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Genetics and Genomics Exam 1

Terms in this set (62)

genetics
study of general mechanisms of heredity and the variation of inherited traits
Genomics
study of the function of all the nucleotide present within the entire genome of a species (broader than genetics)
Adenine and Guanine
purines
thymine cytosine and urine
pyrimidines
G1
growth of the cell
s
dna replication
G2
checks everything before continuing
Dna polymerase
chain elongation and proofreading
DNA ligase
connects dna to segments
helicase
unwinds dna seperating
primase
creates a short and temporary rna that initiates new dna synthesis
SSB proteins
keep stands seperated enough for transcription
submetacentric
smaller p arm
metacentric
same size arms
acrocentric
little or no p arm
start codon
AUG- methionine
stop
UAA UAG UGA
sense strand of RNA
copies DNA exactly
Antisense strand
complementary to the sense stand actual template for mRNA
somatic mutations
cannot be passed on to children
germline mutations
can be passed on to children
silent mutation
codes for the same amino acid
missense mutation
different amino acid
nonsense mutation
code for a stop codon
frameshift
deletion or addition
Hyperplasia
tissue increase in size by increasing number of cells
hypertrophy
expansion of size by each indivudual cell
apoptosis
death of cell
atrophy
decrease in size
dysplasia
change both size and number
metaplasia
changes cell type
proto-oncogenes
regulate cell division want to divide
RAS WNT MYC ERK TRK
Tumor Suppressor
controls cell division by stopping it
x linked recessive
only happen when daughters of father who is affected and able to have children and mother is affected
P1 generation
initial parental generation
F generation
succeeding generation of offspring
combinant expression
both are dominant traits
Achondroplasia
dominant disease
ehlers-danlos syndrome
dominant
huntingtons
dominant
marfan syndrome
dominant
neurofibromatosis 1
dominant
penetrance
the chance you will receive a gene
cystic fibrosis
recessive
thalassemia
recessive
sickle cell
recessive
tay sachs
recessive
phenylketonuria
recessive
classic hemophilia
x linked recessive
duchenne muscular dystrohy
x linked recessive
hunter sundrome
x linked recessive
glucose-6-phosphate
x linked recessive
Roberstsonian translocation
Fusion of entire long arm with loss of short arm
13,14,15,21,22
balanced translocation
Edward syndrome
trisomy 18
clenched fist with overlapping fingers
patau syndrome
trisomy 13
cleft lip
extra digits on hands or feet
Klinefelter syndrome
one or more extra x's in male
turner syndrome
only one x
droopy eyelids
not able to reproduce
Balanced Translocation
right amount of DNA but located in different place
reciprocal translocation
any two chromosomes that are homologous
nondisjunction
fair for a chromosome to seperate during meiosis so that one of the new cells is missing a chromosome and other new cells have both chromosomes from the same parent
Tumor supressor genes
Rb p53 BRCA1 BRCA2
Oncogene
bad form of proto oncogene
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