129 terms

Genetics Midterm

Tuesday, October 16, 2012
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epigenetics
the study of changes in gene function that are heritable and that do not involve a change in DNA sequence
gene
a section of DNA which is less than 5% of the genome, AKA the recipes for proteins
genome
comprehensive set of instructions for making an organism
locus
the location of a gene
allele
various forms of a gene at the same locus
proteome
all the proteins in a cells
23,000
how many genes do we have?
23
how many pairs of chromosomes do we have?
p arm
the name for the short arm of a chromosome
q arm
the name for the long arm of a chromosome
telomere
section of the chromosome which gets worn away in each division and is in place to protect the good DNA
pyrimidine
what type of base is cytosine?
pyrimidine
what type of base is thymine?
purine
what type of base is adenine?
purine
what type of base is guanine?
histone
an anchor for DNA to wrap around when condensing into a chromosome
polymerase
enzyme which elongates the chain and proofreads
helicase
enzyme which unzips the DNA
ligase
enzyme which seals DNA back together
metacentric
type of centromere location which is in the center of the chromosome
submetacentric
type of centromere location which is slightly off center
acrocentric
type of centromere location which is very close to the top of the chromosome
telocentric
type of centromere location which is at the very top of a chromosome
ploidy
the total number of chromosomes
haploid
name used to represent a cell with 1/2 the number of chromosomes
diploid
name used to represent a cell with the normal number of chromosomes
polyploidy
name used to represent a cell having additional whole sets of chromosomes
telomerase
enzyme which stops the shortening of the telomeres
genotype
a person's traits based on genes
phenotype
a person's traits based on physical appearance
coding region
part of the genome which contains functional genes
noncoding region
part of the genome which contains repeating sections
exons
part of the mRNA actually used
introns
part of the mRNA that is not used
gene expression
process by which the cell turns on certain parts of the gene so only some proteins are made by certain cells
transcription
DNA-->RNA
sense strand
DNA strand which is the template strand/strand being read
anti-sense strand
DNA strand which comes off of the other DNA strand and is not read
promoter regions
parts of the DNA which start the signaling of protein synthesis
poly A tail
parts of the DNA which stops protein synthesis
post-transcriptional modification
process which eliminates introns
storage proteins
things that store amino acids until translation is about to begin
ribonucleases
things that break down mRNA when it is no longer needed
somatic
type of mutation which does not affect off-spring
germline
type of mutation which is given to offspring in all their cells
point mutations
type of germline mutation which changes 1 base in a sequence
silent
type of point mutation which does not alter final amino acid sequence
missense
type of point mutation which does alter amino acid sequence and function
nonsense
type of point mutation which involves an improper placement of stop code
single nucleotide polymorphisms
type of point mutation which involves small variations in the normal DNA sequence for a gene
frame shift mutations
type of germline mutation which involves missing or addition of one base which throws off the multiples of 3
hyperplasia
an increase in the number of cells
hypertrophy
an increase in size of size of cells
contact inhibition
idea that when cell membrane is touching other things everywhere it will not divide
oncogenes
type of genes which promote cell division
suppressor genes
type of genes which promote apoptosis and leaving the cell cycle
anaplastic
cell shape used to describe a cell which has no shape/differentiation
pluripotent
cell function which involves being able to become any cell type
genetic abnormalities
reason for early embryonic miscarriage
embryonic stage
prenatal stage during which vital organs are developing
embryonic stage
prenatal stage during which baby is most susceptible to birth defects due to drug use
amount of genetic material
reason for embryonic miscarriage
fetal stage
prenatal stage in which suppressor gene overcomes oncogene to prevent overgrowth
leptotene stage
stage in meiosis 1 prophase 1 in which chromatids become looser
zygotene stage
stage in meiosis 1 prophase 1 in which matching chromosomes line up
pachytene stage
stage in meiosis 1 prophase 1 in which crossing over occurs
diplotene stage
stage in meiosis 1 prophase 1 in which chromosomes recoil
diakenesis
stage in meiosis 1 prophase 1 in which the nuclear membrane disappears
primary
protein structure including amino acid sequence
secondary
protein structure including folding
tertiary
protein structure including winding of proteins to structure
quaternary
protein structure including interaction between proteins
substitution
type of point mutation in which 1 letter is substituted for another
insertion
type of point mutation which throws off reading frame by adding a base
deletion
type of point mutation which throws off reading frame by taking a base out
splice site mutation
type of mutation in which introns are translated or exons are skipped
G1
interphase stage in which the cell gathers nutrients and energy and grows
S
interphase stage in which DNA is prelicated
G2
interphase stage in which the cell creates a lot of proteins
M
interphase stage in which the cell divides
G0
interphase stage which is the resting stage
nondisjunction
a problem in which the chromosomes do not split in meiosis 2
mendelian
type of inheretence which deals with single-gene traits
codominant
a trait which requires more than 1 allele like blood type
mutation
a trait which effects multiple organs
autosomal dominant
classification of disease which is more commonly associated with an older father
50%
risk for aquiring autosomal dominant disease if one parent is affected
variable expressivity
characteristic of a disorder whose phenotype varies in severety even though the person has the exact same mutation
codominant
term used to describe the expression of both traits if one is dominant and the other is recessive
penetrance
the likelyhood that you will show signs of a disorder when you have the genotype for it based on a population
expressivity
how you will express a genotype for disease personally compared with other members of your family
x-linked recessive
classification of disorder which cannot be transmitted from father to son
x-linked dominant
classification of disorder which is always transmitted from an affected father to his daughter
autosomal recessive
classification of disorder which is usually due to an enzyme problem
autosomal recessive
classification of disorder in which the expressivity is more uniform
autosomal recessive
classification of cystic fibrosis
translocation
type of chromosomal inheritance when all or part of a chromosome is transferred to another nonhomologous chromosome
Robertsonian translocation
type of chromosomal translocation in which 2 short arms are lost and the 2 chromosomes combine
reciprocal translocation
type of chromosomal translocation in which whole parts of nonhomologous chromosomes are switched
trisomy 21
chromosomal name for Down Syndrome
trisomy 18
chromosomal name for edward syndrome
trisomy 13
chromosomal name for patau syndrome
XXY
chromosomal arrangement for Klinefelter Syndrome
X
chromosomal arrangement for Turner Syndrome
genomic imprinting
phenomenon in which DNA is not altered but the gene is not expressed
mocaism
phenomenon in which some cells have a normal karyotype while others have an abnormal one
barr body
name for the unactivated X
monozygotic
name for identical twins
dizygotic
name for fraternal twins
recurrence risk
the risk for another child in a family to be affected when one child is already affected
monosomy
genetic problem which is more common with increased maternal age
uniparental disomy
phenomenon in which both chromosomes come from 1 parent
chimera
phenomenon in which 2 eggs fuse
mitochondrial
type of disease which can only be passed on from the mother
family history
F in FGENES pneumonic for red flags for a genetic referral
group of congenital anomolies
G in FGENES pneumonic for red flags for a genetic referral
extreme presentation of common conditions
first E in FGENES pneumonic for red flags for a genetic referral
neurodevelopmental delay
N in FGENES pneumonic for red flags for a genetic referral
extreme pathology
second E in FGENES pneumonic for red flags for a genetic referral
surprising laboratory value
S in FGENES pneumonic for red flags for a genetic referral
major
type of anomolie which requires medical or surgical attention
minor
type of anomolie which does not require medical attention
malformation
classification of anomolies which is caused by a primary problem in the growth or development of a particular tissue
deformation
classification of anomolies which is caused by physical or mechanical force stopping normal development
disruption
classification of anomolies which is caused by chemicals or trauma which causes normal tissues to change
dysplasia
classification of anomolies which is caused by an alteration in size, shape, or organization of cells
syndrome
a collection of features occuring together that lead the doctor to the disease
sequence
a collection of features that caused each other
gestalt
overall picture of the patient
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