NSG 533 (NSG533) EXAM 2 | ADVANCED
PHARMACOLOGY EXAM 2 | LATEST 2024
genetics - (ANSWER)study of inherited traits and their variation (individual)
genome - (ANSWER)total genetic composition of an organism or species (group)
genomics - (ANSWER)molecular analysis of the entire genome of a species
gene - (ANSWER)basic unit of heredity
list the four types of mendelian inheritance - (ANSWER)1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
autosomal dominant - (ANSWER)- 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 - (ANSWER)- 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 - (ANSWER)- 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 - (ANSWER)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 - (ANSWER)1. duchene muscular dystrophy
2. hemophilia
3. color blindness
examples of X-Linked dominant disorders - (ANSWER)1. Fragile X syndrome
2. Rett syndrome
examples of Autosomal Dominant disorders - (ANSWER)-Marfan syndrome
-Huntington disease
examples of Autosomal Recessive disorders - (ANSWER)- cystic fibrosis
- sickle cell anemia
- PKU
- Tay-Sachs
types of genetic inheritance - (ANSWER)1. mendelian inheritance
2. non-mendelian inheritance
, types of non-mendelian inheritance - (ANSWER)1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
mitochondrial inheritance - (ANSWER)only females will transmit disease to their offspring
- the ova contains mitochondria, sperm does not
genomic imprinting - (ANSWER)- gene from mother or father may be imprinted (silenced)
- if allele from mother is imprinted, only allele from father will be expressed
examples of genomic imprinting - (ANSWER)1. Prader-Willi Syndrome (paternal inheritance of
deletion)
2. angelman syndrome (maternal inheritance of deletion)
uniparental disomy - (ANSWER)Offspring receives 2 copies of a chromosome from 1 parent and
no copies from the other parent.
types of chromosomal mutations (5) - (ANSWER)1. deletion
2. duplication
3. inversion
4. substitution
5. translocation
deletion - (ANSWER)type of chromosomal mutation in which there is an absence of a segment
of DNA (single base or entire gene)
PHARMACOLOGY EXAM 2 | LATEST 2024
genetics - (ANSWER)study of inherited traits and their variation (individual)
genome - (ANSWER)total genetic composition of an organism or species (group)
genomics - (ANSWER)molecular analysis of the entire genome of a species
gene - (ANSWER)basic unit of heredity
list the four types of mendelian inheritance - (ANSWER)1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
autosomal dominant - (ANSWER)- 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 - (ANSWER)- 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 - (ANSWER)- 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 - (ANSWER)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 - (ANSWER)1. duchene muscular dystrophy
2. hemophilia
3. color blindness
examples of X-Linked dominant disorders - (ANSWER)1. Fragile X syndrome
2. Rett syndrome
examples of Autosomal Dominant disorders - (ANSWER)-Marfan syndrome
-Huntington disease
examples of Autosomal Recessive disorders - (ANSWER)- cystic fibrosis
- sickle cell anemia
- PKU
- Tay-Sachs
types of genetic inheritance - (ANSWER)1. mendelian inheritance
2. non-mendelian inheritance
, types of non-mendelian inheritance - (ANSWER)1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
mitochondrial inheritance - (ANSWER)only females will transmit disease to their offspring
- the ova contains mitochondria, sperm does not
genomic imprinting - (ANSWER)- gene from mother or father may be imprinted (silenced)
- if allele from mother is imprinted, only allele from father will be expressed
examples of genomic imprinting - (ANSWER)1. Prader-Willi Syndrome (paternal inheritance of
deletion)
2. angelman syndrome (maternal inheritance of deletion)
uniparental disomy - (ANSWER)Offspring receives 2 copies of a chromosome from 1 parent and
no copies from the other parent.
types of chromosomal mutations (5) - (ANSWER)1. deletion
2. duplication
3. inversion
4. substitution
5. translocation
deletion - (ANSWER)type of chromosomal mutation in which there is an absence of a segment
of DNA (single base or entire gene)
