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193 Cards in this Set
- Front
- Back
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DNA + histones
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nucleosome
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Nucleosomes can control...
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gene expression
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If DNA is tightly wrapped, it is known as...
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heterochromatin
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If DNA is tightly wrapped...
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the genes are not expressed and are said to be silent
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The area in the nucleus that the chromosome occupies is...
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chromosome territory
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The open space between chromosomes that contains nucleoplasm is...
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interchromosomal domains
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For transcription to occur, nucleosomes need to be rewound from...
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chromosome territory to interchromosomal domains
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The rearrangment of DNA and histones is called...
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chromatin remodeling
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If heterochromatin is present...
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genes are silent and resistant to enzymes
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H2AZ is...
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placed at the ends of DNA to be transcribed
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Chromatin remodeling...
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exposes DNA for RNA Polymerase III to come in and find the TATA box or CpG islands
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The bonds between histone proteins and DNA are...
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covalent
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The addition of an acetyl group to a histone protein is...
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acetylation
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Acetylation is accomplished by....
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HATs (histone acetyltransferase)
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Deacetylation is accomplished by...
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HDACs (histone deacetylase)
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In acetylation, an ______ and an _______ bind together to form an _________; this binds to the __________ next to the _______, which could be ______ or ________ on DNA; this recruits ______ around the __________ which ________; this in turn _______ the DNA so it is exposed for _______.
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1. inducer
2. activator 3. allosteric change 4. regulatory protein binding site 5. promoter 6. TATA box 7. CpG islands 8. HATs 9. inducer-activator complex 10. acetylates 11. loosens 12. transcription |
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In deactylation, an _______ is needed to remove an ________; a _______ and _______ bind to form an _________; this binds to the _________ and recruits ________, removing all ______ and preventing _____ from being recruited.
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1. enzyme
2. acetyl group 3. corepressor 4. repressor 5. allosteric change 6. regulatory protein binding site 7. HDACs 8. acetyl groups 9. HATs |
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Addition of insulator elements...
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prevents chromatin remodeling
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Short segments of DNA attached to histones are known as...
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insulator elements
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The only insulator element known is...
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CCCTC binding factor
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If CCCTC binding factor is present....
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there is no remodeling and therefore no transcription
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The addition of a phosphate group to a histone is...
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enzymatic phosphorylation
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Enzymatic phosphorylation causes...
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DNA to be loosened
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The addition of a methyl group to a histone is...
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enzymatic methylation
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Enzymatic methylation causes...
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no loosening to occur
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Alterations to histones is known as...
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histone code
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Enzymatic phosphorylation and methylation are part of the...
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histone code
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Direct repositioning of the histone in yeast is accomplished by...
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SWI/SNF complex
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The SWI/SNF complex consists of...
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11 polypeptides that loosen binding for transcription to occur at this location
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The polymerases in the nucleus are known as...
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transcription factory
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DNA methylation occurs...
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on DNA itself
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DNA methylation is...
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tissue specific and passed down from one generation to the next
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DNA methylation causes...
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a particular gene to shut off
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DNA methylation usually occurs on...
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cytosine at position 5
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DNA methylation marks an area...
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off limits for transcription
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The amount of DNA methylation...
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varies and is about 30% in humans
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DNA methylation occurs...
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after cells become unipotent
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A heavily methylated, semi-dormant X chromosome is a...
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Barr body
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A cell that is an embryonic stem cell and can become anything and is non methylated is...
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totipotent
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A cytosine analog that cannot be methylated is...
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5-azacytidine
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A normal chromosome count (46) is known as...
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euploid
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A normal, full 2n chromosomes is known as...
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disomy
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The loss or gain of one or a few chromosomes is...
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aneuploidy
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The subsets of aneuploidy are...
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1. monosomy
2. trisomy 3. tetrasomy |
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The loss of one chromosome (45) is....
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monosomy
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The gain of one chromosome (47) is...
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trisomy
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The gain of two chromosomes (48) is...
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tetrasomy
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The gain of one or more extra sets of chromosomes is...
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polyploidy
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The subsets of polyploidy are...
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1. triploidy
2. tetraploidy |
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3N chromosomes (69) is...
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triploidy
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4N chromosomes (92) is...
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tetraploidy
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Multiples of the same genome is...
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autopolyploidy
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Multiple genomes of different species is...
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allopolyploidy
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A picture of homologous chromosomes in metaphase is...
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karyotype
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Karyotypes are used to look for...
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chromosomal defects
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To get a karyotype, you must first trigger ______ by using _________, also known as ______; then you add _______ to _________
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1. cell division
2. phytohemagglutinin 3. lectin 4. colchicine 5. stop cell division |
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Karyotypes can be used on women...
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to find abnormalities during pregnancy
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The taking of amniotic fluid for a karyotype is...
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amniocentesis
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Taking a piece of the placenta for a karyotype is...
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chorionic villi sampling
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Aneuploidy is caused by...
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nondisjunction
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Nondisjunction occurs in...
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anaphase 2
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With nondisjunction, one of the gametes has ____ chromosomes and the other has _____ chromosomes
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1. n+1
2. n-1 |
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45% of miscarriages are due to...
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trisomy
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The necessary number of genes/chromosomes to create a viable offspring is...
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dosage
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A monosomy disease consisting of only one X chromosome is...
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Turner syndrome
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Turner Syndrome occurs...
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1 in 10,000
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Underdeveloped sex organs is known as...
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sexual infantilism
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Elbows curved outward about 30 degrees is...
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cubitus valgus
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Buildup of lymphatic fluids is...
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lymphadema
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Sexual infantilism, infertility, short stature, fold of skin on neck, droopy eyelids, cubitus valgus, low hairline, wide chest, narrowing of aorta, lymphadema, spatial perception problems, and no menstruation are signs of...
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Turner syndrome
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Monosomy 7 is...
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autosomal
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A very rare condition with 45XX or 45XY without a seventh chromosome is....
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monosomy 7
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A variety of blood problems, de novo myelodysplastic disorder, dysmyelopoiesis, and dysplasia are signs of...
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monosomy 7
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A pre-leukemia disorder characterized by hypercellular or hypocellular red marrow and alot of blas cells instead of lymphocytes is...
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de novo myelodysplastic disorder
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Broken down blood cell formation system is known as...
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dysmyelopoiesis
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The blood cell formation system is..
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hematopoiesis
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Abnormal development of blood cells is..
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dysplasia
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Increased number of proerythroblasts is...
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dyserthropoiesis
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Dysmyelopoiesis causes increased numbers of...
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neutrophils, basophils, and eosinophils
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Malfunctioning megakaryocytes is...
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dysmegakaryocytopoiesis
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Megakaryocytes are precursors to...
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platelets
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At age 49, a women is likely to give birth to a down syndrome child...
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1 in 12
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Patau syndrome is also known as...
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trisomy 13
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CNS defects, poloprosencephaly, coloboma, cleft palate, mental retardation, polydactyly, rockerbottom feet, underdeveloped organs, hypotonia are symptoms of...
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Patau syndrome
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When the brain doesn't separate into right and left hemispheres, it is known as...
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poloprosencephaly
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A split in the iris, retina, cornea, or all three is...
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coloboma
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Weak muscle tone is...
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hypotonia
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Patau syndrome is due to...
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an extra 13th chromsome from the father
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Edwards syndrome is also known as...
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trisomy 18
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Hypertonia, retarded growth in othe areas, low birth weight, small head, suture in skull open, small jaw, low ears, webbed neck, congenital hip dislocation, rockerbottom feet, overlapping fingers, and malformation of organs is associated with...
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Edwards syndrome
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The females with Edwards syndrome are more likely to survive, known as...
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preferential survival
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10% of Edwards syndrome cases are...
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mosaic
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A segment of chromosome is relocated to another nonhomologous chromosome in...
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translocation
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An even exchange of chromosome segments is...
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reciprocal translocation
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A translocation that happens during prophase I and results in a normal phenotype is...
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reciprocal translocation
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The p and q arms split apart in...
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Robertsonian translocation
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Accentric fragments have...
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no centromere
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Centric fusion forms...
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metacentric chromosomes
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Robertsonian translocations result in...
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loss of genetic information, therefore a different phenotype
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Familial Down Syndrome is known as...
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translocation 14/21
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Familial down syndrome is a type of...
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Robertsonian translocation
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5% of down syndrome cases are....
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familial
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A loss of a piece of a chromosome is a...
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deletion
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Deletions occur during...
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prophase I as a result of unsuccessful crossing over
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A deletion from one end of a chromosome is...
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terminal deletion
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A deletion from the middle of a chromosome is...
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intercalary deletion
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A small piece from the chromosome deleted is...
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segmental deletion
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If less than 10% of a chromosome is missing...
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there is no effect
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Cri du Chat syndrome is characterized by...
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46 5p-
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Those with Cri du Chat have...
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terminal deletion in an area coding for TERT
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TERT stands for...
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telomerase reverse transcriptase
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TERT...
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repairs telomeres by adding sequences to keep the same length
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A rare disease characterized by mental retardation, epilepsy, ptosis, colobomas, cleft palate, retarded bone growth, hypospadias, and cyrptorchidism is...
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Wolf-Hirschhorn syndrome
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Wolf-Hirschhorn syndrome is...
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4p deletion
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Droopy eyelids is...
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ptosis
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Cryptorchidism is...
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undescended testicles
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DiGeorge syndrome is represented by...
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22q11.2
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Congenital heart defects, facial deformities, brain damage, learning disabilities, missing or underdeveloped thymus, hypocalcemia, autoimmune hypoparathyroidism, bronchospasms, dyspagia, seizures, paresthesias, and Hashimoto's disease are associated with...
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DiGeorge syndrome
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Defomation of the heart is...
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hypoplasia
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Hypoplasia of the right side of the heart leads to...
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lack of blood to the lungs and anemia
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Hypoplasia to the left side of the heart leads to...
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lack of blood to the body and ischemia
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Narrowing of the arotic valve and lack of blood flow is...
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aortic valve stenosis
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A defect in the separation of the atria is...
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atrial septal defect
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The hole in the septum is called the...
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foramen ovale
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If the foramen ovale is sealed, it is known as...
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fossa ovalis
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A hole between the right and left ventricles leading to severe anemia and ischemia is known as...
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atrioventricular septal defect
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Restriction of blood flow from the right ventricle is...
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pulmonary stenosis
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The semilunar valve of the pulmonary trunk is defective and blood flow is obstructed in...
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pulmonary valve stenosis
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The narrowing of the pulmonary artery is...
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pulmonary artery stenosis
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The narrowing of the aorta and lack of blood flow into the body is...
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aortic coarction
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Aortic coarction can lead to...
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anemia, necrosis or death
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A missing or underdeveloped thymus leads to...
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decreased immunity
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The thymus is the site of...
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T lymphocyte maturation
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The most numerous T lymphocyte that is the first to be imprinted by macrophages and imprints other T cells and B cells, and secretes MMIF are...
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helper T cells
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MMIF...
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causes chemotaxis and keeps macrophages in place
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Cytotoxic T cells...
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look for foreign objects
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Suppressor T cells...
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help bring immune system to homeostasis
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Memory T cells...
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are used in secondary immune response
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Gamma/delta T cells...
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go after cancer phosphoantigens
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Hypocalcemia is...
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low calcium levels
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Antibodies agains the parathyroid gland is...
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autoimmune hypoparathryoidism
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Antibodies against thryoglobin and cretinism during childhood are asociated with...
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Hashimoto's disease
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15% of known pregnancies end in...
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spontaneous abortions, 80% in first trimester
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Turner syndrome ends in abortion...
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18%
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Triploid ends in abortion...
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17%
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Trisomy 16 ends in abortion...
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16%
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Tetraploidy ends in abortion...
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6%
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Tirsomy 22 ends in abortion...
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6%
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Trisomy 21 ends in abortion...
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4.7
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Trisomy 15 ends in abortion...
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4.2%
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Trisomy 14 ends in abortion...
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3.7%
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Trisomy 18 ends in abortion...
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3%
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Translocation ends in abortion...
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3%
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A tumor of the retina that can result in osteosarcoma is...
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retinoblastoma
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Retinoblastoma is...
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autosomal dominant, 13q14
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Prader Willi syndrome is...
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15q12
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Fanconi anemia is...
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autosomal recessive
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Lack of red and white blood cells and platelets due to bone marrow failure is...
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pancytopenia
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A missing radius that leasd to leukemia and lymphoma is...
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radial aplasia
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Radial aplasia is also known as...
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Bloom syndrome
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MDS affects...
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myeloblasts and red blood cells
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MDS is also known as...
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dismyeloporesis
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Those with MDS tend to survive to...
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40-50 years old
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Blood appears as myeloblasts and has next to no immune response in...
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acute nonlithosidic leukemia
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Antigen presenting cells are...
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macrophages
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An extra chromsome is...
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trisomy
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Trisomy results from...
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nondisjunction most commonly during prophase I in meisosis
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Trisomy is most commonly attributred to...
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females
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47XXY-49XXXXY is...
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Klinefelter syndrome
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Those with Klinefelter syndrome have...
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female and male characteristics
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Underdeveloped sex organs, gynecomastaia, small head, nonagressive and super intelligent is attributed to...
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Klinefelter syndrome
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Underdeveloped mammary gland is...
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gynecomastaia
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47XXX is...
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trisomy X
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Trisomy X results from...
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nondisjunction
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Underdeveloped secondary sex characteristics are associated with...
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trisomy X
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XYY is...
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Jacob syndrome
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Double aggressiveness associated with Jacob syndrome was demonstrated by...
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Richard Specks
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46XX-46XY is...
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Down syndrome
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Down syndrome is an additional...
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chromosome 21
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Many Down syndrome children are...
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spontaneously aborted
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Severe mental retardation, epicanthia, microcephaly, brushfield spots, double ureter, kidney cysts, deformed fingernails, cryptorchidism, ventricular septum defect,deaf, poor muscle tone, semian crease on palm associated with...
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Down syndrome
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Epicanthia is...
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thick eye lids
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A mutation on chromsome 7 and 13 can be seen in...
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Down syndrome
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Chronic myelogenous leukemia is from a mutation on...
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C-ABL gene on chromosome 9
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In chronic myelogenous leukemia, _____ on chromsome ____ is translocated into ____ on chromsome ____ which creates a structure known as _________
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1. C-ABL gene
2. 9 3. BCR gene 4. 22 5. Philadelphia chromsome |
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Fragile X syndrome is also known as...
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Martin-Bell syndrome
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The most common form of inhertied mental retardation is...
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Fragile X syndrome
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Affected males have long narrow faces and protruding chins, enlarged ears and large testicles wiht...
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Fragile X syndrome
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Fragile X syndrome is...
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dominant trait
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_____ trinucleotide repeats of ____ is repeated in untranslocated area adjacent to coding sequence of gene in fragile X syndrome
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1. FMR-1
2. CGG |
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Small cell carcinoma occurs on chromsome...
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3
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11p15 is...
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aniridia
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Aniridia is also known as...
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Wilms tumor
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