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Hemoglobinopathies Slide 9 - bullet point 2 Slide 11 - know gene cluster and gene family (difference) Slide 12-structure of hemoglobin subunits--know fetal and adult hemoglobin Slide 10 Slide 19 Slide 21 - know the right side - two separate bands are heterozygous Slide 25 - the alpha-globin is unstable* main point. Slide 32, 33 - alpha thalassemia; know second bullet point on slide 32; know all of 33. Slide 36 - Hemoglobin Barts -- know genotype for this, no alpha gene. Slide - 38 - alpha has 4, beta has two in a normal person (one from each parent). Slide 40 - beta+ is produced in low amounts Single Gene Disorders Slide 11 - reason for getting alkaptonuria; enzyme that causes it (Homogentistic acid) Slide 12 - remember everything alkop. but not location. Slide 15 - PKU; know lack of PAH. Know how to write out the full name for PAH and PKU. Also know treatment--decreased pheylnalalane that is an essential AA, give special milk with low F. Slide 21 - know slide--> transition mutations Slide 23- know last points, dont need to know other details. Slide 24 - symptoms Slide 25 - know first and second but not 3rd point. Slide 27- don't need to know the numbers. Slide 31 - know ASO. Slide 35 - know first bullet point - autosomal dominant Slide 40 - know Slide 41 - know LDL receptor, remember it is an integral protein Slide 42 - don't know the numbers but know the slide. Slide 44 - know all the classes, from 44 onwards Slide 51 - know it's x-linked, more incidence in males than females. Don't know factor 8. Slide 53 - important for DNA diagnosis - used to detect inversion. Slide 55 - know first and third bullet point Slide 63 - know this picture and what disease is associated with it. Know genotype and phenotype (Slide 71). Slide 69 - know Huntington Disease, know that CAG repeats is what causes it. Slide 70 - symptoms are important enough to get multiple choices! Slide 75 - know the slide. Slide 77 - know the pathological protein changes.
are cute!) and G (guys are G !) Slide 20-22 . 38. Slide 36. dup.know this for the test--know the commas and semicolon.Slide 80 . Slide 43. etc. then know C (girls X. know all the rest… ins. abnormal fertilization.know it's autosomal dominant Cytogenetics Slide 5 .only one green dot (three homologous pairs) for trisomy 21. Slide 26 . Know the slide --> causes abortion. Two are in pairs and there is only one dot in one.know all the derivatives/nomenclature.know the karyotype.Know euploidy. 37. Slide 28 . Slide 16 . 40 .Triploid. 44 .know the triad. Slide 19 .know the robertsonian translocation Slide 45 .know there are 7 groups.know isochromosome From 45.know the entire slide. . aneuploidy. Slide 29 . Slide 52 .