NSG 533 Advanced Pharmacology 2027 Exam 2 Complete Exam
Questions and Verified Correct Answers with Rationales - Already
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Question 1.
genetics .
Answer: study of inherited traits and their variation (individual)
Question 2.
genome .
Answer: total genetic composition of an organism or species (group)
Question 3.
genomics .
Answer: molecular analysis of the entire genome of a species
Question 4.
gene .
Answer: basic unit of heredity
Question 5.
list the four types of mendelian inheritance .
Answer: 1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
Question 6.
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
Question 7.
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
Question 8.
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)
Question 9.
types of X-linked recessive disorders .
Answer: 1. duchene muscular dystrophy
2. hemophilia
3. color blindness
Question 10.
examples of X-Linked dominant disorders .
Answer: 1. Fragile X syndrome
2. Rett syndrome
Question 11.
examples of Autosomal Dominant disorders .
Answer: -Marfan syndrome -Huntington disease
Question 12.
examples of Autosomal Recessive disorders .
Answer: - cystic fibrosis - sickle cell anemia - PKU - Tay-Sachs
Question 13.
types of genetic inheritance .
Answer: 1. mendelian inheritance
2. non-mendelian inheritance
, Question 14.
types of non-mendelian inheritance .
Answer: 1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
Question 15.
mitochondrial inheritance .
Answer: only females will transmit disease to their offspring
- the ova contains mitochondria, sperm does not
Question 16.
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
Question 17.
examples of genomic imprinting .
Answer: 1. Prader-Willi Syndrome (paternal inheritance of deletion)
2. angelman syndrome (maternal inheritance of deletion)
Question 18.
uniparental disomy .
Answer: Offspring receives 2 copies of a chromosome from 1 parent and no
copies from the other parent.
Question 19.
types of chromosomal mutations (5) .
Answer: 1. deletion
2. duplication
3. inversion
4. substitution
5. translocation
Question 20.
deletion .
Answer: type of chromosomal mutation in which there is an absence of a
segment of DNA (single base or entire gene)
Questions and Verified Correct Answers with Rationales - Already
Graded A+ - Ultimate Exam Prep Pack
Question 1.
genetics .
Answer: study of inherited traits and their variation (individual)
Question 2.
genome .
Answer: total genetic composition of an organism or species (group)
Question 3.
genomics .
Answer: molecular analysis of the entire genome of a species
Question 4.
gene .
Answer: basic unit of heredity
Question 5.
list the four types of mendelian inheritance .
Answer: 1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
Question 6.
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
Question 7.
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
Question 8.
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)
Question 9.
types of X-linked recessive disorders .
Answer: 1. duchene muscular dystrophy
2. hemophilia
3. color blindness
Question 10.
examples of X-Linked dominant disorders .
Answer: 1. Fragile X syndrome
2. Rett syndrome
Question 11.
examples of Autosomal Dominant disorders .
Answer: -Marfan syndrome -Huntington disease
Question 12.
examples of Autosomal Recessive disorders .
Answer: - cystic fibrosis - sickle cell anemia - PKU - Tay-Sachs
Question 13.
types of genetic inheritance .
Answer: 1. mendelian inheritance
2. non-mendelian inheritance
, Question 14.
types of non-mendelian inheritance .
Answer: 1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
Question 15.
mitochondrial inheritance .
Answer: only females will transmit disease to their offspring
- the ova contains mitochondria, sperm does not
Question 16.
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
Question 17.
examples of genomic imprinting .
Answer: 1. Prader-Willi Syndrome (paternal inheritance of deletion)
2. angelman syndrome (maternal inheritance of deletion)
Question 18.
uniparental disomy .
Answer: Offspring receives 2 copies of a chromosome from 1 parent and no
copies from the other parent.
Question 19.
types of chromosomal mutations (5) .
Answer: 1. deletion
2. duplication
3. inversion
4. substitution
5. translocation
Question 20.
deletion .
Answer: type of chromosomal mutation in which there is an absence of a
segment of DNA (single base or entire gene)
