Definitions

Question 1

Steady State

Answer 1

Requiring energy, does not change with time

Question 2

Equilibrium

Answer 2

No net energy, no energy transfer

Question 3

Redundancy

Answer 3

one mechanism fails then others can still maintain that parameter around set point- back up

Question 4

Hierarchy of importance

Answer 4

set-point of some variables may be altered in order to maintain others

Question 5

Deficient Homeostatic mechanisms

Answer 5

disease progresses then normal compensatory responses fail and the normal negative feedback mechanism are overtaken by positive feedback loops with disastrous consequence

Question 6

Negative Feedback

Answer 6

minimized or reversed to keep parameter at a set point

Question 7

Postive Feedback

Answer 7

Amplification- child birth, ejaculations, ovulation, blood clot formation

Question 8

Feed-Forward

Answer 8

Anticipation

Question 9

Osmolarity

Answer 9

total concentration of all particles in solution

Question 10

Tonicity

Answer 10

concentration of only the osmotically active particles

Question 11

Imprinting

Answer 11

Methylation of specific loci & silencing of gene

Question 12

Antiicipation

Answer 12

Individuals in recent generations of a pedigree develop disease at an earlier ages & with greater severity

Question 13

Digenic disorder

Answer 13

2 mutant loci work together to produce an effect which is not seen without the other

Question 14

Haplo-insufficiency

Answer 14

half normal levels of the gene product result in phenotypic effects

Question 15

Gain of function mutation

Answer 15

increased levels of gene expression or the development of a new function of the gene product

Question 16

Pleiotropy

Answer 16

affects multiple organ systems

Question 17

Dominant-negative

Answer 17

mutant gene product interferes w/ the function of the normal gene product

Question 18

Heteroplasmy

Answer 18

ONLY IN MITOCHONDRIAL DISORDERS; variable expression in mitochondria, unequal distributions- severity of disorder depends on the # of mitochondria that have the mutant gene

Question 19

Necrosis

Answer 19

cell swelling, loss of plasma membrane integrity, inflammation

Question 20

Apoptosis

Answer 20

Programmed cell death, cell shrinking, maintains plasma membrane integrity, no inflammation

Question 21

Single Copy Genes

Answer 21

unique sequences in the genome that code for a protein

Question 22

Multigene Families

Answer 22

genes with similar functions that have risen by gene duplication

Question 23

Classic Gene families

Answer 23

multi-copy genes that show a high degree of homology

Question 24

Gene Superfamilies

Answer 24

multi-copy genes with similar function but limited gene homology

Question 25

SNP

Answer 25

single nucleotide polymorphism; single base pair change between individuals

Question 26

SSR

Answer 26

simple sequence repeat; tandem repeats of 2, 3, 4 base pairs repeated many times

Question 27

VNTR

Answer 27

variable number tandem repeats; tandem repeats of 5, 10, 100s of base pairs repeated many times

Question 28

LCR

Answer 28

Low copy repeat tandem repeats of thousands to hundreds of thousands of base pairs repeated a few times; may cause miss-pairing during mitosis and meiosis

Question 29

LINE

Answer 29

long interspersed nuclear element; encodes reverse transcriptase that makes DNA from mRNA enabling LINEs to copy themselves and enlarge the genome; may cause miss-pairing during mitosis and meiosis

Question 30

Pseudogene

Answer 30

sequences that look like real genes but are not function-no protein product

Question 31

Conventional pseudogne

Answer 31

not expressed and they often occur in gene families; others can be transcribed, but their transcripts are not functional

Question 32

X-inactivation center

Answer 32

XIST mRNA coat one of the X-chromosomes, that results in transcriptional interference

Question 33

Loss of heterozygosity

Answer 33

occurs when the inheritance of one disease allele in the germ-line occurs, and then loss of the second functional copy occurs, either during fetal development, or following birth sometime during the lifetime of the individual

Question 34

Pseudoautomsomal Dominance

Answer 34

an autosomal recessive condition presents in individuals in two or more generations of a family, thereby appearing to follow a dominant inheritance patter

Question 35

Assortative Mating

Answer 35

occurs when people associate the marry with “likely” -marrying hearing impaired

Question 36

Loss of Function Mutation

Answer 36

cause either reduced activity (hypomorph) or complete loss of gene product (null allele or apomorph)

Question 37

Compound Heterozygosit

Answer 37

2 different alleles in an individual

Question 38

Penetrance

Answer 38

proportion of individuals in a population that carry both the disease genotype and the disease phenotype

Question 39

Variable Expressivity

Answer 39

the degree in which a genotype is phenotypically expressed

Question 40

Allelic Heterogeneity

Answer 40

different mutations at the same locus cause the same disease phenotype

Question 41

Locus Heterogeneity

Answer 41

mutations at different loci that cause the same disease phenotype

Question 42

New Mutation

Answer 42

de novo mutation caused by increased paternal age mutation hot spots

Question 43

Germline Mosaicism

Answer 43

occurs when an individual has both normals gametes and diseased gametes

Question 44

Proteasome

Answer 44

covalently tags proteins targeted for destruction with ubiquitin