Who is Mendel and what organism did he work with? What did he do?
• What is the difference between a genotype and phenotype?
• What are the characteristics of these inheritance modes: autosomal recessive trait? Autosomal dominant? X-linked recessive?
• What is an allele?
• For Sickle cell anemia, Huntington disease, and for Red-green colorblindness: how many copies of the disease allele are needed to give the phenotype? In other words, which genotype will give the disease phenotype? • In which of the above disorders (and in which inheritance mode) is there a much higher chance of having the disease phenotype in males than in females? Why? • What is a carrier? Which kinds of inheritance modes can have carriers? Give the genotype and the phenotype of a carrier (in terms of which alleles – the disease or the “normal” allele” – are present). • Know the basic symbols for pedigrees, and be able to tell parents from children, spouses, male/female; affected & unaffected (phenotype). • Be able to figure out the likely inheritance mode of a trait from its pedigree (study examples & reasoning in your text). • What is a Karyotype? Be able to tell the difference between one that looks normal and one that shows monosomy or trisomy, and to know which chromosome is affected. Be able to tell the sex (chromosomal) from seeing a karyotype. Which kind of mistake during meiosis or mitosis most often causes abnormal chromosome numbers?
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