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Pathopharm Genetics

Genetics for pathopharm

Where does mitochondrial DNA come from? Mom
Formation of 2 daughter nuclei containing the identical complements of the number of chromosomes Mitosis
Replication of germ cells Meiosis
Your genetic make up genotype
What you look like Phenotype
Homozygous alleles are identical
Heterozygous one allele is dominant
Inactivated X Barr body
Marfan Syndrome heart and connective tissue problems thin + tall + protruding chest
von Willebrand disease deficiency of defect of a blood clotting protein
PKU Phenylketonuria (autosomal recessive gene) Increased level of phenylalanine leads to brain damage Strict diet
Tach-Sachs Disease autosomal recessive extra fat in the brain
Cystic fibrosis most common fatal autosomal recessive essential amino acid is lacking; things that should work don't thick secretions plug up ducts and pores
Hemophilia spontaneous bleeding painful joints + swelling shock like symptoms
Multifactorial genes + environment
Trisomy 21 Downs