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Practice questions for this set
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ensuring that the influence of a person's genetic history on health and disease is
considered as part of general assessment for all patients and families
Choose an answer
We are moving to ___________-__________
1 2 Genomic Care
healthcare
3 Nonsense Mutation 4 DNA
Don't know?
Terms in this set (93)
We are moving to ___________-__________ patient-sequenced
healthcare
Genetics the study of the general mechanisms of heredity and the
variation of inherited traits
Genomics the study of the function of all the nucleotide sequences
present within the entire genome of a species, including
genes in DNA coding and in DNA noncoding regions
Gene specific segments of DNA that contains the genetic code for a
specific protein
DNA the genetic material in a cell that contains genes
, Chromosome a temporary structure that is a large chunk of DNA containing
many genes
Proteins complex molecules that are required for the structure,
function, and regulation of the body's tissues and organs
Monogenic trait a trait determined by a single gene
Allele alternative form or variation of a gene at a specific location,
two together control how that gene is expressed
Mutation when the sequence of the DNA of a gene is changed forever
Silent Mutation single base change in the DNA but no change in amino acid
sequence
Missense Mutation single base change that causes a different amino acid to be
placed within the protein
(MAY AFFECT PROTEIN FUNCTION- CYTOCHROME P450
ENZYME SYSTEM!!!)
Nonsense Mutation single base change that results in a stop signal that halts
protein synthesis
Single Nucleotide Polymorphisms (SNPs) Variations in the DNA sequence due to the change of a single
nitrogen base.
Polymorphism presence of two or more variant forms of a specific DNA
sequence that can occur among different individuals or
populations
Dominant Trait single gene trait that is expressed regardless of whether two
gene alleles are identical (homozygous) or different
(heterozygous)
Recessive Trait a single gene trait that is expressed only when both gene
alleles for the trait are identical (homozygous)
Penetrance how often a gene is expressed within a population when it is
present
Expressivity personal issue, rather than a population issue, in which the
degree of gene expression varies by the person who has a
dominant gene for a health problem
Genotype exact gene allele composition for a single gene trait
Phenotype physical expression of any given single-gene trait
Homozygous genotype and phenotype are the same
Heterozygous genotype and phenotype are different
Autosomal Dominant Disorder Examples huntington's disease
hereditary nonpolyposis colorectal cancer (HNPCC) aka lynch
syndrome