Exam 2

Front 1

bases

Back 1

adenine
thymine
cytosine
guanine

Front 2

gene

Back 2

1) fundamental unit of inheritance
2) A segment of a DNA molecule which regulates or influences formation, development, or function of an organism
3) fundamentally, it serves as a template for synthesis of a polypeptide

Front 3

regulatory sequences

Back 3

promoters, enhancers, etc. that tell a gene when, where, how rapidly, how long, to what stimuli it should function

Front 4

start codon

Back 4

denotes the beginning of the protein coding sequence (on switch)

Front 5

first exon

Back 5

usually contains the start codon

Front 6

introns

Back 6

intervening sequences that do not code for the protein; not a part of the mature RNA (mRNA) that is used to make the protein. removed by splicing.

Front 7

stop codon

Back 7

off switch

Front 8

processes of transcription and translation

Back 8

DNA (transcription) mRNA (translation) PROTEIN!!!

Front 9

proteins

Back 9

important structural, functional, and regulatory functions throughout the body.

Front 10

qualitative

Back 10

either present or absent

Front 11

quantitative trait

Back 11

measureable trait (height, BP, blood glucose, intelligence)

Front 12

expressivity/penetrance

Back 12

ways that gene expression can vary
-due to environment, more or less
-penetrance can be incomplete which means that everyone with the genotype doesn't automatically get the phenotype

Front 13

disease genes

Back 13

May determine
-likelihood of getting disease in the first place
-severity
-rate of progression
-likelihood of specific complications
-responses to therapies
-complications of therapies

Front 14

alleles

Back 14

alternative forms of a given gene

Front 15

centromere

Back 15

the central constriction of a chromosome, between the short (q) and long (p) arms

Front 16

codominant

Back 16

both traits are expressed in the heterozygous state (eg. AB blood group)

Front 17

dominant

Back 17

a trait that is fully expressed in the heterozygous state

Front 18

exons

Back 18

the transcribed and translated coding regions of the gene

Front 19

expression

Back 19

realization of the functional activity of a gene (doesn't occur if regulatory mechanisms 'turn it off'; can vary from tissue to tissue or time to time

Front 20

expressivity

Back 20

variable nature or severity of clinical phenotype in individuals with the same mutation (variable expressivity is common in autosomal dominant traits)

Front 21

gene

Back 21

the unit of heredity; now known to consist of DNA molecules arrayed on chromosomes

Front 22

genetics

Back 22

the study of heredity and the principles and molecular basis of inheritance

Front 23

genotype

Back 23

the allelic makeup of an individual, either in its entirety or at a given locus

Front 24

heterozygous

Back 24

two alleles in a given pair are different

Front 25

homozygous

Back 25

two alleles in a given pair are the same

Front 26

introns

Back 26

noncoding regions of DNA which are initially translated into mRNA but then removed from the transcript by splicing, and are not translated

Front 27

linkage

Back 27

traits or alleles which occur together more often than expected, usually because their loci are near each other on the same chromosome

Front 28

locus

Back 28

the physical location of a gene on a chromosome

Front 29

mutation

Back 29

an alteration in the DNA sequence which changes the sequence or number of AAs in the protein product

Front 30

penetrance

Back 30

the proportion of individuals with a specific genotype who exhibit the associated phenotype (incomplete = skipping generations)

Front 31

phenotype

Back 31

the appearance of a particular characteristic or set of characteristics in an individual (height, weight, blood type, eye color, pigmentation of skin, diseases vulnerable to...)

Front 32

polymorphism

Back 32

variation in DNA (usually refers to a variation of no clinical significance)

Front 33

recessive

Back 33

a trait that is not expressed in the heterozygous state

Front 34

semidominant

Back 34

a trait that is intermediate in the heterozygous state (red and white make pink flowers)

Front 35

splicing

Back 35

removal of introns in the generation of mature mRNA

Front 36

telomeres

Back 36

then ends of the chromosome (typically gene rich regions)

Front 37

stem cell

Back 37

a common precursor cell (in case of hematopoietic system, can differentiate into RBC, neutrophil, or megakaryocyte) few in number and divide slowly

Front 38

erythropoietin

Back 38

a hormone made by the kidney which boosts RBC production

Front 39

plasma

Back 39

fluid portion of blood containing water, proteins, and nutrients

Front 40

erythrocytes

Back 40

RBCs

Front 41

hematocrit

Back 41

fraction of blood volume occupied by RBCS (40=40% red cells)

Front 42

hemoglobin

Back 42

red cells are bags of this. hemoglobin is the oxygen carrying protein that makes blood red. normal blood = 15g Hb/mL.

Front 43

leukocytes

Back 43

white cells. they fight infection

Front 44

neutrophil (PMN)

Back 44

phagocytes that eat bacteria

Front 45

lymphocyte

Back 45

makes Abs, recognize and kill foreign cells (microbes, transplanted tissue, and cells infected with viruses)

Front 46

platelets

Back 46

small cell fragments of megakaryocytes that help the blood clot