Human Heredity Final

Front 1

Sister Chromatids Separate

Back 1

Meiosis II

Front 2

HOmologous Chromosome Pairs are separated

Back 2

Meiosis I

Front 3

Replicated Chromosomes are lined up singly at the equatorial plate

Back 3

Meiosis II

Front 4

Synapses and crossing over occur

Back 4

Meiosis I

Front 5

Synapsed and homologous pairs line up at equatorial plate.

Back 5

meiosis I

Front 6

prior to cell divisioneachchromosome replicates its genetic material. the products of replication are connected at the centromere and are called

Back 6

sister chromatids

Front 7

two sources of stem cells

Back 7

cord blood, bone marrow

Front 8

animal sperm cell contains 12 chromosomes
a) somatic cells ___ chromosomes
b)haploid number (n) would be ____
c)diploid number (2n) would be ____

Back 8

somatic cell 12
haploid number (n) 12
diploid number (2n) 24

Front 9

totipotent vs pluripotent

Back 9

totipotent can give rise to ANY type of cell pluripotent gives rise to a group of different types of cells

Front 10

genetically reprogrammed somatic cells different from their original fate

Back 10

induced pluripotent cells

Front 11

degrades debris and recycles cell contents

Back 11

lysosome

Front 12

releases energy from nutrients

Back 12

mitochondria

Front 13

separates DNA from the rest of the cell

Back 13

Nucleus

Front 14

Scaffold for protein synthesis

Back 14

ribosome

Front 15

IEM lysosomal enzyme. infant loses motor skills, sight, hearing, death usually w/in 3 yrs

Back 15

Tay Sachs

Front 16

cannot digest 3 particular amino acids these accumulate in their bloodstream. frequent vomiting which prevents babies from growing properly, disorder can be controlled by limiting the specific amino acids in the diet.

Back 16

maple syrup urine disease

Front 17

IEM absence of peroxisomal enzyme children experience low blood sugar, muscle weakness, heartbeat irregularities

Back 17

ALD adrenoleukodystrophy

Front 18

cytoskeleton defect that affects the connection between the layers of skin. ease with which skin blisters

Back 18

epidermolysis bullosa

Front 19

RBS membranes disintegrate (ankyrins) anemia results as spleen destroys the defective RBS faster than marrow can replace them

Back 19

Hereditary spherocytosis

Front 20

headaches, inflamed liver, slurred speech, greenish ring around the irises of the eye. cannot excrete excess copper absorbed from food.

Back 20

wilson disease

Front 21

headaches, inflamed liver, slurred speech, greenish ring around the irises of the eye. cannot excrete excess copper absorbed from food.

Back 21

Wilson Disease

Front 22

enzyme required to break down the building blocks of DNA is virtually absent. results in a buildup of nucleotides which are then converted to uric acid (orange crystals in the urine)

Back 22

Lesch Nyhan Syndrome

Front 23

abnormal sodium chloride channels that do not embed into the cellular membranes. salt trapped in lung cells generates a thick mucous that results in frequent lung infections and difficulty breathing. digestion disrupted because of blocked ducts in the pancreas

Back 23

cystic fibrosis

Front 24

hemophilia

Back 24

X linked recessive blood clotting disorder

Front 25

sickle cell disease

Back 25

Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.)

Front 26

CGH

Back 26

informally been called werewolf syndrome. X linked dominant trait

Front 27

G6PD deficiency

Back 27

Hemolysis is the premature distruction of red blood cells (RBC's) that can lead to hemolytic anemia when the bone marrow cannot compensate for the loss of red blood cells. genetic disorder, not a disease, which can cause hemolytic anemia

Front 28

xeroderma pigmentosum

Back 28

autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient.[1]:574 In extreme cases all exposure to sunlight must be forbidden, no matter how small

Front 29

muscular dystrophy

Back 29

Muscular dystrophy is a group of disorders that involve muscle weakness and loss of muscle tissue that get worse over time.

Front 30

marfan syndrome

Back 30

Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. DOMINANT

Front 31

reproductive cells are ______
zygote is _______

Back 31

haploid
diploid

Front 32

mitosis order and function

Back 32

prophase-DNA coils tightly, shortens and thickens the chromosomes enables them to separate easier.
metaphase-chromosomes attach to the spindle at their centromeres and align along the center of hte cell
anaphase-plasma membrane indents atthe center where the chromosomes line up. sister chromatids separate.
telophase-final stage of mitosis looks like a dumbbell.
cytokinesis-organelles and macromolecules are distributed between the two daughter cells.

Front 33

mitosis vs meiosis

Back 33

mitosis results in cells that are genetically identical to the cell that they came from

meiosis results in the formation of reproductive cells that are not genetically identical.

Front 34

autosomal trait vs. X linked

Back 34

non sex linked, X linked=SLT

Front 35

point mutation that changes a codon that normally specifies a particular amino acid into one that codes for a different amino acid is called a ___

Back 35

missense mutation

Front 36

point mutation that changes a codon specifying an amino acid into a "stop codon" in mRNA is a ________

Back 36

nonsense mutation

Front 37

change in a single DNA base

Back 37

Point mutation

Front 38

change that alters the reading frame is called a

Back 38

frameshift mutation

Front 39

4 levels of protein structure

Back 39

primary, secondary, tertiary, quaternary

Front 40

amino acid sequence of a polypeptide chain is its

Back 40

primary structure

Front 41

chemical attractions between amino acids that are close together in the structure fold the polypeptide chain into its....

Back 41

secondary structure

Front 42

secondary structures wind into larger

Back 42

tertiary structures

Front 43

proteins consisting of more than one polypeptide form

Back 43

quaternary structure

Front 44

mutation

Back 44

change in DNA sequence that is present in less than 1 percent of individuals in a population, refers to the process of altering DNA.

Front 45

mutant

Back 45

mutant refers to phenotype rather than genotype. mutant phenotype may also be an uncommon variant that is nevertheless "normal" such as redhair.

Front 46

spontaneous mutation

Back 46

usually originates as an error in DNA replication, siblings are at same risk because it was developed.

Front 47

mutation hotspots

Back 47

areas that are more likely to contain genetic mutations, where sequences are repetitive,.

Front 48

charcot-marie tooth disease

Back 48

causes numb hands and feet results from a 1.5 million base long tandem duplication.

Front 49

.tandem duplication

Back 49

two copies of a gene next to one another.

Front 50

conditional mutation

Back 50

affects the phenotype only under certain conditions. can be protective if the individual avoids exposure to the trigger symptoms.

Front 51

gaucher disease

Back 51

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase. (Ashkenazi) Jewish. It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease.

Front 52

nucleotide excision repair

Back 52

replaces up to 30 nucleotides and removes errors that result from several types of insults

Front 53

base excision repair

Back 53

replaces 1-5 nucleotides at a time specifically corrects errors that result from oxidative damage.

Front 54

mismatch repair

Back 54

enzymes proofread newly replicated DNA for small loops

Front 55

klinefelter syndrome

Back 55

XXY syndrome is a condition in which males have an extra X sex chromosome. small testicles and reduced fertility

Front 56

jacobs syndrome xxy

Back 56

male receives an extra Y chromosome, giving a total of 47 chromosomes instead of the more usual 46. Most often, the extra Y chromosome causes no unusual physical features or medical problems. Since XYY is not characterized by distinct physical features, the condition is usually detected only during genetic analysis for another reason.

Front 57

trisomy

Back 57

# Trisomy 21 (Down syndrome)
# Trisomy 18 (Edwards syndrome)
# Trisomy 13 (Patau syndrome)

there are three copies, instead of the normal two, of a particular chromosome

Front 58

familiam down syndrome

Back 58

some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Down syndrome in a fetus can be identified with amniocentesis during pregnancy, or in a baby at birth trisomy 21

Front 59

p53

Back 59

P53- molecular weight “molecule of the year”
Acts as a cell cycle protein, determines the fate of the cell repair or induce apoptosis

Front 60

proto-oncogenes

Back 60

normal version promote cell division

Front 61

oncogenes

Back 61

• Oncogenes in their mutated form. Expression at wrong time or in wrong cell type leads to cell division and cancer.

Front 62

cancer is a

Back 62

lack of cell cycle control

Front 63

Ehlers danlo sundrome

Back 63

precollagen not trimmed mature collagen cannot form.

Front 64

tautomer

Back 64

unstable base which can misform during transcription,