Difference between revisions of "Robbins and Cotran 9th Edition Questions"
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== Chapter 1: The Cell as a Unit of Health and Disease== | == Chapter 1: The Cell as a Unit of Health and Disease== | ||
{{hidden| Short Answer Questions | | {{hidden begin| Short Answer Questions | | ||
{{hidden|How much of the human genome is coding and what does it code?|Of the 3.2b basepairs, there are 20,000 genes that comprise about 1.5% of the genome that code for proteins (enzymes, structural components, and signaling molecules used to assemble and maintain all the cells in the body}} | {{hidden|How much of the human genome is coding and what does it code?|Of the 3.2b basepairs, there are 20,000 genes that comprise about 1.5% of the genome that code for proteins (enzymes, structural components, and signaling molecules used to assemble and maintain all the cells in the body}} | ||
{{hidden|What do we think that the rest of the genome does?|80% of the genome binds proteins, implying that it is involved in regulating gene expression, related to the regulation of gene expression, often in a cell-type specific fashion.}} | {{hidden|What do we think that the rest of the genome does?|80% of the genome binds proteins, implying that it is involved in regulating gene expression, related to the regulation of gene expression, often in a cell-type specific fashion.}} | ||
{{hidden|List the major classes of functional non-protein-coding sequences found in the human genome.|1. Promoter & enhancer | {{hidden|List the major classes of functional non-protein-coding sequences found in the human genome.| | ||
*1. Promoter & enhancer | |||
*2. Chromatin binding site structures | |||
*3. non-coding regulatory RNAs | |||
*4. Mobile genetic elements (transposons) | |||
*5. telomeres | |||
*6. centromers. }} | |||
{{hidden|What are the two most common forms of DNA variation in the human genome?|1) Single nucleotide polymorphisms (SNPs) | {{hidden|What are the two most common forms of DNA variation in the human genome?| | ||
*1) Single nucleotide polymorphisms (SNPs) | |||
*2) copy number variations (CNVs)}} | |||
{{hidden|What are the possible implications of SNPs.|1) regulatory = alters gene expression | {{hidden|What are the possible implications of SNPs.| | ||
*1) regulatory = alters gene expression | |||
*2) Correlation with disease states when in close proximity with altered genes | |||
*3) association used to define linkage disequilibrium,?}} | |||
{{hidden|Define epigenetics.|Heritable changes in gene expression which are not caused by alterations in DNA sequence.}} | {{hidden|Define epigenetics.|Heritable changes in gene expression which are not caused by alterations in DNA sequence.}} | ||
{{hidden|List the 6 types of epigenetic changes.|1) Histone & histone modifying factors (Histones organize chromatin into heterochromatin and euchromatin | {{hidden|List the 6 types of epigenetic changes.| | ||
*1) Histone & histone modifying factors (Histones organize chromatin into heterochromatin and euchromatin | |||
*2) histone methylation | |||
*3) histone acteylation | |||
*4)histone phosphorylation | |||
*5) DNA methylation | |||
*6) Chromatin organizing factors.}} | |||
{{hidden|What is the function of micro-RNA (mi-RNA)?|It does not encode protein, instead they function primarily to modulate the translation of target mRNAs into their corresponding proteins, and are responsible for post-transcriptional silencing of gene expression.}} | {{hidden|What is the function of micro-RNA (mi-RNA)?|It does not encode protein, instead they function primarily to modulate the translation of target mRNAs into their corresponding proteins, and are responsible for post-transcriptional silencing of gene expression.}} | ||
Revision as of 17:26, 27 May 2015
Chapter 1: The Cell as a Unit of Health and Disease
Chapter 2: Cellular Responses to Stress and Toxic Insults: Adaptation, Injury and Death
Short Answer Questions
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Chapter 3
Chapter 4
Chapter 5
MC cause of spontaneous abortion is ?
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1% of all newborn infants possess a gross chromosomal abnormality and 5% of people <25y present with
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Mutation
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List and describe 4 broad categories of human genetic disorders:
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ii. Often highly penetrant (large proportion of pop with gene has disease) b. Chromosomal disorders i. Structural or numerical alterations in autosomes and sex chromosomes ii. Uncommon, high penetrance c. Complex multigenic disorders i. Interactions between multiple variant forms of genes and environmental factors (polymorphisms), poly genic means disease when many polymorphism present d. Single gene disorders with nonclassic patterns of inheritance (not mendelian) i. Disorders resulting from triplet repeat mutations ii. Mutations in mitochondrial DNA iii. Those influenced by genomic imprinting iv. Those influenced by gonadal mosaicism]] |
List and describe the possible outcomes of a point mutation in a coding region?
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| [[a. Missense mutation – pt mutation changes amino acid code, conservative when the amino acid is preserved, non conservative when replaced with another amino acid, b. Nonsense mutation – makes a stop codon ]] |
List and describe the possible outcomes of point mutation or deletion in a non-coding region.
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List and describe the possible outcomes of deletions and insertions.
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i. Tay Sachs disease: 4 base pair insertion in Hexosaminidase A gene ]] |
List and describe the possible outcomes of trinucleotide repeat mutations.
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[[a. Usually G&C, dynamic and increase during gametogenesis, “RNA stutters”,b. Fragile X – CGG 250-4000, Huntinton’s Disease ]] |
List and describe three examples of inheritance of single gene mutations
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| [[a. AD – manifested in the heterologous state, one parent of index case is usually affected, males and females affected and both can transmit conditioni. De novo cases may not have affected parentii. Penetrance = fraction of people with gene who have the traitiii. Variable expressivity = those with mutant gene have variety of phenotypesiv. Often age of onset is delayed so can reproduce before die from diseasev. Biochem mechanisms1. Reduced production of a protein or dysfunctional/inactive protein2. Involved in regulation of complex metabolic pathyway subject to feedback inhibition3. Key structural proteins (collagen and cytoskeleton of RBC)a. May be a dominant negative , e.g. osteogenesis imperfecta4. Gain of function are rare, 2 formsa. Increased in proteins normal function (excess enzyme activity)b. Huntinton’s diseas (abn protein accumulates, toxic to neurons)b. ARi. Largest category – both alleles at a locus are mutated1. Expression is uniform, complete penetrance common, early onset, unaffected carrier family members, mostly enzymesc. X Linkedi. All sex linked, and almost all are recessive , if Y Chromosome affected usually infertile males > no progenyii. Male expression b/c hemizygous, daughter carriers with variable phenotype because of lionization of 2nd X e.g G6DPiii. Dominant . vitamin D resistant rickets]] |
Stopped at P142