of the DNA for use
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genetic engineering |
? Not really addressed beyond recombinant
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single nucleotide polymorphism |
change involving a single nucleotide within DNA, may result in no function, or dysfunction with disease susceptibility
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What does disease at the mitochondrial levelcause? |
Often degenerative, affect tissues withhigh demand for oxidativephosphorylation
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What is mitochondrial inheritance? |
mother-> offspring; changes can lead to disease. Have characteristic inheritance pattern, non-mendelian (because does not consider father) "maternal inheritance", established maternal lineage
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What is genetic research suggesting concerning food components? |
? |
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Understand examples of the influences of gene-nutrient interactions on metabolic processes. |
check book pg 76-78 |
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How can nutrients modulate gene expression? |
cells monitor environment and alter cellular or molecular activities as needed; signal transduction
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What is the vitamin D receptor involvedin? |
cancer protection?
balance between ostoblasts and osteoclasts. gene VDR codes for vitD receptor on surface of cells-> vitD- relationship to control absorption of calcium from GI tract |
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What are PPARs involved in, and which component of foodmight be helpful? |
omega 3 and 6; serve as ligands for PPAR family of transcription factors. lipid sensors and regulate lipid and lipoprotein metabolism, glucose homeostasis, adipocyte proliferation and differentiation, formation of foam cells from monocytes. Components in sequence of events in which high fat diet promotoes insulin resistance and obesity
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Why are some genetic-nutrition connectionscomplex? |
multiple factors/mutations, interdependent
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Why do some people respond tomedical nutrition therapy and others don’t? |
metabolism variations |
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The interactions among genes, diet, and other lifestyle factors, and their influence on health and disease are |
nutritional genomics. |
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Nutrition can |
mitigate the harmful effects of many genetic errors that result in disease. supply missing metabolites. alter gene expression. |
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The Human Genome Project has been successful in |
identifying each nucleotide in the genome of human beings. |
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Stretches of nucleotides often found between one gene and the next along the chromosome are called |
intervening sequences. |
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Epigenetics refers to |
changes in single genes caused by environmental factors. |
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To know which therapeutic approaches are likely to be most effective in helping reduce a client’s risk of diseases to which he or she is susceptible, the nutrition professional will need to be able to read the person’s |
genotype. |
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The science concerned with the inheritance of an organism’s genetic material and the consequences of that inheritance is known as |
genetics. |
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Errors within genes that alter the amino acid sequence of the protein and impair physiologic function are called |
mutations. |
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The rules that govern the distribution of chromosomes and genes during mitosis and meiosis describe _____ inheritance. |
mendelian |
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Which amino acid conversion is impaired in individuals with phenylketonuria? |
Phenylalanine to tyrosine |
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Carriers |
Heterozygous individuals who have a single copy of a disease-causing gene but may not overtly express the disease |
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Alleles |
Variants of a gene; refers to the different variations in DNA sequence that a gene may have within a population |
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Genes |
Segments of DNA that encode the instructions for synthesizing a protein |
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Autosome |
One of the 22 pairs of nonsex (X or Y) chromosomes |
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Deoxyribonucleic acid (DNA) |
The genetic material for humans and most organisms; consists of two strands of nucleotide bases; a linear arrangement of nucleotides that encodes the information needed to create and operate a living organism |
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Karyotype |
Visual display of chromosomes arranged in pairs according to size followed by the X and Y chromosomes |
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Genetic code |
The combination of codons that specify the amino acids used to synthesize proteins |
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Phenotype |
The measurable expression of a gene, such as a physical trait or the level of a protein in a blood sample |
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Genotype |
An individual’s unique genetic makeup |
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Bioactive food components |
Nutrients and other food components that convey information to the genetic material and effect a change in gene expression |
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Mutations |
Changes in the DNA sequence that may change the protein whose synthesis is directed by the information in the DNA sequence |
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Nucleotide |
The building block of DNA and RNA; consists of the sugar ribose, the mineral phosphorus, and a nitrogen-containing purine or pyrimidine base |
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Penetrance |
The proportion of a population that has a disease-causing genotype and expresses the associated phenotype |
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Chromosomes |
Packages of DNA in the nucleus of a cell; each gene has an address as a discrete location |
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Translation |
The process of transferring information encoded in mRNA into the amino acid sequence of a protein |
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Nutritional genomics |
Study of the influence of nutrients and other bioactive food components on the expression of the genetic material |
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Transcription |
The process of transferring information encoded in DNA to RNA |
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Heterozygous |
Two different alleles at a single genetic locus |
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Nutrigenetics |
The study of the impact of an individual’s genetic variants on their metabolic and physiologic function |
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Homozygous |
Two identical alleles at a single genetic locus |
