| Terms |
Definitions |
|
chromosomes
|
|
|
proteins
|
western blotting
|
|
C
|
cytosine, or cytidine
|
|
cytokinesis
|
division of the cytoplasm
|
|
Oogonium
|
2n
precursor to egg cells
|
|
Heteroduplex Analysis (CSGE)
|
Amplify
Denature
Single Strand
Cold
Re-nature (can see the extra nucleotides, due to genetic problem).
See that some bands are different on gel.
|
|
alleles
|
alternative versions of a gene
|
|
nondisjunction
|
the unequal partitioning of chromosomes into gametes during meiosis
|
|
Endoderm
|
Inside
lining of organs, liver, pancreas
|
|
hydrocephalus
|
abnormal accumulation of cerebrospinal fluid (CSF) in the cavities of the brain.
|
|
Non-linkage describes the inheritance patterns for 2 genes on the same chromosome, when the expected frequency for crossover between the loci is at least one. The observed inheritance patters for non-linked genes on the same chromosome is the same as for
|
non-linkage.
|
|
norepinephrine
|
a neurotransmitter, released by adrenergic nerve terminals in the autonomic and possibly the central nervous system, that has such effects as constricting blood vessels, raising blood pressure, and dilating bronchi.
|
|
sex chromosome
|
a chromosome that determines sex.
|
|
What genetic disease is characterized by bleeding into soft tissues, muscles, and weight bearing joints after even mild trauma and may continue to for days?
|
Hemophilia
|
|
Extra or missing chromosomes assoc with spontaneous abortion and birth defects
|
Numerical
|
|
maternal
|
DMD caused by deletions is 80%
|
|
Proteome
|
entire collection of proteins an organism can make. Much larger than genome. Largersize related to alternative splicing, RNA editing, and posttans. Covalent mod. Proteins produced depends on cell type, stage of development, and enviro. Conditions.
|
|
constitutive heterochromatin
|
specific regions of heterochromatin always present and in both homologs of a chromosome
|
|
What is the fertilized egg called?
|
zygote
|
|
Phenotype
|
The physical trait that you see.
|
|
DNA methylation
|
methylation of cytosine reisdues inhibits transcription. inactive X in mammals tends to be methylated
|
|
Linkage maps
|
low resolution, requires observable phenotypic effects
recombinant and parental map untis like we did in chap 5
|
|
Homologous
|
Male parent has a corresponding chromosome from th
|
|
binary fission
|
fission into two organisms approximately equal in size.
|
|
budding
|
asexual reproduction in which a part of the parent organism pinches off and forms a new organism
|
|
monohybrid cross
|
hybridization using a single trait with two alleles (as in Mendel's experiments with garden peas)
|
|
An infant presents with constipation, abdominal distention and vomiting, what genetic condition is characterized by this?
|
Hirschsprung Dz
|
|
50%
|
The recurrence risk for an autosomal dominant disorder is ___. Because of independence, this risk remains constant no matter how many affected or unaffected children are born
|
|
Features of Fragile X?
|
Mental retardation, learning disablities, autistic like behaviors (hand flapping, poor eye contact, self abuse) anxiet unstable moods behavior problems ADD/ADHD, obliivious to danger, seizsures, loose joints, large ears, long face
|
|
Galactose
|
this terminal sugar gives B type antigen
|
|
Termination
|
end of RNA synthesis when RNA-DNA hybrid of open complex is forced to separate. In bacteria, is either ρ dependant or ρ independent.
|
|
multimeric structure
|
a structure composed of several identical or different subunits held together by weak bonds
|
|
biparental zygote
|
a Chlamydomonas zygote that contains cpDNA from both parents; such cells generally are rare
|
|
in oogenesis cells receive = amounts of genetic material but NOT receive = amounts of ________
|
cytoplasm
|
|
Explain anticipation.
|
Condition that shows frequency and severity in subsequent generations.More frequency=more severity
|
|
What does the ectoderm form?
|
skin, hair, nails
|
|
Nonsense Mutation
|
mutations that change a codon for an amino acid into a nonsense codon (one of the three mRNA sequences—UAA, UAG, UGA)
|
|
Mitochondrial inheritance:
Pedigree characteristics?
|
(1) Mitochondrial DNA (mtDNA) inherited from the mother only (sperm contributes no mitochondria to the zygote)
(2) Passed on to both sons & daughters
(3) Mitochondrial diseases are extremely varialbe in presentation (depends on the relative proportions of normal & mutant mtDNA in the cells making up the different tissues)
|
|
Variable expression
|
a genetic mutation associated with more than oe phenotype
Phenotypic variablity.
|
|
genetic variance
|
variation in phenotype due to environmental (nongenetic) differences among
individuals
|
|
DNA ligase
|
joins adjacent Okazaki fragments and the leading strand into a continuous segment of DNA, by forming a
phosphodiester bond
|
|
Where is the Huntington gene located
|
chromosome 4
|
|
SNP haplotypes
|
chromosomal segment defined by the specific array of SNP alleles that it carries
--> haplotypes can be used to reveal the map position of a gene of interest
--> can be used to track genome segments through generation and correlate these segments with the trait in question
|
|
xenobiotic
|
a chemical or substance that is foreign to an organism or biological system.
|
|
genotype
|
the genetic makeup of an organism as indicated by its set of alleles
|
|
DNA contains information. DNA to RNA to protein=
|
information transfer
|
|
Heteroplasmy
|
When a cell has some mitochondria that have a mutation in the mtDNA and some that do not.
The proportion of mutant mtDNA molecules determines both the penetrance and severity of expression of some diseases.
|
|
mRNA
|
The DNA code is transcribed into ____ which then leaves the nucleus to be translated into protein
|
|
How many babies are born with sickle cell in the US?
|
1000
|
|
bronchiectasis
|
cystic fibrosis can be classified as a Pulmonary disease Initially chronic obstructive lung diseaseLater stages leads to _____
|
|
Genetic Linkage
|
The tendency of alleles of different genes on the same chromosome to be inherited together.
|
|
Morula went through how many mitotic division?
|
2^4
4 divisions
|
|
retrovirus
|
an RNA virus that replicates by first being converted into double-stranded DNA
|
|
cross-pollination
|
transfer of pollen from the flower of one plant to the flower of another plant
|
|
DNA ligase backbone
|
joins okazaki fragemnts by sealing nicks in the sugar-phosphate of newly synthesized DNA
|
|
Amniocentesis
Risk of miscarriage?
When is it done?
|
Risk of miscarriage: 1/200
Women over 35 (Risk of chromosome abnormality is 1/190 or more)
Taken typically 15th to 16th week LMP (Can be done earlier 10-14 weeks LMP ins some centers)
|
|
oncovirus
|
A class of retroviruses that cause a cell to become cancerous.
|
|
The activity of DNA Polymerase that removes incorrectly incorporated nucleotides is called
|
proofreading repair
|
|
coding sequence
|
part of mRNA translated into amino acids
|
|
in genetics, one form of a character (eye color is a character - brown eyes are a trait)
|
transitions
|
|
Qualitative (simple) trait
|
the variance within each genotypic class is smaller than the difference in phenotype
|
|
chorea
|
any of several diseases of the nervous system characterized by jerky, involuntary movements, chiefly of the face and extremities.
|
|
Gene Expression
|
The activation of a gene that results in the formation of a protein
|
|
multiple alleles
|
three or more alleles exist in a population for a given gene
|
|
PCR "ARMS"
|
Example of a PCR stand alone test:
- The forward primer is designed at it's 3' end to match allele B, but not A. If B is present in target DNA, an amplicon will be produced in PCR replication. A complimentary ARMSPCR is also performed; the forward primer is designed to match A allele and not B.
|
|
mRNA (messenger RNA)
|
an RNA molecule transcribed from the DNA of a gene, a protein is translated from this RNA molecule by the action of ribosomes,
|
|
A beta 42
|
this is increased in serum of individuals with mutations in βAPP
|
|
X linked dominant
|
rare
can be lethal in males
females only need one copy to express it
|
|
What is the result of an absent TDF?
|
XY females
|
|
Source of nucleic acid
|
GL: Genomic DNA, will be the same from all tissues and developmental stagesc: mRNA that is converted into double-stranded cDNA, will be different for each tissue and developmental stage
|
|
co-dominant alleles
|
Two different alleles at a locus are responsible for different phenotypes, and both alleles affect the phenotype of the heterozygote. For example, consider the situation where there are three alleles A,B, and O that determine human blood type. Three possible genotypes are AA, BB, OO that correspond to the phenotypes of blood type A, B, and O respectively; Two other genotypes are AO and BO that correspond to blood types A and B, respectively because the O allele is recessive, The remaining genotype is AB, corresponding to blood type AB. Both the A and B alleles contribute to the phenotype of the heterozygote. Thus the alleles A and B are said to be co-dominant.
|
|
Main difference in translation for prokaryotes and eukaryotes and how this can be an advantage
|
ribosomal subunits very different
allows anitibiotics to inhibit bacterial translation
|
|
"Characteristics acquired or lost during an organisms lifetime through use or disuse can be passed on to offspring." Incorrect because phenotypes.
|
law of independent assortment (Mendelâs second law)
|
|
transposon
|
a segment of DNA that is capable of inserting copies of itself into other DNA sites within the same cell.
|
|
Angelman and Prader-Willi syndrome
|
Both due to imprinting issues in 15q11-q13
PWS - paternally imprinted genes not expresses
AS - maternally imprinted genes not expressed
Both cases - mostly due to deletion in that region; some have uniparental disomy; some have imprinting issues
Test - karyotype with FISH (deletion), methylation-specific PCR (imprinting defects); DNA polymorphism testing (UPD)
|
|
spectral karyotyping
|
Very large deletions ( 2 – 4 Mb) visible cytogeneticallyMultiple genes affectedChromosome/chromosome translocations detected by
|
|
What are/were hegehog, notch, TGFß, and Wnts considered?
|
They're now considered inducing reagents… they were once considered peptide growth factors,,, or affectors of the signaling pathways that are regulated by growth factors
|
|
Number of (bp) for every 360 degree twist of the molecule
|
10 bp distance
|
|
RECIPRICAL CROSS
|
a pair of crosses in which the traits of the two parents differ with regard to sex (ex: red eyed female fly cross with white eyed male fly- recip. cross would be white eyed female crossed with red eyed male)
|
|
Induced mutations are usually cased by
|
chemicals, drugs, radiation, UV light
|
|
X or Y chromosomes; one pair in a normal somatic cell
|
Sex chromosomes
|
|
What are polytene chromosomes? Why are they useful? Why are they so big? How used in mapping?
|
Polytene chromosomes are chromosome bundles that result from repeated cycles of chromosome duplication without nuclear or cell division. This process is called endoreduplication. This enables the polytene chromosomes to become up a thousand times the size of the same chromosomes in meiosis or in the nuclei of ordinary somatic cells. The homologues pairs become tightly fused together. Because they are so large, the characteristic binding patterns are very easy to see when the chromosomes are stained. This allows geneticists to identify any segment of a polytene chromosome. In Drosophila melanogster you can count 5000 band and interbands in the four polytene chromosomes. Each of these band has about 30,000 base pairs of DNA, enough to encode several average size proteins. Through DNA cloning and sequencing, geneticists have found many bands can house up to 7 chromosomes and that genes are also found on the interbands. There large size also helps to easily see mutations.
|
|
Synonymous (silent) substitution
|
a mutation in the DNA that results in an altered mRNA swquence but NO CHANGE in the polypeptide sequence
|
|
What functional RNA is used to process rRNA?
|
snoRNA (small nucleolar organizer)
|
|
What gene mutations cause Hemophilia A and B?
|
mutations of F8 and F9 genes
|
|
how many of the human chromosomes are maternally and paternally derived autosomes
|
22 maternally and 22 paternally
|
|
34) In Mendel's monohybrid cross of a purebred white-flowered plant and a purebred purple-flowered plant, what was the genotype and phenotype of the F generation?
|
Genotype – Pp; Phenotype - purple
|
|
How does Gleevec work on CML?
|
Gleevec binds the ATP pocket of the Abl kinase and inhibits its activity and shuttling off the leukemic fusion protein
|
|
what is capped to tell cell its RNA?
capped with what?
this is essential for what?
|
7 methyl gaunosine cap
mRNA
essential for binding to ribosome and ago
|
|
What happens if disruption in secreted ligand?
|
birth defects, can be fatal to embryo, one example is holoprosencephaly, a mutation in Shh.
|
|
What are the 2 steps of charging a tRNA?
what proofreads aa?
|
1. amino acid + aminoacyl synthetase (specific for aa) + ATP
2. activated aa + tRNA (also specific)
aminoacyl synthetase proofreads
|
