EXAM 2 STUDY GUIDE
Advanced Pharmacology - Wilkes
THIS GUIDE CONTAINS:
NSG 533 Exam 2 Study Guide
key Terms and Definitions
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,1. genetics:
study of inherited traits and their variation (individual)
2. genome:
total genetic composition of an organism or species (group)
3. genomics:
molecular analysis of the entire genome of a species
4. gene:
basic unit of heredity
5. list the four types of mendelian inheritance:
1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
6. autosomal dominant:
- phenotype is expressed in those who have 1 copy of a gene mutation
- mothers and fathers are equally likely to transmit or inherit the disorder
- seen in multiple generations
, 7. autosomal recessive:
- requires presence of 2 copies of a gene mutation in order to express phenotype
- usually seen in a single generation
- mothers/fathers equally likely to transmit or inherit disorder
8. X-linked dominant:
- dominant disorder caused by a mutation in a gene on the X chromosome
- heterozygous female (XAXa) and hemizygous male (XAY)
- affected males have more severe phenotype
9. X-Linked Recessive:
mutation on gene in X chromosome causes phenotype to be expressed in
hemizygous males (XaY) and homozygous females (XaXa)
10. types of X-linked recessive disorders:
1. duchene muscular dystrophy
2. hemophilia
3. color blindness