Genetics Exam 3 Flashcards

Terms Definitions
gametes
Reproductive Cells
Phenotype
what you see
POC
Products of conception
 
 
 
Pericentric Inversion
 
 
 
Includes the centromere
An organism's genetic makeup.
Genotype
Angelman
Severe mental retardation Inappropriate laughter Seizures Jerky gait “Happy puppet” syndrome
Term meaning - central centromere
Metacentric
Myotonic dystrophy
Autosomal dominant myopathyMost frequent muscular dystrophy of adult lifeProgressive muscle weakness and wasting with
Features: male, tall, disproportionately long limbs, gynecomastia, small testes, learning disabilities, sterile
Klinefelter Syndrome
Turner syndrome
sex aneuploidy, 45X,0
Only affects females, 
Monosomy X
Trait
Each Variant for a character
Genes
units of inheritance usually occurring at specific location, or loci, on a chromosome. A gene may be made up of hundreds of thousands of DNA bases. Genes are responsible for hereditary characteristics.
KARYOTPE
display of micrographs of the metaphase chromosomes of a cell, arranged by size and centromere position
X-Linked Dominant Disorders
-Vitamin D resistant Rickets
-Incontinentia Pigmenti



Alleles
 different variations of the same gene
DMD
what disease does this charcterize; Age of onset: male children at 3-5 years of age (I = 1/3500 )Slowly progressive muscle weakness, resulting in awkward gait, inability to run quickly, inability to climb stairsPseudohypertrophy of calves  increase in size of the calves as muscles replaced by fat and fibrous connective tissue
Give 2 examples of AD diseases.
achondroplasiaNF1
how long does metaphase last?
3 minutes
site-specific recombinase
an enzyme that catalyzes intermolecule cecombination between two duplex DNA molecules at the site of a target sequence that they have in common
Transcription
nucleusRNA polymerase binds to DNA promoter; unzips, reads; adds complementary RNA nucleotide, Product is pre-mRNAintrons: strands/sequence that don't code for anything, are spliced outexons: cooling regions where specific genes are foundmRNA makes into cytoplasm
genomics
Study of the DNA sequence, organization, function and evolution of genomes.
two chromosomes undergo recombination where there is DNA seq. homology
Illegitimate recombination
amino acids
organic molecules combined in a specific sequence by the ribosomes to form a protein
Punnett square
diagram showing the probabilities of the possible outcomes of a genetic cross
Paean
A joyous song or hymn of praise
Uniparental disomy
Can be due to complementation, monosomic rescue, trisomic rescue, or mitotic error and rescue
Translocations
is the interchange of genetic material between non-homologous chromosomes and are of two types:-Reciprocal -Robertsonian
frameshift
a mutation that alters a gene's reading frame
C II
is cofactor lipoprotein lipase, the enzyme that metabolizes chylomicron and VLDL
Release Factors
recognize stop codons, 3d structure similar to tRNAs – BACTERIAL: RF1 (UAA, UAG), RF2 (UAA, UGA) RF3 (binds to GTP and helps facilitate termination) EUKARYOTIC: eRF (recognizes all 3 stop codons)
Base pairing uses what kind of bond?
hydrogen
amplification
the production of many DNA copies from one master region of DNA
uridine
the nucleoside having uracil as its base
polyploidy
more than 2 complete sets of chromosomes (common in plants)
enhancers
a base sequence in eukaryotes and eukaryotic viruses that increases the rate of transcription of nearby genes; the defining characteristics are that it need not be adjacent to the trancribed gene and that the enhancing activity is independent of orientation with respect to the gene
Chaperone
A protein that allows proper folding of comples polypeptides
Down Syndrome
trisomy 21. flat nasal bridge, prominent epicanthal folds, brushfield spots, mental retardation. heart deffects cause life expectancy to be around 50
leukemia
Cancer of the developing blood cells in the bone marrow. Leukemia leads to rampant overproduction of white blood cells (leukocytes); symptoms usually include anemia, fever, enlarged liver, spleen, and/or lymph nodes.
Deliberate alteration of the genome for treatment of disease is called 1.-----.
gene therapy
How many stop/ nonsense codons are there?
3
random changes in allele frequencies resulting from establishment of population by a very small number of individuals
frequency-dependent selection
Sex chromosomes in a normal male somatic cell
XY
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
transgenic animals
animals that have DNA from another organism inserted into their genome
When is Xeroderma pigmentosum diagnosed?
seen initially in toddlers
 
 
 
Haploinsufficiency
The term for a condition where having only one copy of a wild-type gene does not produce a wild-type phenotype in an otherwise diploid organism. For haploinsufficient genes, the relative amounts of gene product is important.
acrocentric
p arm consists of satellite DNA (rDNA + telomere)
colchicine
drug used to increase the number of cells in metaphase in karyotpe analysis
Local population
– a subpopulation more likely to breed with each other. Usually separated by geographic barriers
Punnett square
a grid used as a graphic representation of the progeny zygotes resulting from different gamete fusions in a specific cross
amino acid
a peptide; the basic building block of proteins (or polypeptides)
______ of the autosomes are among the most clinically important of the chrosomsome abnormalities.
aneuploidies
What is an increased number of cells without obvious change to tissue?
hyperplasia
Describe Transcription
- RNA polymerase binds to promoter gene and DNA unwinds- RNA polymerase moves down one side of DNA and and puts in RNA base pairs- RNA polymerase reaches terminator and stops process- RNA and RNA polymerase are released and DNA rewinds
DNA composition
each chain composed of 4 nucleotides, each of which contains a deoxyribose residue, a phosphate and a pyrimidine or a purine base
hybridization
Base pairing of two single strands of DNA or RNA.
co-repressor
A small molecule that binds with an aporepressor to create a functional repressor molecule
template strand
The DNA strand that provides the pattern, or template, for ordering the sequence of nucleotides in an RNA transcript.
parametric versus nonparametric analysis
parametric: assume mode of inheritancenon-parametric: based on allele sharing
Study of heredity - i.e., the characteristics inherited by children from their parents
Genetics
self-pollination
the transfer of pollen from the anther to the stigma of the same flower, another flower on the same plant, or the flower of a plant of the same clone.
Chromosome Theory of Inheritance
generalization that genes are located on chromosomes and that the behavior of chromosomes during meiosis and fertilization accounts for inheritance patterns
Which type of neural tube defect is described as failure of fusion of the arches of the vertebrae in the lumbar region?
Spina bifida
nuclear enzymesfunctional RNA
Sections of the primary RNA are removed by ____, and the remaining sections are spliced together to form the ____ that will migrate to the cytoplasm
Centimorgan (cM)
a unit of distance in a linkage map
Biological species concept
species is a group of individuals whose members can interbreed to produce viable fertile offspring.
how long is G2 phase of cell cycle?
3 hours
An allele that is masked when a dominate allele is present.
Recessive Allele
Does a loss or a gain of chromosome material have a more significant consequesce
loss
what's an allele?
alternative form of gene or DNA sequence at locus
How many proteins are bound to the trp operon when tryptophan and glucose are present?
1
aminoacyl-tRNA synthetase
An enzyme that joins each amino acid to the appropriate tRNA.
Average concentration...
per cell is only one molecule per cell
human genome project
project to identify all base pairs in the human genome
sex chromosome aneuploidy
Among live born infants approx 1 in 400 males and 1 in 650 females have some form of _____.
Eukaryotic transcription factors (proteins that bind to DNA and affect transcription) are complex proteins that can have many different functions. In class we discussed four different parts of these proteins each of which has a different function. Descri
The DNA binding domain of a transcription factor determines what specific DNA sequence the factor binds to and thus where in the genome the factor binds and which genes it regulates.
what happens in presence of notocord?
brain and spinal cord development
Polypoid cell
when a euploid cell has more than the diploid (46) number of chromosomes
what happens in the presence of an extra notocord?
2 embryos develop
What chromosomes undergo robertsonian translocation
13, 14, 15, 21, and 22
What are nucleotides composed of?
one sugar, one phosphate, and a nitrogenous base
How is SCNT accomplished
by taking an embryo and emptying its DNA and replacing it with an adult nucleus --> leading to a nuclear transfer blastocyte… could be used for neuro-degenerative, hamatopoietic and heart disease
CAAT box and GC rich regions
promoter regions that occur sometimes. farther down than TATA from initiation site
single snp vs haplotype methods
haplotype can be more powerful than single SNPs when LD is exploited, but single SNP may be more powerful when it is actually the causal SNP
Most common population that is affected with CRC?
90% of cases are ppl OVER 50
In Translation every three bases without punctuation codes for what? What does Dr. Kral refer to this as?
Amino Acid / The code of life
what were the characteristics and traits of the pea plants?
plant height (long or short stems)
flower position along stem (axial or terminal)
pod color (green or yellow)
pod appearance (inflated or constricted)
seed texture (smooth or wrinkled
seed color (yellow or green)
flower color (purple or white)
What is the shape of DNA? RNA?
DNA = Double HelixRNA = SIngle Stranded
At birth, what may be indicative of cystic fibrosis, as it is found in 20% of pts?
20% have a meconium ileus at birth
* over the long term, generates an ENDLESS VARIETY of genotypic combos that increase evolutionary potential
* FACILITATES REPAIR of damages DNA because errors on one chromo can be repaired by copying intact sequence on the homologous chromosome
First, an RNA copy of a single gene is made (transcription). Then, the nucleotide sequence of the RNA copy (messenger RNA) is translated into the amino acid sequence of the polypeptide
Genes are expressed in a 2 step process:
hemizygous
X^A males
Metafemale?
XXX; normal female
These speed up reactions.
Enzymes
What does southern blotting detect?
 
northern blotting?
 
Western blotting?
Southern-DNA
Northern-RNA
Western-protein
intron
noncoding part of mrna,spliced out
bacteria
single circular chromosome, single origin of replication
centrosome
the anchor in the cell
Triploid?
3 copies of every chromosome.
DiGeorge syndrome
22q11 deletion
CATCH 22 +thymic, parathyroid, and cardiac defects
Which type of neurofibromatosis is associated with phenochromocytomas?
NF1
Guanine pairs with what in DNA/RNA?
Cytosine
genotype
indivdual's allelic constiution at a locus
Deformations
1. torticollis 2. lateral neck webbing
Homozygote
an individual or genotype with identical alleles at a given locus on a pair of homologous chromosomes
Theoretical units of inheritance on chromosomes
Gene
chloroplast genome
~120-220 kilo~140 genes4 rRNAs30 tRNAs90 protein coding genes, 20 for photosynthesis of these
Prophase 1
five stages: leptotene, zygotene, pachytene, diplotene, diakinesischromosome pairing occurs in leptotene and zygotenesynaptonemal complex(holding homologous chromosomes together) occurs in pachytenecrossing over= diplotene
3 domains of organisms
Eubacteria, archaea, eukaryia
the processing of thinking & discussing ISSUES OF RIGHT & WRONG
ethics
Heterochromatin?
dark bands; mostly genes; mostly repetitive DNA.
Robertsonian translocation?
2 different acrocentric chromosomes lose their short arms and fuse the long arms into 1 long chromosome.
Collagen?
protein found in connective tissue; formed from 3 polypeptides.
Genetic counseling?
explains single gene inheritance patterns, recurrence risks, multifactorial disorders, prenatal diagnosis.
Edward's syndrome
47, +18
Slightly related to maternal age
Allelic heterogeneity
similar or identical phenotypes caused by different mutant alleles at the same locus
What protein is defective in achondroplasia?
FGF3 receptor
What chromosome when mutated produces ADPKD?
Ch. 16
meiosis
cell division process in which haploid gametes are formed from diploid germ cells
Malformations: hands/feet
1. Campltodactyly 2. Ulnar deviation of fingers (Freeman-Sheldon) 3. Longitudinal skeletal defects 4. Duplication of digits 5. Syndactyly 6. Polysyndactyly 7. Localized overgrowth
Hirsutism
excessive or unwanted hair in women; hair is usually coarse and dark
The sum of probabilitys of all mutually exclusive events is
1
Metaphase 1
homologous pairs of chromosomes line up along the metaphase plate
How are humans studied in genetics?
pedigree analysis
T or F. Introns may contain genes?
TRUE.
Telomeres?
region at the end of chromosomes; TTAGGG repeat; gets shorter with each round of replication; short telomeres are associated with aging.
Genetic engineering?
manipulation of genes for practical purposes.
Herpes virus?
long term expression, infects nervous tissue.
Cri-du-chat syndrome symptoms
Mewing cry in infancy, microcephaly with wide set eyes, mental deficiency, epicanthal folds, and cardiac abnormalities
etiology of G6PD deficiency
enzyme deficiency in pentose-phosphate shunt, x-linked recesseive
What are the four main trinucleotide repeat disorders?
Huntington's
Myotonic dytrophy
Fragile X
Fredrich's Ataxia
What disorder can be diagnosised by putting DNA in a folate deficient bath or methotrexate followed by southern blot?
fragile X
examples of regulatory genes
promoter – bind RNA polymerase-before every structural gene properly orient the polymerase, give start point enhancer silencer
somatic
a cell other than those of the gamete-forming germline, in humans those are called haploid
Skeletal dysplasias of limbs
1. Inadequate bone growth (longitudinal shortening) 2. Bone overgrowth (exostoses)
Lyonization
term used for the phenomenon of X inactivation
Chemical which makes up the genes on the chromosomes
DNA
Exponential Distribution
Prob(T<x)= 1 -exp(-xa)a= per time of unit rate of risk(assumed constant)
3 areas that geneticists study
Transmission genetics. Molecular genetics. Population genetics.
The YOUNG of a person, animal, or plant
offspring
What do you call a sheep neurological disease that is thought to be transmitted through eating infected meat?
Scrapie
About how many cases of Mad Cow Disease have there been?
200,000
Mismatch repair?
DNA polymerase checks for a mismatch and fixes it while the DNA strand is being replicated; usually fixes microsatellite lengths.
Gene therapy: endothelium?
insert genes to fix hemophilia, diabetes, pituitary dwarfism.
Prenatal screen?
tests embryos or fetuses from a population for increased risk of a condition; a pregnant woman's blood is tested for elevated levels of a protein indicating increased risk for a neural tube defect.
Soy bean plants?
contain extra peanut protein; removed from the market because people allergic to peanuts are allergic to modified soy beans.
etiology of Marfan syndrome
disorder of fibrillin, mutation in FBN1 gene, most are family specific (no common mutations), autosomal dominant
Which blotting procedures use a DNA probe?
southern and northern
In familial hypercholesterolemia what is the genetic defect?
abnormal or absent LDL receptor
Type of amino aciduria MSUD
branched chain amino aciduria- thiamine
chromatid
is one of the two identical copies of DNA making up a duplicated chromosome, which are joined at their centromeres, for the process of cell division (mitosis or meiosis).
Malformation: longitudinal skeletal defects
1. Triphalangeal thumb 2. Ectrodatyly 3. Monodactyly
Housekeeping genes
genes expressed in most or all cells because their products provide basic functions
Binomial Distribution
n trials, each with probability p of successexpected # of successes n x pProb(k successes)=[n!/{(n-k)!k!}]p^k (1-p)^(n-k)
Allele
one of two or more alternate forms of a gene
The section of DNA that codes for one specific trait.
gene
T or F. Scientists have been able to use RNA interference to destroy a particular RNA?
TRUE.
What is mRNA?
messenger RNA. Stuff made from DNA during transcription.
T or F. The more mutant bacteria there are, the more mutagenic the chemical is.
TRUE
Human artificial chromosome (HAC)?
small, fake human chromosome to potentially be used in human cells; holds up to 10,000 kb.
T or F. In rats, they have repaired severed spinal cords with rat embryonic stem cells; also muscle stem cells to fix muscular dystrophy?
TRUE
What are the three surviable trisomies with names and chromosome?
Down 21
Edwards' 18
Patau's 13
Minor anomalies: joints
1. Genu varum (bowleg) 2. Genu valgum (knock-knee)
autosomal recessive pedigree pattern
equal frequency in males and females, skips generations
Describe mRNA processing?
1. Methylated mRNA cap, 2. Poly A tail, 3. Processing
What is RNA interference?
transcribing both strands of DNA leads to double stranded RNA which marks regular RNA for destruction.
Base excision repair?
repairs 1-5 bases at a time; usually replaces damage from free radicals.
Pluripotent Stem Cells?
can become any cell in the body; embryos are these.
What three diseases/disorders are down's patients at risk for?
Drinking age is 21--> may need AAA
 
Acute lymphoblastic leukemia
Atrial Septal Defect (and VSD)
Alzheimers at early age
 
A false positive occurs when a test
misidentifies individuals as being higher risk, when they are actually not at higher risk.
Autosomal dominant pedigree pattern
equal frequency in both sexes. Do not skip generations
What is a silencer?
its a protein that binds to the enhancer and stops transcription
Germline gene therapy?
alters the DNA of a sperm or egg; fixes the children.
What chromosome and what mechanism causes the mutation in Cri-du-chat and Williams syndrome?
 
How would you test for this type of mutation?
Cri-du-chat is ch. 5
Williams is ch. 7
 
BOTH ARE MICRODELETIONS
 
TEST w/ FISH
x chromosome inactivation
in each female cell, all but one X are randomly inactivated, creating a mosaic in a femalealso called Barr Body
What are SINEs (Short Interspersed Elements)?
100-500 bases that are reinserted into a chromosome; Alu element.
What percentage cutoff value defines if two genes are linked?
two genes are linked if they crossover together more than 50% of the time.
x-linked recessive trait pattern in pedigree
appear more in males, not passed form father to son
What is the Start codon?
the first 3 letters of the actual gene (AUG).
why are humans the best model organisms for genetic study
solve problems related to us, we know the most about our own traits
Physicians have a "duty to warn" others if...
1. harm from keeping it outweighs the harm of breaching it, 2. relatives at risk can be identified, 3. failure to warn places the person at great risk of harm.
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