Today we discussed the several cases of autosomal and sex chromosome aneuploidies: Their frequency, symptoms, and consequences for an individual's life. Polyploidies and aneuploidies are cases of alterations in chromosome number.
We also introduced the concept of chromosomal structural alterations. We mentioned the various categories (deletions, duplications, inversions and translocations) and started discussing them.
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Wednesday, March 30, 2011
Tuesday, March 29, 2011
Lab 04 - Inheritance of complex traits
Today we practiced pedigree analysis when a trait is controlled by one or 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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Monday, March 28, 2011
Lecture, chapter 6 - Cytogenetics
A human karyotype
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Following with the chapter on cytogenetics we discussed the nomenclature of chromosomes, how to produce a human karyotype, including the different chromosome banding and painting techniques, and methods to obtain cells from fetuses and adults to produce a karyotype.
We introduced the topic of variations in chromosome number, including polyploidy and aneuploidy; we discussed the most common causes for each abnormality.
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