Genetics 28 Flashcards

Terms Definitions
Genes
>200 TNRs
affected
Apoptosis
programmed cell death
Heterozygous
Dominant & Recessive alleles
Most traits are.....
non mendelian
In mitosis/meoisis, the haploid/diploid parent cell undergoes a process in which one/two/four cells are produced that are smaller but identical to the parent cell.
mitosis/diploid/two
monosomy
One copy of a chromosome



Ligase
 seals the “nick” where replication forks meet (adds the final phosphodiester bond).
Prions
Proteins that "go bad"
rogue proteins
diseases caused by proteins with a bad structure
can turn other proteins into prions
Dispersed Indirect Duplication
(normal)ABCDEFoGHI and QRSTUoVWXYZ(altered)ABCDEFoGBAHI and QRSTUoVWXYZ
true-breeding
Homozygous for the true-breeding trait.
infertile
not fertile; unproductive; sterile; barren:
homozygous
having 2 of the same allele
What is trisomy 21 called?
Downs Syndrome
Clinical presentation of an individual with a particular genotype?
Phenotype
turner's syndrome
Average to above average intelligenceWorse social cognition skills if X chromosome derived from motherSmall ring X chromosomes are sometimes seenUsually show mental retardation Lack XIST gene  overexpression of X-linked genesA large ring chromosome with XIC  phenotype similar to Turner syndromeA small ring without XIC/XIST more severe
Positive Control
– regulation by activator proteins
adenosine
the nucleoside containing adenine as its base
Serious heart malformations: VSD (ventricular septal defect)
Edward Syndrome
haploid gneome contains
3 Gb of DNA
structural anomalies
rearrangements of genetic material within or between chromosomes, usually from breakage.
include: deletions, duplications, translocations, inversions, and rings
Functional Genomics
analysis of genomic sequences, describing the functions of genes
Diploid
Contains both sets of homologous chromosomes
idiopathic
of unknown cause, as a disease.
Ribosome
A cell organelle constructed in the nucleolus and functioning as the site of protein synthesis in the cytoplasm; Consists of rRNA and protein molecules
What condition is characterized by parathyroid hormone resistance (PHPT); thyroid stimulating hormone resistance?
Albright Heredity
promoter mutation
Alters the regulation of transcription or translation
Chromosome
- a linear end-to-end arrangement of genes and other DNA, sometimes with associated protein and RNA
FISH, CGH
Segmental aneusomy  small deletions  genetic imbalance can be detected by what methods?
Regulatory sequences
sites for binding of regulatory proteins which influence transcription rates (DNA) Recognized by Transcription Factors.
promoter
a regulatory region a short distance from the 5' end of a gene that acts as the binding site for RNA polymerase
cytosol
the fluid portion of the cytoplasm (outside the organelles)
a nucleoside covalently linked to a phosphate group, described by how many phosphate groups are attached
nucleotide
What are disorders stemming from missing or malfunctioning enzymes involved with?
Metabolism disorders
What controls which genes do/don't get transcribed and is in the receiving cell?
transcription factors
Annotation
46, XX or XY (human,
normal); 47, XX or XY, +21 (human, with Trisomy 21/Down Syndrome)
Anticipation
Earlier age of onset, more severe phenotype in succeeding generations
Different forms of a gene controlling a trait.
allele
A symmetrical bell shaped distribution found in nature is called
Normal distribution
Replication bubble
loop created by unwinding of double-stranded DNA
Phenotype
how the trait physically shows-up in the organism. Wanna know the simplest way to determine an organism's phenotype ? Look at it. Examples of phenotypes: blue eyes, brown fur, striped fruit, yellow flowers.
recombination
- production on new allele combination (to provide variation as the raw material for natural selection)
mitosis
the usual method of cell division, characterized typically by the resolving of the chromatin of the nucleus into a threadlike form, which condenses into chromosomes, each of which separates longitudinally into two parts, one part of each chromosome being
Genotypes ______ or do not ______ traits
express, express
principle of dominance
Mendel's principle that some alleles are dominant and others are recessive
What is the promary structure of proteins?
Amino Acids
Mosaicism
the occurrence of cells that differ in their genetic component from other cells of the body.  the individual will have a mixture of cells, some mutated some not. 
How early in developement mutation occurrs determines what tissue(s) and what % of cels have mutation. 
Large genes
____ because of their size are generally more likely to experience mutations
What is the most common CHROMOSOMAL CAUSE of spontaneous abortion?
Turner syndrome
LDL receptor
the following is when this is correctly working; Binds LDL  receptor mediated endocytosis  delivery to lysosomes  LDL degraded and cholesterol released for metabolic usethe following is when this is incorrectly working; Rate of clearance of plasma LDL   excess plasma LDL deposited in scavenger cells and other cell types  xanthomas and atheromas
Glc no lac
lac repressor active, no cAMP inhibition
Ectoderm
end of week 2
outside
skin & nervous tissue
recombinant frequency (RF)
the proportion (or percentage) of recombinant cells or individuals
recessive
the effects of these alleles are not seen if a dominant allele is present
DNA helicase
breaks the hydrogen bonds that exsist between bases of the two nucleotide strands of a DNA molecule
Oncogenic mutations
Lead to a gain of function mutation
(1) Gene amplification
(2) Mutation in regulatory region of gene
(3) Chromosomal translocation next to or more active promoter/enhancer
(4) Mutation in coding region of proto-oncogene
antibody
A blood protein that is produced in response to and counteracts an antigen. Antibodies are produced in response to disease and help the body fight against the particular disease. In this way, antibodies help the body develop an immunity to disease.
Dominance genetic variance
Variation in phenotype due to interactions between genes at the same locus
(dominance effects)
DNA gyrase
reduces the torque that builds up ahead of the replication fork as a result of unwinding
a stressful period during which only a few individuals of a once large population survive
pseudogenes
norm-of-reaction studies
- within a single environment, there are only small phenotypic differences between most genotypes (not consistent over wide range of environments)
- a genotype may be superior only in certain conditions
metaphase
the stage in mitosis or meiosis in which the duplicated chromosomes line up along the equatorial plate of the spindle.
Double Helix
The twisted ladder structure of a DNA molecule.
Phenotypic Heterogeneity
Mutations in the same gene result in different phenotypes
Cells require nucleotides for:
Synthesis of DNA and RNA
Energy metabolism (ATP)
Intracellular signaling (cAMP, cGMP, GTP)
Coenzymes (especially adneosine derivitives)
Activating metabolic intermediates (eg. aminoacly-AMP)
Recessive allele
- an allele whose phenotypic effect is not expressed in a heterozygote
Type IV EDS
Mutations in genes for type III collagen that alter synthesis, secretion and structure
Dihybrid cross
genetic cross in which 2 traits are tracked
roles up into its own tube to form brain and spinal cord
neurectoderm
Mismatch repair
normal DNA repair process. A piece of one strand is cut and an enzyme uses the remaining strand as a template. causes gene conversion
RNA processing mutation
base change affects the processing of the primary RNA transcript to form the final mRNA
autosomal
A locus on any chromosome but a sex chromosome. Not sex-linked.
Pyrimidine Dimer
an example of a UV light induced mutation, which makes thymine or cytosine (TT and CC) bond together
species in which males have multiple mates
population bottle necks
adenovirus
any of a group of DNA viruses that cause eye and respiratory diseases.
Autosomal Recessive inheritance
Two copies of a disease allele are required for an individual to be susceptible to expressing the phenotype.
affected males=affected females
25% chance offspring will inherit 2 allele and therefore have phenotype
25% chance offspring will not inherit copies of disease allele and will not express [henotype or be a carrier.
50% chance the offspring will inherit one cpy of the disease allele and willbe a carrier
i.e sickle cell anemia and Cysitc fibrosis
O type
what blood type is given if there is an absence of a terminal sugar; the allele of this blood type has a 1 bp deletion causing a frame shit and null transferase activity
How does erythropoietin regulate erythropoiesis?
It activate a specific signal transduction pathway via the Epo receptor expressed on erthroid progenitor cells
Results of Down Syndrome
reduction of IQ, general health and life expectancy. Poor motor control, cheerful personality, broad flat face, fold corner of eyes
What is the treatment for classic galactosemia?
Avoidance of dairy products
Staggered cuts produced by enzymes like HinIII and EcoRI, are called
sticky ends-better for geneticists because what fits in to those areas more specific--every DNA fragment generated has the same base sequence at the 2 sticky ends
Diploid Set
The full set of 23 homologous pairs of chromosomes (2 or each kind or 46)
Homologous staining regions (HSR)
These do not band normally and contain multiple, amplified copies of a particular DNA segment
Relationship between punnett squares and probability problems.
Punnett squares are used to predict and compare the genetic variations that will result from a cross. Probability predict the average outcome of a large number of events.
Introns contain 3 sequences
5' splice site, 3' splice site, Branch point
What about the genetics of Huntington's causes a variation in the degree of severity?
Mutation is a triple repeat expansion – the more repeats the more severe the disease
what is the the applied genetics impact on medicine?
genetic basis for disease, molecular understanding, treatments
*24. One form of color blindness in humans results from an X-linked recessive gene which is false?
Heterozygous females transmit the allele causing color blindness to all of their daughters
What phenotype is absent in KO mice that don't express EKLF DNA-binding protein?
No adult globin (expressed red cells)
In what direction does dna pol 3 produce the product strand? why can't it go in other direction?
5' to 3'
proofreading needs energy, which is only there going this direction
Tell three steps in how identical twins are formed.
One egg is fertilized, the egg divides into two separate embryos, and each embryo develops into a baby.
6 digits in a pattern of 4,3,2-2,3,4 (mirror image) form.
when another ZPA is added 180 degrees away from original ZPA
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