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Genetics Review

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Lecture 21
2 questions with Hardy Weinberg - P2 + 2PQ = Q2 = 1; P+1 = 1
Founder effect- be able to recognize; Albino Indians within a population move from large large population to new area and now the albino allele frequency higher in new population
Heterozygous Advantage – Sickle Cell TRAIT may have advantage, RBC does not live as long so is advantageous be able to apply concept
Know how large and small populations and how genetic drift applies to each
Lecture 22
Genetic screening – what is looked for? What makes good screening test Something prevelant, treatable, something with access to care, test is accurate and reliable
PKU ---Classical vs Malignant
Galactosemia – GALT enzyme
Material PKU – mother with PKU, at child bearing age eating HIGH PROTEIN FOODS can be damaging to fetus
Associated diseases with each population group – Tay Sachs (Jewish), Thalessemia (Mediterranean, Asian), Sickle Cell (African)
If we did screening test for certain populations, which tests would be screening for?
Lecture 23
Phamacogenetics
Do not need to know specific medication names
Know the enzyme that causes
Lecture 24
Galactosemia
Glycogen Storage Disease (1 and 2)
PKU
KNOW ENZYME and TREATMENTS FOR EACH
KNOW the ex vivo and In vivo gene therapy methods; in vivo, take the direct gene an place into person; ex vivo, extract, culture cell, introduce new genetic material, select for gene, place back in the individual.
Lecture 25
Syncytiotrophoblasts – know what that group differentiates into
Picture similar to lecture Identify inner cell mass, outer cell mass, zona pellucida,
What area blastocyst FIRST implants on uterus
Blastocyst phase know what day it “hatches” (zona pellucida goes away) day 7
Cytotrophoblasts differentiate what it lies between (embryoblast and synciotrophoblasts)
Lecture 26
Implantation and fetal membranes
Know CELL ADHESION MOLECULES forms cytoskeleton proper INTERACTION and GUIDES MIGRATION of CELLS
Know that syncytiioreophoblasts hCG
Know function of yolk sac
Ectopic pregnancy Ampulla and Isthmus of uterine tube**MOST COMMON**
The most SEVERE is implantation in FALLOPIAN TUBE
Identify on picture AMNIONIC CAVITY, BILAMINAR EMBRYONIC DISK, SYNCTIOTROPHOBLASTS
Lecture 27
Trilaminar embryo
Slide with differnent PRIMITIVE GERM LAYERS
Know which organs are derived from which germ layers (MESODERM, ENDODERM,
KIDNEY malformation mesoderm (etc) 3 questions from this!!!! One from each layer Slide with SHOES and ARMS Know primitive streak and primitive groove (cranial - caudad axis) be able to identify on a picture Notochord: later becomes the Nucleus pulposis of each IV disc Lecture 28 KNOW about Spina Bifida KNOW neural crest **really important concept** there is a NON-NEURAL PART that becomes THYMUS and THYROID KNOW Embryonic folding digestive tract yolk sac opens to midgut **READ SLIDE** Which system becomes functional first CARDIOVASCULAR KNOW HEMATOPOIESIS Blood cells for developing embryo yolk sac, thymus, liver, bone marrow, spleen…. Provide development of blood system (5 different structures to know here) Lecture 29 Pharyngeal arches which structures are developed from which arch! (very similar to cell lines) “if thymus did not develop.. which arch is most likely affected?” KNOW Pharyngeal arches 1-6 **no need to know “pouches” ** there will be THREE questions on this Congenital diaphragmatic HERNIA respiratory problems when born when folding takes places, the peritoneal cavity and pericardial cavities do not close all the way. Blue skin, dyspnea, etc. KNOW WEEK 6 is when limb development takes place children born without limb (ex: thalidomide given to mother) know that the offending agent that disrupted this development was most likely introduced WEEK 6 of DEVELOPMENT. Lecture 30 HOX gene family limb development
TBOX genes know that homozygous = lethal, etc
Big concepts do not need to know all the genes within the gene families
Fragile X Syndrome – most common cause of MENTAL RETARDATION ears are placed differently, large head, PLUS mental retardation
Rhett Syndrome (X –linked; CpG binding **recessive = lethal) kids with WRITHING HANDs and other compulsive disorders
**LETHAL IN MALES

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