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Block 1
Week 1
112
Biology
Graduate
02/10/2009

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Term
chromatin
Definition
combination of dna, rna, and proteins arranged into chromosomes
Term
cytogenetics
Definition
study of structure and function of chromosomes
Term
Giemsa
Definition
dye used to create banding in chromosomes; dark = heterochromatin, light = euchromatin
Term
neoplasia
Definition
uncontrolled tissue growth, whatever that may be
Term
reasons for chrome analysis
Definition
ab growth, family history, infertility, >35 years, stillbirth, neoplasia
Term
how is karyotype determined?
Definition
stained nucleus in metaphase, arranged accoding to banding patttern, many tissue types usable.
Term
heteroploid
Definition
any other number than 46
Term
euploid
Definition
exact multiple of haploid (n)
Term
aneuploid
Definition
not exact multiple of n, forms from nondisjunction
Term
triploid (3n) occurs most often when what happens?
Definition
two sperm one egg; or diploid egg or sperm
Term
extra maternal set =?"
Definition
partial mole, spontaneous abortion
Term
Hydatidiform mole
Definition
a growing nonviable embryo without placenta or fetus, from 2 sperm with no egg DNA
Term
Partial hydatidiform mole
Definition
fetal tissue with placenta maybe fetus, from 2 sperm with 1 egg DNA
Term
Tetraploidy is always 92,xxxx or 92,xxyy?
Definition
Yes
Term
How would you designate trisomy 21, or monosomy x?
Definition
47,xy,+21; 45,x
Term
What is FISH?
Definition
Fluorescent dna sequence to detect specific rearrangements in chrome
Term
What is chromosomal painting?
Definition
Labeling entire chrome with dye to detect complex rearragements
Term
Syntenic
Definition
genes residing on the same chromosome
Term
Linkage
Definition
tendency for alleles on same chromosome to be transmitted together in meiosis
Term
When is allele locus unlinked?
Definition
When on different chromes, even though same loci
Term
Linkage equilibrium
Definition
random association of marker and disease
Term
Do markers equate with disease in linkage analysis?
Definition
No
Term
What happens to recombination fraction as loci are closer together?
Definition
It gets smaller, from theta .5 to 0
Term
Define point, insertion, deletion mutation.
Definition
Change of single base, insert base, delete base
Term
Transcriptome
Definition
repertoire of expressed genes
Term
Proteome
Definition
collection of proteins in cell
Term
Metabolome
Definition
all metabolites in cell
Term
Physiome
Definition
physiology of cell
Term
Define silent, missense, nonsense, read-through mutation
Definition
mutation with no effect on protein, changes protein, extra stop codon, no stop codon where it needs it
Term
Polymorphism
Definition
different forms of a gene, or different common alleles that exist in a species, can be used as genetic markers, silent mutation
Term
Most common polymorphisms?
Definition
Single nucleotide polymorphism
Term
Gamete
Definition
haploid reproductive cell
Term
Which process is reduction division, meiosis 1 or 2?
Definition
Meiosis 1, 2n->n
Term
When does crossing over occur?
Definition
Prophase meiosis 1
Term
Nondisjunction in meiosis 1 what will you get? Meiosis 2?
Definition
M1: aneuploid germ cell with both parental chromes, M2: two copies of one parental chrome
Term
When does the ovum complete meiosis 2?
Definition
When sperm penetrates the egg
Term
List the cytoplasmic components that the ovum contributes to the zygote.
Definition
Nutrients, proteins, mRNA, organelles, mitochondria
Term
Elaborate the development of a sperm.
Definition
[image]
Term
Elaborate on the development of an egg.
Definition
[image]
Term
When does an ovum complete meiosis 1?
Definition
Ovulation
Term
What part of meiosis do all eggs reside in from birth?
Definition
Prophase, Meiosis 1
Term
Proband
Definition
person being screened for a genetic disease
Term
What is the mode of inheritance for: two mutated alleles, negative family history, higher frequency in ethnic groups and consanguineous matings, associated with enzymatic defects?
Definition
Autosomal recessive
Term
Mode of inheritance for: one mutant allele, family history positive, generation skipping due to variable penetrance or expressivity?
Definition
Autosomal dominant
Term
Mode of inheritance for: no male2male transmission, mother carriers, males predominantly affected?
Definition
X-linked recessive
Term
Mode of inheritance for: males/females affected equally, no male2male transmission, all daughters of affected father affected?
Definition
X-linked dominant
Term
Why is mitochondrial-linked disease variable?
Definition
Due to heteroplasmy, different proportions of normal and mutant DNA in oocytes and tissues
Term
What is restriction fragment length polymorphism?
Definition
A nucleotide change that creates or destroys a restriction endonuclease cutting site
Term
What are the two tandem repeat polymorhisms?
Definition
Variable number, 10-100bp, detected by a southern blot; and short, 2-4bp, detected by PCR
Term
Reduced penetrance
Definition
proportion of people who have the disease that express it
Term
Variable expressivity
Definition
you have disease but symptoms expressed vary
Term
Genetic heterogeneity
Definition
genetic disease that is cause by more than one mutation, mechanism, or gene
Term
What is ASO, allele specific oligonucleotide?
Definition
A short DNA probe that will hybridize to desired gene
Term
Dot blot
Definition
hybridization of a DNA probe to a specimen on filter membrane
Term
PCR, polymerase chain reaction
Definition
very sensitive technique for amplifying a specific, small region of DNA
Term
Southern blot
Definition
technique for probing larger gene structure, utilizing endonucleases, gel eletro, filters, and DNA probes
Term
What collection methods can be used for prenatal genetic testing?
Definition
Amnio, CVS, fetal cells
Term
If you do not know the gene for a disease what can you use instead of direct testing?
Definition
Linkage analysis
Term
Can direct mutation detection methods be used for unknown genes?
Definition
No
Term
Which genetic diagnostics are good for point mutations and microdeletions/insertions?
Definition
PCR
Term
Which diagnostics are good for large deletions?
Definition
Southern blot, FISH
Term
Which diagnostics are good for trinucleotide repeats?
Definition
PCR if small, Southern if large
Term
Define balanaced and unbalanced translocation
Definition
balanced - no gain or loss of DNA, unbalanced – loss or gain of DNA
Term
Robertsonian translocation
Definition
translocation of DNA between acrocentric genes 13, 14, 15, 21, 22; may be balanced or unbalanced, most common translocation
Term
Why can an embryo survive that has trisomy 10,13,21, or x?
Definition
because relative to the size of the chromosome there are fewer genes, therefore less interaction problems
Term
Acrocentric
Definition
chrome with no visible “p” arm
Term
Define the function of the 3 RNAPs, RNA polymerases 1,2,3
Definition
1, synthesis of most rRNA, 2, synthesis of mRNA, 3, synthesis of 5S rRNA and tRNA
Term
Identify the five steps of mRNA transcription
Definition
1, transcription factors recognize promoter elements, 2, recruitment of RNAP 2, 3, tissue specific activators bind to enhancers, 4, RNAP 2 fires, 5, mRNA elongation and termination
Term
What is a protein that has a DNA binding domain and activator/repressor domain and normally binds to promoter/enhancer regions upstream of genes to regulate their expression?
Definition
Transcription factors
Term
Which strand do RNAP’s bind to, template strand or antisense strand?
Definition
Trick question, they are the same thing.
Term
Which direction do RNAP’s read the template strand and which direction for synthesizing?
Definition
Read, 3’>5’, Synthesize, 5’>3’
Term
What is added to a completed mRNA to protect it from the environment?
Definition
5’ methyl cap and a 3’ polyadenylated tail
Term
Define the regions in both the untranscribed portion of DNA and the transcribed region.
Definition
Untrans, has promoters to specify start and enhacers/silencers to regulate promoter; Trans, exons are sequences in the final mRNA and introns are junk which is spliced out of first mRNA transcript
Term
What is monocistronic mRNA?
Definition
mRNA codes for only one protein
Term
Does the large or small ribosomal subunit have the machinery for peptide bond formation and translocation of the polypep chain?
Definition
Large
Term
Do antibiotics and toxins function to inhibit RNA translation?
Definition
Yes
Term
What is a vector?
Definition
An agent that can carry DNA into a cell
Term
What is a plasmid?
Definition
Circular extrachromosomal DNA capable of autonomous replication
Term
Bacteriophage
Definition
virus that infects bacteria
Term
Restriction endonuclease
Definition
an enzyme that recognizes a cleaves specific sections of DNA
Term
Technique used to detect mRNA after gel electrophoresis
Definition
Northern blot
Term
What is a modified plasmid or virus carrying a gene or cDNA into a cell to enable the protein to be encoded?
Definition
Expression vector
Term
What changes can a Southern blot identify in a genome?
Definition
Specific genes, large changes, point mutations that modify restriction enzyme sites, gene amplification
Term
What technique can be used to measure gene expression?
Definition
Northern blot, reverse transcription PCR
Term
What can a a northern blot detect?
Definition
Levels of mRNA, specific gene expression, changes in transcript size, changes in levels of expression
Term
List 3 expression systems that can produce recombinant therapeutic medicines.
Definition
Bacterial, Eukaryotic, mammalian cells
Term
Which chromosomes have the greatest number of genes?
Definition
It starts with and descends to the Y chrome
Term
Do CpG islands in chromes regulate gene activity?
Definition
Yes
Term
Is the human genome evenly spaced with genes?
Definition
No, random assortment
Term
Concordant trait
Definition
both members of a twin pair share a trait
Term
Discordant trait
Definition
members of a twin pair do not share a trait
Term
What is the term for risk of occurrence/recurrence of a disease that based on observation of families with the disease versus Mendellian ratios?
Definition
Empirical risk
Term
Familial aggregation
Definition
clustering of individuals with a disease within families
Term
What is the term for the percentage of a population variation of a trait/disease that is due to genes as opposed to the environment?
Definition
Heritability
Term
Quantitative traits
Definition
physical characterisitics measured on a continuous scale, like height /blood pressure
Term
What two approaches can be used to sort out the contributions of genetic and environmental factors of disease?
Definition
Familial aggregation and comparing concordance and allele-sharing among relatives
Term
Due both genotype and environmental factors influence the phenotypic expression of disease? Even within the same family or for “simple” disorders?
Definition
Yes, yes
Term
True or False: Common, complex diseases are due to the same set of genetic and environmental factors in each patient.
Definition
False
Term
Due a majority or minority of common, complex diseases stem from simple Mendelian genetics?
Definition
Minority
Term
Synaptonemal
Definition
Describes a ribbon-like, protein-containing complex holding chromosomes together
Term
Test to use: gene present and grossly normal structure?
Definition
Southern
Term
Test to use: is one of a number of known mutations responsible?
Definition
ASO
Term
Test to use: what mutation is responsible since no known causes found?
Definition
PCR then sequencing
Term
Differential gene splicing happens where?
Definition
mRNA
Term
cDNA
Definition
complimentary DNA
Term
hypertelorism
Definition
wide-set eyes
Term
most common form of hereditary deafness is?
Definition
Non-syndromic and recessive
Term
Are the different combinations of sequence-specific DNA transcription factors responsible for the different phenotypes expressed?
Definition
Yes
Term
What is mosaicism, and its most common form?
Definition
Two populations of cells with a different genotype, usually stemming from trisomy which occurred during develoment
Term
Elaborate on translation once the mRNA binds to the rRNA.
Definition
[image]
Term
True or False: CpG islands may act as proximal promoter elements
Definition
true
Term
what is a transcription factor?
Definition
a protein with activator/repressor binding sites that also binds to promoter or enhancer regions upstream of DNA to express or inhibit gene expression.
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