Midterm 1

Question 1

centromere

Answer 1

the center of a chromosome

Question 2

q

Answer 2

the long arm of a chromosome

Question 3

p

Answer 3

the short arm of a chromosome

Question 4

pyridimine

Answer 4

single carbon base pairs (cytosine and thymine) that pair with purines (adenine and guanine)

Question 5

purine

Answer 5

double carbon base pairs (adenine and guanine) that pair with single carbon base pairs (cytosine and thymine)

Question 6

genes

Answer 6

groupings of base pairs that are used to form an end product of a protein to dictate cellular functioning; the recipe to make a certain protein

Question 7

23,000

Answer 7

the approximate number of genes per nucleus

Question 8

somatic cells

Answer 8

23 pairs of chromosome

Question 9

gamete cells

Answer 9

23 single chromosomes (reproductive cells)

Question 10

2 steps of DNA replication

Answer 10

1. transcription 2. translation

Question 11

transcription

Answer 11

using the DNA template to make a copy called mRNA (U pairs with A instead of T)

Question 12

translation

Answer 12

a process in which tRNA directs the synthesis of a polypeptide which takes place on the ribosome using rRNA

Question 13

polymerase

Answer 13

proof reads the mRNA

Question 14

Redundant DNA/ Desert DNA

Answer 14

sections that are not parts of specific genes and do not code for proteins (95% of DNA)

Question 15

Point mutations

Answer 15

a mutation that substitutes one base for another

Question 16

Missense point mutations

Answer 16

a mutation that can cause minor or severe problems

Question 17

Silent point mutations

Answer 17

a mutation that makes no difference, the resulting codon still codes for the same amino acid

Question 18

Nonsense point mutations

Answer 18

a mutation that causes an early stop signal resulting truncated or ineffective proteins

Question 19

Frameshift mutations

Answer 19

replication of a gene starts or ends at a different place

Question 20

Insertion

Answer 20

adding an extra base, a type of frameshift mutation

Question 21

Deletion

Answer 21

removal of a base, a type of frameshift mutation

Question 22

Reading frameshift mutation

Answer 22

A mutation in a DNA chain that occurs when the number of nucleotides inserted or deleted is not a multiple of three, so that every codon beyond the point of insertion or deletion is read incorrectly during translation

Question 23

translocation

Answer 23

one piece of chromosome “trades” information for another Ex. Chronic Myelogenous Leukemia (CML) and the Philadelphia chromosome

Question 24

allele

Answer 24

any alternative form of a given gene Ex. eye color trait may be blue or brown

Question 25

locus

Answer 25

position of a gene on a chromosome

Question 26

heterozygous

Answer 26

carrying two different allele's for a gene Ex. Aa

Question 27

homozygous

Answer 27

carrying 2 copies of the same allele for a gene Ex. AA

Question 28

Genotype

Answer 28

the genetic code of a person, their unique sequence of DNA

Question 29

Genome

Answer 29

the complete set of genes in a human

Question 30

Phenotype

Answer 30

recognizable traits of a particular genotype, outward appearance of a trait Ex. blue eyes

Question 31

Karyotype

Answer 31

pictorial chromosomal make up of an individual Ex. looking for an extra chromosome in Down's Syndrome

Question 32

Expressitivity

Answer 32

the level that a gene is expressed in a phenotype which can be moderate to severe

Question 33

Penetrance

Answer 33

the ability of a gene to represent itself (penetrate)

Question 34

Epigenetic

Answer 34

heritable expression of genes, excluding nucleic acids

Question 35

Mendel's 1st Law

Answer 35

The Principle of Segregation- when forming gamete cells only one allele goes to each cell

Question 36

Mendel's 2nd Law

Answer 36

The Principle of Independent Assortment- the emergence of one trait will not affect the emergence of another Ex. blue eyes doesn't affect hair color

Question 37

Autosomal Dominant

Answer 37

a disease in which a person needs only one mutant allele Ex. Huntington's

Question 38

Autosomal Recessive

Answer 38

a disease in which a person needs two mutant alleles Ex. Sickle Cell Anemia

Question 39

X-linked Disorders

Answer 39

such disorders demonstrate a characteristic phenotype in males Ex Hemophilia, Turner's Syndrome, Klinefelter Syndrome

Question 40

Complex Multifactorial Diseases and Disorders

Answer 40

Several genes have mutations that individually or together casue a disease Ex. Diabetes type 1, Diabetes type 2

Question 41

Atrophy

Answer 41

decrease in cell size associated with loss of components and organelles

Question 42

Physiologic Atrophy

Answer 42

normal atrophy w/ age ex. thymus, sex glands, brain

Question 43

Pathologic atrophy

Answer 43

atrophy due to disease

Question 44

Disuse

Answer 44

decreased workload as with bedrest

Question 45

Denervation

Answer 45

decreased nerve stimulation as with paralysis

Question 46

Ischemia

Answer 46

decreased blow flow

Question 47

Ubiquitin-proteosome pathway

Answer 47

normal process of degrading proteins in the cytoplasm to recycle or turnover proteins (ubiquitin is the first protein in the pathway), deregulated with cancer

Question 48

cachexia

Answer 48

wasting

Question 49

hypercatabolic

Answer 49

high energy

Question 50

hypertrophy

Answer 50

increase in cell size (protein and components)

Question 51

hyperplasia

Answer 51

increase in number of cells (only in cells capable of mitosis)