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64 Cards in this Set

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Sister Chromatids Separate
Meiosis II
HOmologous Chromosome Pairs are separated
Meiosis I
Replicated Chromosomes are lined up singly at the equatorial plate
Meiosis II
Synapses and crossing over occur
Meiosis I
Synapsed and homologous pairs line up at equatorial plate.
meiosis I
prior to cell divisioneachchromosome replicates its genetic material. the products of replication are connected at the centromere and are called
sister chromatids
two sources of stem cells
cord blood, bone marrow
animal sperm cell contains 12 chromosomes
a) somatic cells ___ chromosomes
b)haploid number (n) would be ____
c)diploid number (2n) would be ____
somatic cell 12
haploid number (n) 12
diploid number (2n) 24
totipotent vs pluripotent
totipotent can give rise to ANY type of cell pluripotent gives rise to a group of different types of cells
genetically reprogrammed somatic cells different from their original fate
induced pluripotent cells
degrades debris and recycles cell contents
lysosome
releases energy from nutrients
mitochondria
separates DNA from the rest of the cell
Nucleus
Scaffold for protein synthesis
ribosome
IEM lysosomal enzyme. infant loses motor skills, sight, hearing, death usually w/in 3 yrs
Tay Sachs
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.
maple syrup urine disease
IEM absence of peroxisomal enzyme children experience low blood sugar, muscle weakness, heartbeat irregularities
ALD adrenoleukodystrophy
cytoskeleton defect that affects the connection between the layers of skin. ease with which skin blisters
epidermolysis bullosa
RBS membranes disintegrate (ankyrins) anemia results as spleen destroys the defective RBS faster than marrow can replace them
Hereditary spherocytosis
headaches, inflamed liver, slurred speech, greenish ring around the irises of the eye. cannot excrete excess copper absorbed from food.
wilson disease
headaches, inflamed liver, slurred speech, greenish ring around the irises of the eye. cannot excrete excess copper absorbed from food.
Wilson Disease
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)
Lesch Nyhan Syndrome
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
cystic fibrosis
hemophilia
X linked recessive blood clotting disorder
sickle cell disease
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.)
CGH
informally been called werewolf syndrome. X linked dominant trait
G6PD deficiency
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
xeroderma pigmentosum
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
muscular dystrophy
Muscular dystrophy is a group of disorders that involve muscle weakness and loss of muscle tissue that get worse over time.
marfan syndrome
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
reproductive cells are ______
zygote is _______
haploid
diploid
mitosis order and function
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.
mitosis vs meiosis
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.
autosomal trait vs. X linked
non sex linked, X linked=SLT
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 ___
missense mutation
point mutation that changes a codon specifying an amino acid into a "stop codon" in mRNA is a ________
nonsense mutation
change in a single DNA base
Point mutation
change that alters the reading frame is called a
frameshift mutation
4 levels of protein structure
primary, secondary, tertiary, quaternary
amino acid sequence of a polypeptide chain is its
primary structure
chemical attractions between amino acids that are close together in the structure fold the polypeptide chain into its....
secondary structure
secondary structures wind into larger
tertiary structures
proteins consisting of more than one polypeptide form
quaternary structure
mutation
change in DNA sequence that is present in less than 1 percent of individuals in a population, refers to the process of altering DNA.
mutant
mutant refers to phenotype rather than genotype. mutant phenotype may also be an uncommon variant that is nevertheless "normal" such as redhair.
spontaneous mutation
usually originates as an error in DNA replication, siblings are at same risk because it was developed.
mutation hotspots
areas that are more likely to contain genetic mutations, where sequences are repetitive,.
charcot-marie tooth disease
causes numb hands and feet results from a 1.5 million base long tandem duplication.
.tandem duplication
two copies of a gene next to one another.
conditional mutation
affects the phenotype only under certain conditions. can be protective if the individual avoids exposure to the trigger symptoms.
gaucher disease
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.
nucleotide excision repair
replaces up to 30 nucleotides and removes errors that result from several types of insults
base excision repair
replaces 1-5 nucleotides at a time specifically corrects errors that result from oxidative damage.
mismatch repair
enzymes proofread newly replicated DNA for small loops
klinefelter syndrome
XXY syndrome is a condition in which males have an extra X sex chromosome. small testicles and reduced fertility
jacobs syndrome xxy
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.
trisomy
# 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
familiam down syndrome
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
p53
P53- molecular weight “molecule of the year”
Acts as a cell cycle protein, determines the fate of the cell repair or induce apoptosis
proto-oncogenes
normal version promote cell division
oncogenes
• Oncogenes in their mutated form. Expression at wrong time or in wrong cell type leads to cell division and cancer.
cancer is a
lack of cell cycle control
Ehlers danlo sundrome
precollagen not trimmed mature collagen cannot form.
tautomer
unstable base which can misform during transcription,