What type of banding involves dark-stained G bands that represent DNA. Light bands that represent protein
Definition
G-banding
Term
type of flourescent banding, also has dark stained G bands
Definition
Q banding
Term
type of banding in which the darkly stained portions are PROTEIN, and light portions are DNA
Definition
R-banding (think "reverse" of G banding)
Term
type of banding in which the arms of the DNA are extracted, and only the center of the chromosome remains and is stained
Definition
C banding
Term
what is the purpose of staining chromosomes in a karyotype?
what types of nuclei can be used to make a karyotype?
Definition
to reveal structural anomalies (defects) // any nucleus
Term
what is a method of sampling fluid surrounding the developing fetus by inserting a hollow needle and withdrawing suspended fetal cells?
Definition
Amniocentesis
Term
What is the method most commonly used for diagnosing fetal genetic conditions in the 16th week of pregnancy?
Definition
Amniocentesis
Term
what is the most common method of sampling fetal chorionic cells by inserting a catheter through the vagina into the uterus? Usually preformed in the 8th or 9th week of the pregnancy?
Used in diagnosing biochemical and cytogenetic defects in embryo.
Definition
Chorionic Villus Sampling (CVS)
Term
What are the types of abnormalities that occur in chromosome NUMBER?
Definition
1)monoploidy - missing an entire set
2) polyploidy - multiple of normal chromosome set 3n, 4n, etc
2) Aneuploidy - 2n +1 or 2n -1
Term
what is the type of euploidy when you are missing an ENTIRE set of chromosomes? is it lethal?
Definition
Monoploidy // YES
Term
What is the type of euploidy where you have MULTIPLE sets of chromosomes? (3n, 4, or 5n)
Definition
polyploidy
Term
Which types of abnormalities are not seen in humans?
Definition
monoploidies and euploidies
Term
a type of abnormality that is defined as 2n +1 or 2n-1. So one extra chromosome or one less chromosome than normal.
Definition
Aneuploidy
Term
an anueploidy that is defined as one extra chromosome than normal. what is an example of this?
Definition
Trisomy // trisomy 21, down syndrome
Term
a type of anueploidy in which you are missing a single chromosome, one less than normal. is it lethal?
Definition
monosomy // YES!
Term
What is the only way a child can survive a monsomy defect??
Definition
if the monosomy is missing a SEX chromosome, not a autosomal chromosome
Term
how can a NONDISJUNCTION happen?
Definition
when chromosomes do not pull fully apart in anaphase 1.
Term
what is a risk factor for nondisjunction?
Definition
older egg cells
Term
is an autosomal monosomy lethal or not?
Definition
YES
Term
Is an autosomal trisomy lethal?
Definition
no, it is relatively common
Term
what is the notation for Patau Syndrome? And what is another name for it?
Definition
"47, XX, +13" // Trisomy 13
Term
is pateau's syndrome lethal or not?
Definition
YES!
Term
What disease is characterized by:
- failure to thrive
-will not cry when in need of food or anything
-multiple congenital defects like heart/respiratory problems
-cognitive defects
-During fetal development there isnt much growth at all
-small head, no eyes :(
Definition
Patau syndrome
Term
what is it called when some cells are normal, but only a few are abnormal? Because the defect happens later along the line of cell division?
Definition
Mosaic
Term
What is another name for Edward's Syndrome? is it lethal? how long do babies typically survive??
Definition
Trisomy 18 / YES / No more than 6 months
Term
which disease...
-80% are female
-receding chin
-clenched fists
-horse shoe-shaped kidneys
-renal problems
-loose skin, rocker-bottom feet
Definition
Edward's Syndrome
Term
What is another name for Down Syndrome? what is something unique about it?
Definition
trisomy 21 // it is the only trisomy that allows survival into adulthood
Term
which disease...
- rapid aging past age 40-50
-round, flat face, larger tongue, lisp
-almond shaped eyes and angled down (EPICAMPIFOLD)
- mental retardation
- shorter and heavier in stature
-Single palmer crease
Definition
Down Syndrome
Term
what is the #1 risk factor for trisomy?
Definition
Maternal Age
Term
94% of nondisjunctions occur in the _______
Definition
mother
Term
need at least one copy of which chromosome for fetus to survive in an anueploidy of the sex chromosomes?
Definition
X chromosome
Term
an increased number of which chromosomes causes great disturbances in phenotype?
Definition
X or Y chromosomes
Term
what disease is a monosomy of the X Chromosome? What happens?
Definition
Turner Syndrome // missing an X chromosome in females. (45, X)
Term
Which disease...
-results in female sterility
-loose skin around neck
-no menustration, no curves develop, no breasts, no female parts
-mental characterisitcs NORMAL
-very short in height
Definition
Turner Syndrome
Term
which disease is caused by an EXTRA X chromosome? What is the notation for it?
Definition
Klinefelter Syndrome // (47, XXY)
Term
Which disease...
-phenotypically male
-breast development
-longer arms
-high pitched voice
-testes are small so low testosterone
-low sperm production, sometimes sterile
Definition
Klinefelter Syndrome
Term
What is it called when females have mulitple X chromosomes? 46 is NORMAL: XX
what is 48?? how many X's?
Definition
poly X females // 48 has two extra X chromosomes than normal so four total
Term
the more X's a femal has, the _______ the mental capabilities
Definition
lesser
Term
What condition happens to males where they have
-a higher pitched voice
-taller than average
-severe acne
-antisocial behavior
Definition
XYY males
Term
what are the four possible changes that can occur arrangements of chromosomes?
Definition
1) Deletions
2) Translocations
3) Duplications
4) Inversions
Term
what type of chromosome problem involves extra copies of genetic material in genes? Excess of a gene?
Definition
Duplications
Term
WHat type of chromosome problem happens when a gene may fail to express? Ex:
F G H I J may become
F I H G J
Definition
INVERSION
Term
The process oftransferring geneticinformation betweencells by DNA molecules? The molecular agent of transformation is??
Definition
Transformation // DNA
Term
What was frederick Griffith's experiment? What type of bacteria did he use? Which was the harmless strain?
Definition
Strain S of the bacterium S. pneumoniae forms a capsule, is invasive and causes pneumonia
•Mice injected with living strain S died
•Mice injected with killed strain S lived
// R strain was harmless
Term
what happened to the mice injected with the living S strain?
killed S strain?
What happened to the mice injected with the living R strain?
what happened to the mice injected with the killed S strain and the living R strain?
Why?
Definition
died
lived
lived
// died. because the hereditary information from the dead S strain transferred to the living R strain, transforming them into lethal ones!
Term
who performed experiements with bacteriophages (viruses that kill bacteria), bacteria, and radioactive sulfur?
They proved that it is DNA, NOT PROTEIN, is the genetic material?
Definition
hershey and chase
Term
what type of chromosome problem involves some chromosomes exchange parts?
Definition
Translocation
Term
a chromosome problem where a whole segment is just deleted.
Definition
deletion
Term
______ is the leading cause of reproductive failures
Definition
anueploidy
Term
what is an area on a chromosome that doesn't stain? a lack of folilc acid can increase the risk of these. Pregnant women can eat more folic acid to prevent these from happening in your child.
Definition
fragile sites
Term
Which disease is the second leading cause of mental retardation?
- big ears that stick out
-long, narrow head shape
-prominent chin
- not fully PENETRANT (doesn't affect everyone with the condition)
Definition
fragile X syndrome
Term
Which gene is the one within the fragile site IN FRAGILE X SYNDROME?
which is the band section that has a break in it?
Definition
FMR1 // q27
Term
•A condition in which both copies of a chromosome are inherited from a single parent
Definition
uniparental disomy
Term
which disorder is associated with a
•A deletion of the short arm of chromosome 5 (and a meowing cry like a cat)
Definition
Cri Du Chat syndrome
Term
•A chromosomal number that is three times the haploid number, having three copies of all autosomes and three sex chromosomes
Definition
Triploidy
Term
•A chromosome that has a centrally placed centromere
Definition
metacentric
Term
•A chromosome whose centromere is placed closer to one end than the other
Definition
submetacentric
Term
•A chromosome whose centromere is placed very close to, but not at, one end
Definition
acrocentric
Term
what determines whether we are NORMAL, a CARRIER, or a VICTIM of fragile X syndrome?
what inhibits the gene when there's too many repeats so we don't get Fragile X?
Definition
The # of GCC repeats
//
Methalation
Term
in fragile x, _____ prevents the protein from being made. When protein isn't present, brain cannot develop properly in Fragile X syndrome. There is also an association between autosomal fragile sites and ______.
Definition
FMR // cancer
Term
WHO preformed this experiment:
--separated S cells into chemical components
•Each component was mixed with living R cells and injected into mice
§
§Only mice injected with R cells that had been mixed with DNA from S cells died
•When DNA was digested first with enzymes, transformation did not occur
•
§Conclusion: DNA carries genetic information
Definition
Term
what are the three parts to a nucleotide, which is the building block of DNA?
Definition
nitrogenous base // phosphate group // pentose sugar (either ribose or deoxyribose)
Term
the two types of nitrogenous bases are purines and pyrimidines.
which has one ring, and which has two rings?
which bases are purines?
which are pyrimidines?
Definition
pyrimidines have one ring // purines have two rings.
A and G
C and T (and U, in RNA)
Term
to what carbon doesn the phosphate group attach to on the pentose sugar?
what about the base?
Definition
5 // 1
Term
nucleotides are joined by _____ bonds to form polynucleotides!
they are polar molecules with a _________ at the 3' end, and a __________ at the 5' end.
§The two strands are wound around a central axis in a ____-handed helix
Definition
covalent // sugar // phosphate group // right
Term
A and T have ______ bonding sites, while C and G have _____
Definition
2 // 3
Term
what makes us unique and genetically different from the person next to us in subtle ways??
Definition
ORDER of bases! Not amount of different types of bases.
Term
•A model of DNA replication (this is the way it replicates) that provides each daughter molecule with one old strand and one newly synthesized strand
Definition
semiconservative replication
Term
§The new DNA synthesis is catalyzed by an ezyme ___________
Definition
DNA polymerase
Term
During DNA replication, the side going in the 5' to 3' direction has Okasaki fragments, the Short strands; they are sealed by ________, forming a continuous strand
Definition
DNA ligase
Term
______ _______ is relatively common, and there are three types that result in live births: 18, 21, and 13
Definition
autosomal trisomy
(autosomal monosomies are lethal)
Term
monosomy of the X chromosome is also known as ______ ______
Definition
turner syndrome // 45, X
Term
Klinefelter syndrome is a ______ _______
Definition
Sex chromosome trisomy - one extra X so its 47, XXY
Term
Individuals who have the ____ gene on their Y chromosome are devlopmentally male.
Definition
SRY
Term
XX individuals are _____ if the SRY gene had broken off an Y chromosome and attached itself to one of the X chromosomes. So, they were XX, but had the SRY gene stuck to one of the X’s.
Individuals are _______if they were missing the SRY gene from their Y chromosome.
Definition
male // XY females
Term
________ sex is determined at conception. It is the mix of sex
chromosomes you inherit (XX = female; XY = female).
Definition
genetic
Term
________ sex determines what type of ____ (testes or ovaries) does the individual possess? Typically, the SRY gene causes the gonads to develop into testes. If you lack the SRY gene, the gonads develop into ovaries.
Definition
Gonadal // gonads
Term
_______ sex: What type of _____ do you possess? Again, typically, testes produce testosterone, which causes the external genitalia to develop as a penis and
scrotum. Ovaries, secreting estrogen, cause the external genitalia to develop as a vagina and uterus.
Definition
genital
Term
_______ sex: What do you look like? Hormones from the testes and ovaries continue to be produced and at puberty, secondary sex characteristics become evident. In males, these are deeper voice, more body & facial hair, more muscle mass, etc. In females, we see the development of breasts an narrowing of the waist and broadening of the hips.
Definition
phenotypical
Term
____________ sex: What do you think you are? There are many cases of individuals who feel that they are the “wrong sex”—that they are trapped in the wrong body. Some psychological and biological research has shown that during early gestational development (before birth), the male fetus receives a “testosterone bath” in which the brain is flooded with testosterone.
Definition
sociopsychological
Term
Results in Sex-reversed individuals
Duplication of the DAX1 gene suppresses SRY gene. Ovarian development occurs. You'd never know, because everything is 100% normal female development.
Definition
Gonadal Maldevelopment
Term
SOX9 gene on chromosome 17q. Autosomal dominant condition with usually lethal bone & cartilage malformations. Two thirds of patients are sex-reversed (XY, but phenotypically male).
Definition
Camptomelic Dysplasia
Term
WT1 gene on chromosome 11p. Dominant WT1 mutations disrupt normal testicular development. Ther are male gonads, but not male genitals
9p Deletion
DMRT1 gene. Area of chromosome 9 required for notmal male development.
Definition
Denys-Drash Syndrome
Term
46,XX. Normal ovarian tissue. Ambiguous or male external genitalia. Usually due to congenital adrenal hyperplasia (autosomal recessive)
-still has ovaries, female on the inside. But male on the outside.
Definition
Female Pseudohermaphrodism
Term
Deficiency of 5 alpha-reductase. Results in feminization of external genitalia. Androgen Insensitivity Syndrome (formerly testicular feminization). X-linked. 46, XY, with normal female external genitalia.
Definition
Male Psuedohermaphrodism
Term
testosterone uses the enzyme ________ to roduce DHT, which stimulates male devlopment
Definition
5 alpha reductase
Term
both of these things result in MALE PSUEDOHERMAPHRODISM:
1) when receptor proteins dont recognize the DHT being made, individuals are XY, but FEMALE external development. No menustration.
2) Deficiency of _________ enzyme which results in feminization of external genitalia.
__________ is the study of how your genes affect the wayyour body responds to amedicine. Pharmacogeneticshelps to determinewhatthe right medicineis for you, based on your own genes.
Definition
pharmacogenetics
Term
which enzyme Metabolizes6-mercaptopurine& azathioprine? (2 DRUGS USED TO TREAT MANY CONDITIONS) Drugs used to treat a variety of conditions,from childhood leukemia to autoimmunediseases
In people with a deficiency of ____, metabolism has tofollow a different path— resulting in productionof a metabolite that is toxicto bone marrow (you lose all immunity)
Definition
Thiopurine Methyltransferase (TPMT)
Term
There are ___ different mutant alleles in 85-90% of people
Definition
3
Term
the study of drug responsein the contextof the entiregenome (all ofourgenesinall people).
Definition
pharmacogenomics
Term
what are the benfits of pharmacogentics/genomics?
Definition
1) You receive better andsafer drugs the first time.
2) Your doctorprovide you with a more appropriatedose. 3) Improve disease screening.
4) Prevent disease.
Term
A muscle relaxant & anesthetic. Normal individuals recoverwithina few minutes. Some individualstake hours to recoverand may suffer paralysis of respiratorymuscles, leading to death Those withsensitivityhave low doses of the enzyme (serum cholinesterase). Inherited as an autosomal recessive disorder
Definition
succinylcholine sensitivity
Term
primaquine and pamaquine are _____________
During WWII, certain ethnic groups, when given the drugs, sufferedmassive loss of red blood cells (Hemolytic anemia).
Seen in U.S. blacks, African blacks & Greeks X-linkedtrait causing loss of productionof glucose-6- phosphate dehydrogenase (G6PD). G6PD breaks down &inactivates peroxides No G6PD → ↑peroxides→ RBC’s burst
Definition
anti-malarial drugs
Term
The insecticide ______ is chemically inert in our bodies. However, it is convertedto paraoxon—a chemical that is toxicand affects nerve transmission.
Paraoxon is broken down by the enzyme
paraoxonase (PON1) Peoplewho are AA are resistanttoeffectsof parathion—theyproduce avery fast acting form of PON1.
Definition
parathion
Term
•The specific compound acted on by an enzyme
Definition
substrate
Term
•The specific compound that results from enzymatic action
Definition
product
Term
•The concept advanced by Archibald Garrod that many genetic traits result from alterations in biochemical pathways
Definition
inborn error of metabolism
Term
§A mutation in a gene encoding the enzyme that controls the first step in the conversion of phenylalanine to tyrosine causes ___________________ what type of mutation is it?
Definition
phenylketonuria (PKU) // autosomal recessive
Term
§Infants with PKU develop ________ before birth, then develop neurological damage when fed a normal diet containing protein
§
§A PKU diet must contain phenylalanine levels high enough for normal development, but low enough to prevent mental retardation
§
§The PKU diet should be maintained for life
Definition
normally
Term
what happens to a pregnant woman with PKU?
Definition
The high levels of phenalynine in her blood will have little effect on her, since her nervous system is already developed. But the Phenalynine will cross the placenta and cause nervous system damage in the baby.
Term
the build up of homogenistic acid which causes BLACK PEE. It is a _____ ______ trait
Definition
autosomal recessive
Term
there are ____ possible codons. and ____ of them code for amino acids. 3 of them are _____ codons
Definition
61 // 64 // STOP
Term
•A heritable trait associated with the inability to metabolize the sugar galactose
•Defect is in the encoding the enzyme GALT
•If left untreated, high levels of galactose-1-phosphate accumulate, causing cataracts and mental retardation
•Dietary treatment does not prevent long-term complications
Definition
GALACTOSEMIA
Term
galactosemia is a mulitple allele disease.
what percent enzyme activity is G+/G+?
what about G+/GD?
GD/GD?
G+/g?
GD/g?
g/g?
Definition
100% // normal
75% // normal
50% // normal
50% // normal
25% // borderline
0% // glycosemia
Term
a recessivly inherited disease, caused by mutation in gene encoding beta globin. is caused by substitution of a single amino acid in beta globin
how many nucleotides change to cause it?
how many Hb variations?
Definition
sickle-cell anemia // a single base change //
400
Term
when are gamma globins most active?
Definition
befoe birth!
Term
•An imbalance in production of globins, which affects transport of oxygen within the body
Definition
thassalemia
Term
§Treatment with an anticancer drug, ________ reactivates gamma genes!
•Fetal hemoglobin reappears in red blood cells
•Reduces the number of cells with the mutant beta globin
Definition
hydroxyurea
Term
__________begins when DNA unwinds and one strand is used as template to make a pre-mRNA molecule
Definition
TRANSCRIPTION
Term
What are the 3 stages of transcription?
Definition
1) initiation
2) elongation
3) termination
Term
•The region of a gene on a DNA molecule to which RNA polymerase binds and initiates transcription
•The nucleotide sequence at the end of a gene that signals the end of transcription
Definition
promoter region // terminator region
Term
•A modified base attached to the 5’ end of eukaryotic mRNA molecules
•A series of Anucleotides added to the 3’end of mRNA molecules
Definition
guanine cap
Poly A tail
Term
•A small RNA molecule that contains a binding site for a specific type of amino acid and has a three-base segment known as an anticodon that base-pairs with a specific base sequence (the codon) in messenger RNA
Definition
tRNA
Term
•A group of three nucleotides in a tRNA molecule that pairs with a complementary sequence (known as a codon) in an mRNA molecule
Definition
Anticodon
Term
what are the parts of the initiation complex?
Definition
•Formed by the combination of mRNA, initiation tRNA, and the small ribosome subunit
Term
•The set of proteins present in a particular cell at a specific time under a particular set of environmental conditions
Definition
proteome
Term
what causes a PRION disease such as mad-cow? or Creutzfeldt-Jakob disease in humans
Definition
the misfolding of a specific protein
Term
because of where the nitrogenous base attaches itself to the sugar in DNA....
Definition
DNA's ANTIPARALLEL structure
Term
why must the base A pair with T?
Definition
ONE IS LARGER, ONE IS SMALLER
they are chemically atttracted to one another
Term
PKU is due to ?
Definition
someones inability to produce phenlyalanine hydroxylase
Term
Sickle Cell anemia effects what areas of body?
Definition
Skull & bone
Skull & bone
exact_answernone65635
0 (with margin: 0)
0 (with precision: 0)
Between 0 and 0
margin of error +/-
0
Lungs
Lungs
exact_answernone43140
0 (with margin: 0)
0 (with precision: 0)
Between 0 and 0
margin of error +/-
0
Kidneys
Kidneys
exact_answernone83409
0 (with margin: 0)
0 (with precision: 0)
Between 0 and 0
margin of error +/-
0
Spleen
Term
Goiterous crenatism is a_______ __________ __ ________
