Despite marked molecular heterogeneity, thalessemia molecular defects are limited in each at risk population, and 4-10 mutations account for ________ of dz alleles
What is the appropriate order for molecular genetic testing in thalessemias?
1) target mut analysis 2) mut scanning 3) seq analysis
What is the most common mutation that causes hemophilia?
Unequal crossover between intronic sequences Most likely need to use protein analysis - wont be detected via sequencing or northern blotting
How many skin cells do we lose an hour?
DNA extractions include solvent based, boiling and silica based. Identify key differences.
large dsDNA, high purity, RFLP and PCR used - Solvent based = time consuming, difficult to adapt to automation - SIlica Based = 1 hr per sample, amenable to automation small ssDNA, low purity, PCR used - Boiling - 30 min per sample
What are two characteristics in nuclear DNA used in forensic profiling?
short tandem repeats (STRs) single nucleotide polymorphisms (SNPs)
SNPs are less variable than STRs. Their low mutation rate makes them great for paternity testing. When are they used to analyze DNA?
When DNA is degraded since more abundant than STRs
mtDNA is more abundant than nucDNA but there is less variation. When is mtDNA used over nucDNA?
when nucDNA degraded found on hair shafts, bones and decomposed samples
Fingerprinting process employed by the FBI uses what as CODIS core loci?
13 STR loci and one amelogenin gene (sex-linked)
Variable number tandem repeats can be detected via PCR, sequencing and ________
STR genotyping occurs via
PCR (fluorescently labeled is great!) Allelic size and ID determined with gene mapper ID software. Data presented via allele size and intensity.
What is CODIS?
combined DNA index system, can be used nationally
What are the factors that influence DNA usefulness in profiling?
- rough/smooth surface - time of contact - regularity of contact by others - shedder/nonshedder status - time since last handwash
In which situations would Y-STR profiles be useful?
- vasectomized or azzospermic males in sexual assault - samples with a lot of female DNA - male-male mixtures such as gang rape - body fluid mixes (blood/saliva)
Which is the most polymorphic? a) VNTR b) SSLPs c) STRs d) SNPs
Describe the differences between spirituality and religion
Spirituality - internal to individual, based upon individual experience, quest for meaning or connectedness Religion - organized, based upon collective experiences, holy books, institution
What are FICA questions
- Faith and Belief - Importance - Community (part of religious community, anyone really important to you) - Address (how would you like me to address this in your care)
when is a discussion of spirituality NOT welcome? a) pt is seriously ill and may die b) pt is newly diagnosed with or suffering from serious illness c) pt is newly diagnosed with or suffering from mild illness d) patient is suffering grief over loss e) none of the above - always welcome
Describe the kinetic approach to diagnosing anemia
Mechanism responsible - Decreased production (iron deficiency, bone marrow problem, low erythropoietin) - Increased destruction (hemolysis due to bad transfusion) - Blood loss (trauma, GI bleeding)
DDX is developed based on RBC size then narrowed based on ___________
cell morphology, retic count
What are morphological differences between Reticulocytes and RBCs?
larger, blue tint, lack central pallor
What are morphologies seen in beta thalessemia trait?
target cells, hypochromic, microcytic
Which of these would NOT cause normocytic anemia? a) iron deficiency b) blood loss c) bone marrow suppression d) renal insufficiency e) hyperthyroid
Which of these would NOT cause macrocytic anemia? a) iron deficiency b) alcohol abuse c) folate deficiency d) vitamin b12 deficiency e) liver disease
a) iron deficiency - see in microcytic and normocytic
Hypersegmented neutrophils are seen in what?
What are common sx of anemia?
fatigue, DOE, dizziness, poor feeding in infants, bleeding (heavy menses, melena, hematochesis, hematuria)
What are common physical findings in anemia?
orthostatic HTN, tachycardia, pallor, jaundice, murmur, splenomegaly, liver changes
Which of these would NOT cause microcytic anemia? a) iron deficiency b) cu deficiency c) zn poisoning d) hypothyroid e) thalessemia
d) seen in macro and normo
How can you differentiate between males and females by looking at neutrophils?
Females - barr bodies (drumsticks) behind lobes Males - more lobes
From which blood vessel would you see bright red blood and increased pressure? a) artery b) vein