Chapter 4 Genetics Cards

Front 1

Genes encode for____

Back 1

proteins or (rRNA, tRNA, microRNA)

Front 2

Mutations in amino acid changes are____

Back 2

not constant

Front 3

Loss of function when a gene is not being used is a _____ mutation

Back 3

recessive

Front 4

Gaining a function is a____ mutation

Back 4

dominate

Front 5

There are about ____ nonessential and essential amino acids

Back 5

20

Front 6

____ amino acid types are essential to build a protein

Back 6

10

Front 7

alkaptonuria is when an enzyme to convert Homogentistic acid to Maleylacetocetate acid is____

Back 7

absent

Front 8

Phenotype of alkaptonuria is when____

Back 8

Urine does not get metabolize and urine turns black

Front 9

The first evidence of a specific relationship between genes and enzymes

Back 9

Garrod's research into alkaptonuria

Front 10

_____ showed a direct relationship between genes and enzymes in the haploid fungus Neurospora crassa

Back 10

Beadle and Tatum

Front 11

Beadle and Tatum's research led to the ____ gene(s)- one enzyme hypothesis

Back 11

one

Front 12

Strain that needs only simple minimal media

Back 12

Prototroph (Wild type)

Front 13

Strain needs supplement nutrients (rich media) to grow at full potential

Back 13

auxotroph (mutant)

Front 14

One gene - ____ polypeptide(s) in Eukaryotes

Back 14

many

Front 15

____ mutations cause many human genetic disorders

Back 15

single gene

Front 16

Mutations display a simple phenotype or ____ effects

Back 16

pleiotropic

Front 17

Excess phenylalanine causes mental retardation, slow growth, and an early death (____ effects)

Back 17

pleitrophic

Front 18

Diet is used to mange PKU by providing enough____

Back 18

phenylalanine

Front 19

Screening for PKU by ____ test

Back 19

Guthrie

Front 20

Classic albinism results from an autosomal ____ mutation

Back 20

mutation

Front 21

Defective Tyrosinase enzyme cuases____

Back 21

no melanin pigment

Front 22

Albino phenotype

Back 22

no melanin, white skin and hair, and red eye

Front 23

Two other types of albinism result from defects in ____ gene

Back 23

multiple

Front 24

Albino parents can produce a non-albino kid if they are ____ for a mutation in a different gene in the pathway

Back 24

homozygous

Front 25

____ is essential enzyme to purine utilization

Back 25

HGPRT

Front 26

Lesh-Hyhan Syndrome is sex-linked ______ mutation

Back 26

recessive

Front 27

So without HGPRT _____ starts to accumulate

Back 27

purine (uric acid to flood the body)

Front 28

(Lesh-Hyhan) Pleiorophic effects

Back 28

kidney failure, mental deficiency (fatal effects)

Front 29

Tay-Sachs is a _____ disease

Back 29

lysosomal storage disorder

Front 30

Tay-Sachs is a _____ mutation

Back 30

recessive

Front 31

Tay-Sachs pleiotropic effects

Back 31

neurological degeneration, hearing loss, and blindness

Front 32

Kartagner Syndrome is a _____ trait

Back 32

Autosomal recessive

Front 33

Kartager mutations

Back 33

parts of dynein motors of flagella (nonfunctional H-A enzyme)

Front 34

Kartagner Syndrome pleiotropic effects

Back 34

sinus, lung abnormality, sterility (nonmotile sperm), or dextrocardia (heart shifted to the right, no cilia movement)

Front 35

Sickle-Cell Anemia is where Red blood cells are shaped like a sickle under_____

Back 35

low oxygen tension

Front 36

Sickle RBCs are fragilie and form____

Back 36

blockage in capillaries

Front 37

Effects of S-C Anemia are_____

Back 37

pleiotropic (in most organs)

Front 38

Heterozygous individuals have a milder form of the sickle cell trait, which gives them_____

Back 38

resistance against malaria

Front 39

Hemoglobin mutation that causes sickle cell anemia is a change in the_____

Back 39

Beta polypeptide switching amino acid 6 Glu with a Val

Front 40

Cystic Fibrosis affects a gene on the chromosome____

Back 40

7

Front 41

Cystic Fibrosis is prevented by a protein called____

Back 41

CFTR (cystic fibrosis transmembrane conductance regulator)

Front 42

Deletion of 3bps caused by C-F causes the effect off_____

Back 42

Abnormal protein folding

Front 43

C-F like S-C has a disease resistant, C-F with_____

Back 43

Salmonella

Front 44

Are polypeptides immediate?

Back 44

No, takes time, may need modifications or need another protein

Front 45

Polypeptides come together to create a _____

Back 45

phenotype

Front 46

Progeria caused age to____

Back 46

fastforward

Front 47

Example of someone with Progeria

Back 47

John Hopkins

Front 48

What protein becomes abnormal that causes Progeria?

Back 48

lamin A which becomes progerin

Front 49

What does Progerin do?

Back 49

makes the nucleus unstable

Front 50

How is Progeria diagnosed?

Back 50

genetic test called HGPS (before it was based on physical alone)

Front 51

How to treat Progeria

Back 51

No current cure, but cancer drug, FTIs, may fix the damaged cells and ease/ delay some of the diseases symptoms

Front 52

Various other Progeria symptoms

Back 52

Big head, large eyes, small lower jaw, thin nose, ears that stick out, visible veins, slow/abnormal tooth growth, high-pitched voice, loss of body fat and muscle, and hair loss (including eye lashes/brows)

Front 53

How does a gene network work?

Back 53

metabolic pathways

Front 54

Gene codes for a protein which creates a____

Back 54

metabolic step

Front 55

Polar polypeptides

Back 55

Have positive/negative charges

Front 56

Nonpolar polypeptides

Back 56

Have no charge

Front 57

If you alter a nucleotide it affects an amino acid only if____

Back 57

it affects it's class

Front 58

You have to have both alleles recessive to have____

Back 58

recessive mutation

Front 59

___ mutation with an allele is needed to be dominate

Back 59

1

Front 60

The 10 essential amino acids are

Back 60

unable to be produced in our own bodies without energy (other sources like bacteria)

Front 61

As evolution progresses amino acids become essential as they____

Back 61

"drop off"

Front 62

The black urine (caused by Alk.) means that the ____ gene is defective

Back 62

Homogentistic Acid dioxygenase

Front 63

Q arm is ____ than the other arm

Back 63

longer

Front 64

Alk. prevents HA to be converted into____

Back 64

Maleylacetoacetic acid

Front 65

No growth on minimal medium identifies ______

Back 65

nutritional mutant

Front 66

If you have 4 nucleotide DNA strain with 3 nucleotide codon, how many codons are there?

Back 66

64 (4^3)

Front 67

20 building block with 2 amino acids

Back 67

400 (20^2) tubes

Front 68

Beadle and Tatum reached the one gene-one enzyme hypothesis because

Back 68

The corresponding singular genes in the bacteria to the singular pathways

Front 69

Beta-theinylalanine inhibits the growth of ____

Back 69

Bacillus subtilis

Front 70

How can a cross between parents with albinism produce normal children?

Back 70

By taking a complementation test

Front 71

Only after the embryo morphs into a distinct male form does the Lesch-Nyhan Syndrome takes effect because of the ____ chromosome

Back 71

Y

Front 72

hexA encodes _____ which cleaves a terminal galactosamine group from a brain ganglioside GM2

Back 72

N-acetyl-hexosaminidase A

Front 73

Hemoglobin has a ____ carrying function

Back 73

non-oxygen (antioxidant and Iron metabolism)

Front 74

Sickle Cell makes it that the hemoglobin's oxygen attachment_____

Back 74

goes down

Front 75

Cystic Fibrosis is prevalent among the ____ population

Back 75

caucasian

Front 76

CFTR is a ____ in cell membrane

Back 76

chloride ion channel

Front 77

To treat C-F ____ are used with other treatments to extend life to about 40 years

Back 77

antibiotics

Front 78

Symptoms of C-F

Back 78

Abnormally viscous secreted mucous, lung complications

Front 79

____ is an important tool of genetic counseling

Back 79

pedigree analysis

Front 80

____ includes assay for enzyme activity or the nature of gene mutation

Back 80

fetal analysis

Front 81

Array of ____ available to detect mutation or loss of enzyme activity

Back 81

genetic kits

Front 82

Fetal Analysis is composed of:

Back 82

Amniocentesis, chronic villus sampling, enzyme assay, and DNA testing