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Solutions | Advanced Pharmacology Final
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• genetics -✓✓study of inherited traits and their variation (individual)
• genome -✓✓total genetic composition of an organism or species (group)
• genomics -✓✓molecular analysis of the entire genome of a species
• gene -✓✓basic unit of heredity
• list the four types of mendelian inheritance -✓✓1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
• 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
• 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
• 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
• X-Linked Recessive -✓✓mutation on gene in X chromosome causes phenotype
to be expressed in hemizygous males (XaY) and homozygous females (XaXa)
• types of X-linked recessive disorders -✓✓1. duchene muscular dystrophy
2. hemophilia
3. color blindness
• examples of X-Linked dominant disorders -✓✓1. Fragile X syndrome
2. Rett syndrome
• examples of Autosomal Dominant disorders -✓✓-Marfan syndrome
-Huntington disease
• examples of Autosomal Recessive disorders -✓✓- cystic fibrosis
- sickle cell anemia
- PKU
- Tay-Sachs
• types of genetic inheritance -✓✓1. mendelian inheritance
2. non-mendelian inheritance
• types of non-mendelian inheritance -✓✓1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
• mitochondrial inheritance -✓✓only females will transmit disease to their
offspring
- the ova contains mitochondria, sperm does not
• genomic imprinting -✓✓- gene from mother or father may be imprinted
(silenced)