Exam 1

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Lab 04 - Inheritance of complex traits

Today we practiced pedigree analysis when a trait is controlled by several genes and environmental factors. Students learned how to identify a complex trait on a pedigree and to estimate the most plausible mechanism explaining the pattern of inheritance observed in a pedigree.

We introduced the concepts of threshold traits and genetic liability, and used them to calculate the risk of parents conceiving a child affected by a multifactorial disease (an example of a threshold trait)

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Lecture, chapter 6 - Cytogenetics

Today we finished the chapter on cytogenetics with a discussion of the effects of abnormalities on the structure of chromosomes, rather than in the number of them.

Among structural abnormalities we focused on translocations (reciprocal and Robertsonian). We also discussed uniparental disomy (UPD) and the presence of fragile sites.

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LectureChapter 5 - Polygenic and multifactorial inheritanceChapter 6 - Cytogenetics

We finished the chapter on polygenic and multifactorial inheritance with a discussion of the importance of twin studies in studying heritability and on some human complex traits whose relative importance of genetic and environmental factors is still not completely understood: skin color, IQ, and propensity to obesity

We started the chapter on cytogenetics, with an overview of chromosome structure and nomenclature, and the process of making a human karyotype. We followed by discussing abnormalities in chromosome number: polyploidy and aneuploidy (we described some specific cases).

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Lab 03 - Epistasis and hypothesis testing

Genetic corn

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In this lab we used genetic corn to test a prediction based on Mendelian principles, about the inheritance of two genes.

The color of corn kernels, although just one trait, is controlled by two separate genes (R and C) that affect pigmentation in the aleurone, which may or may not be pigmented. If transparent the color of the kernel will be yellow or white, and when pigmented it will be purple or red. In our case we only had purple and yellow kernels in cobs that were obtained as the F2 generation from a cross from double homozygote parent plants (RRCC x rrcc).

By doing a count of purple and yellow kernels, students were able to predict the phenotypic proportions of yellow and purple kernels. The predictions were compared to the observations and tested using a chi-square test, with a significance level of 5% (α=0.05).

When the hypothesis (observed values = expected values) was rejected, results were explained as the consequence of an epistatic interaction that prevented the R and C genes of showing the phenotypic proportions predicted by Mendelian inheritance.

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Lecture, chapter 5 - Polygenic and multifactorial inheritance

We continued the lecture we started yesterday, on polygenic and multifactorial inheritance, a field of genetics that departs from the Mendelian approach. Although individual genes behave according to Mendel's principles, traits that are controlled my more than one gene or are affected by the environment don't show Mendelian proportions in the phenotype of offspring generations.

We defined complex traits, including polygenic and multifactorial, and we introduced the concept of quantitative genetics. We discussed some concepts that are important in the field, like phenotypic distribution, distribution of environments, norm of reaction, and heritability.

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Lecture, chapter 4 - Pedigree analysis in human genetics

Today we finished chapter 4.

We covered the remaining modes of inheritance in human mendelian genetics: X-linked recessive, Y-linked, and mitochondrial. We studied examples of some of those.

We than discussed variations in phenotypic expression, mainly age-related phenotypic expression, penetrance, and expressivity, and provided a few examples, including , interestingly enough, one of the students! (good times!)

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Lab 02 - Mendelian genetics

Today we completed lab 2, in which principles of mendelian genetics were studied through computer simulations of fruit fly (Drosophila melanogaster) crosses.

We used DrosophiLab to simulate crosses between wild type flies and mutants for the autosomal genes vestigial wings and sepia eyes, and the X-linked gene white eyes. By doing so students were able to demonstrate the principles of segregation and independent assortment.

• Video on how to use DrosophiLab

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Lecture, chapter 4 - Pedigree analysis

Following on the pedigree analysis chapter, we discussed the advantages of using a catalog of human Mendelian traits: The Online Mendelian Inheritance In Man (OMIM) catalog, hosted by the NCBI website. In OMIM you can find a wealth of information on human traits that are inherited in a Mendelian fashion, from the symptoms of a genetic disorder and how to diagnose it, to details in the molecular genetics and published papers on the trait or disease.

Then we introduced the several modes of inheritance of human Mendelian traits.

• Autosomal - dominant and recessive
• X-linked - dominant and recessive
• Y-linked
• Mitochondrial

We described the characteristics of the autosomal and X-linked dominant modes of inheritance.

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LectureChapter 3 - Mendelian geneticsChapter 4 - Pedigree analysis

Yesterday we finished chapter 3, on Mendelian genetics.

We discussed more complex phenotypes that made Mendel's principles harder to study in many organisms, and how they do not conflict with them when considering the genotypes. Such phenotypic variations to Mendel's theme are:

• Incomplete dominance
• Codominance
• Multiple alleles
• Gene interactions (mainly epistasis)

We also started chapter 4, on pedigree analysis.

We briefly revisited the reasons for which human genetics cannot be studied experimentally and introduced the modes of inheritance of human Mendelian traits.

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Lecture, chapter 3 - Mendelian Genetics

Mendel, in his garden
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Today we talked about the classic experiments with which Mendel kick-started the field of genetics. We discussed the monohybrid and dihybrid crosses that lead Mendel to propose his principles:

• Principle of segregation
• Principle of independent assortment

We then discussed human traits in which Mendel's principles can be observed. On Monday we will talk about apparent deviations from Mendel's principles.

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Lab 01 - Human Mendelian genetics

During this first lab students learned the basics of building pedigrees to study human genetics.

Pedigrees were built for the following traits

• Free or attached ear lone
• Hitchhiker's thumb
• Tongue rolling
• Hand folding

The latter two are behavioral traits with a genetic component but they seem to be inherited in a Mendelian fashion; they were suitable for this basic exercise.

Then students did simulations of gametogenesis and offspring production to illustrate topics that will be soon studied in lecture: Mendel's principles.

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Bioethics projects - Topics selection

Today students formed groups and chose topics for the bioethics papers and panel discussions (genetics-related topics that generate social, moral, or political controversy). The groups and chosen topics are the following:

1. Human cloning - Becca, Kelly, Kandai
2. Genetically modified organisms (GMOs) - John, Josh, Mohammed
3. Genetic screening for psychiatric disorders - Cara, Chelsey, Scott
4. Prenatal genetic diagnosis (PGD) - Amanda, Sarah, Brittany
5. Embryonic stem cell research - Amy, Nicole, Saleh
6. Designer babies - Chelsie, Daisy, Johnny

Panel discussions will take place during the lab session of week 9. Papers are due the same day.

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Lecture, chapter 1 - A human perspective on genetics

Today we finished chapter 1.

We discussed the impact that genetics has had in society, since the 19th century when Francis Galton started a eugenics movement, to the more positive impact it has today through biotechnology.

Tomorrow:

We will do lab 1, Family pedigree analysis. Please remember to find out what are your and your relatives' phenotypes for the following traits:

• Tonge rolling - Roller vs. non-roller
• Ear lobe - Free vs. attached
• Thumb - Hitchhiker's vs. straight thumb
• Hand folding - Left thumb over right vs. right over left

The lab guide will be available on the p-drive and the WebCT site and will be e-mailed to you as well.

Remember you must form groups of three people to develop the bioethics projects. You must propose genetics-related topics that are controversial. Topics will b assigned before starting lab 1.

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Lecture, chapter 1 - A human perspective on genetics

Today we had an introduction to the class. We talked about the organization of the course, expectations and how it's going to be graded, and started chapter 1 in the book.

Chapter 1 in the textbook, Genetics as a human endeavor, is an introduction to the course, and a dissertation on the importance of genetics for every day's life. We discussed, at a basic level, topics from the definition of genetics to the different approaches to study genetics.

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Lecture, chapter 14 - Biotechnology

Today we covered most of chapter 14 in Biotechnology.

We discussed some of the services offered within the context of biotechnology, such as genetic testing and screening, and DNA profiling, mainly using short tandem repeats (STRs) or microsatellites.

On Friday we will discuss genetic testing via DNA microarrays, and we will have a brief discussion on population genetics.

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Lab 10 - Population genetics II - Evolution

Today on lab 10, we performed a series of computer simulations to understand the effect of natural selection and genetic drift on the evolution of populations.

We used Jon C. Herron's AlleleA1 and EvoDots. AlleleA1 allowed us to simulate changes in allele frequency under specific conditions, since we were able to control variables such as population size, initial allele frequency, and fitness (we didn't change other variables that could be controlled as well). EvoDots allowed us to simulate the effects of predation on a population of dots which vary in certain traits (speed, size, and color). In this case the user is the predator.

The effects of natural selection and genetic drift under various conditions was considered.

Other activities:

• We had the last bioethics discussion panel (privacy of genetic information)
• We had our second lab quiz

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Lecture, chapter 14 - Biotechnology

Today we started covering chapter 14, on Biotechnology

Biotechnology is the use of recombinant DNA technology to produce commodities or offer services.

We discussed some of the uses of biotechnology in today's society, such as biopharming (obtaining pharmaceutical products by using bacteria, animals, and plants), and Genetically Modified Organisms (GMOs).

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Lecture, chapter 13 - Cloning and recombinant DNA technology

Today we continued with chapter 13.

We discussed the process to make genomic DNA libraries and how to screen them for DNA fragments of interest, and we introduced the basics of PCR. We talked about the reagents that are required for the reactions and the basic steps in a cycle.

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"Lab" 9 - Bioethics discussion panels

Tuesday, May 4, 2010

Today we had our bioethics presentations and discussion panels. Students did a presentation highlighting the scientific background and ethical issues of selected genetics-related topics:

• Genetically Modified Organisms (GMOs) - Aubrey, Liz, Nathan, and Dexter
• Human-animal chimeras - Beth, Sarah, Stacy, Aimee, and Emily
• Stem cell research - Sonia, Katie D., Dustin, and Geoff
• Designer babies - Niki, Andrea, Jessica, and Katie K.
• Cloning of human beings - Jamal, Jerel, Shawn, and Scott

Next week:

• Privacy of genetic information - Rachel, Amy, Anessa, and Jake

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