Difference between revisions of "Libre Pathology talk:Study Group"

 

{{hidden|List 5 features of SNPs.|[[Most common DNA sequence variation in humans, must occur in >=1% of a particular population, frequency of SNPs varies by groups, but responsible for >90% of human genetic variation, an can be found in any region of genome]]}}

 

{{hidden|Define a regulatory SNP versus a synonymous SNP?|[[Regulatory SNP: occur in non-coding regions e.g. promoters where they affect mRNA expression and stability, as occur in the splice site where can result in abnormal protein production]]}}

 

 

{{hidden|Define reproduciblity and accuracy of an analytical test. |<center>[[Reproducability = probability of the test repeatedly producing the same reults in the same person, Accuracy = the degree to which the observed genotype matches the true genotype]]</center>}}

 

 

==Robbins and Cotran Chapter 5 9th Edition:==

{{hidden|List and describe the possible outcomes of a point mutation in a coding region?|[[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 ]]</center>}}

 

 

{{hidden|List and describe three examples of inheritance of single gene mutations|[[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]]</center>}}

 

=== Molecular Genetic Diagnosis===

{{hidden|List three basic molecular diagnostic techniques|[[a. Karyotyping, b. Southern blot, c. Sanger DNA sequencing, d. Polymerase chain reaction]]}}

 

 

 

{{hidden|List 5 treatment defining molecular transformation, the neoplasm, and the genetic alteration|[[1. 100% of CML: BRR-ABL > Imatinib, 2. 20% of Lung Adenocarcinoma: EGFR > Erlotinib/Gefitinib, 3. 25% Infiltrative ductal carcinoma of breast HER2>Trastuzumab, 4. 50% of Melanoma, BRAF v600E > PLX4032, 5. 4% of Lung Adenocarcinoma: ALK > Crizotinib]]}}

 

 

 

 

{{hidden|What is the most common molecular alteration makes patients with EGFR mutations resistant to targetted therapies?|[[T790M]]}}

 

{{hidden|List two EGFR kinase inhibitors.|[[Gefitinib/Iressa, Erlotinib/Tarceva]]}}

 

 

 

{{hidden|What are the three most common cancers associated with BRAF mutations?|[[Melanoma 70%, Papillary Thyroid Carcinoma 50%, Ovarian serious carcinoma 30%, Colon cancer 10%, Hint Papillary architecture]]}}

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