ADVANCED PHARMACOLOGY NSG 533 END OF COURSE
EXAM QUESTIONS AND ANSWERS RATED A+
✔✔types of chromosomal mutations (5) - ✔✔1. deletion
2. duplication
3. inversion
4. substitution
5. translocation
✔✔deletion - ✔✔type of chromosomal mutation in which there is an absence of a
segment of DNA (single base or entire gene)
✔✔duplication - ✔✔type of chromosomal mutation in which there is a presence of an
extra segment of DNA (redundant copies)
✔✔inversion - ✔✔type of chromosomal mutation in which a segment of chromosome is
inverted and reinserted in the chromosome at the breakage site
✔✔balanced inversion - ✔✔no net loss/gain of genetic chromosomal material (no
phenotypic abnormalities)
✔✔unbalanced inversion - ✔✔loss/gain of chromosomal material (will see abnormal
phenotype)
✔✔substitution - ✔✔type of chromosomal mutation in which there is an exchange of
one base for another
✔✔translocation - ✔✔type of chromosomal mutation in which a segment or whole
chromosome becomes attached with another chromosome
✔✔balanced translocation - ✔✔no net gain/loss of genetic material (no phenotypic
abnormalities)
✔✔unbalanced translocation - ✔✔gain/loss of genetic material (does show phenotypic
abnormality)
✔✔penetrance - ✔✔proportion of individuals with a mutation who actually exhibit the
clinical symptoms (often autosomal dominant)
✔✔anticipation - ✔✔tendency for individuals with certain genetic disorders in
successive generations to present at an earlier age and/or with more severe
manifestations
severity and age of onset
, ✔✔consanguinity - ✔✔genetic relatedness between individuals descended from at least
one common ancestor
✔✔mosacisism - ✔✔occurrence of two or more cell lines with different genetic or
chromosomal constitutions within a single individual
✔✔types of mosaicism - ✔✔1. germline
2. somatic
✔✔which type of mosaicism can be transmitted to the offspring? - ✔✔germline
✔✔genotype - ✔✔individual's genetic makeup
✔✔phenotype - ✔✔the observable physical characteristics of a gene
✔✔gene associated with Tay-Sachs - ✔✔HEXA gene
✔✔gene associated with Cystic Fibrosis - ✔✔CFTR gene
✔✔gene associated with Sickle Cell Anemia - ✔✔HBB gene
✔✔gene associated with Duchene Muscular Dystrophy - ✔✔DMD gene
✔✔gene associated with Hereditary Hemochromatosis - ✔✔HFE gene
✔✔genes associated with cancer - ✔✔BRCA 1
BRCA 2
✔✔benefits of CRISPR - ✔✔human enhancement, reversing congenital diseases
✔✔risks of CRISPR - ✔✔moral/ethical issues, decreased adaptability, global pause on
human embryo enhancement
✔✔epigenetics - ✔✔the study of influences on gene expression
✔✔heterozygote advantage - ✔✔having the characteristic of one disease may help with
another disease
✔✔two examples of heterozygote advantage - ✔✔1. sickle cell disease and malaria
(those with sickle cell are less likely to become sick with malaria)
2. TB and Tay-Sachs disease (those with TB are less likely to get sick with Tay-Sachs)
EXAM QUESTIONS AND ANSWERS RATED A+
✔✔types of chromosomal mutations (5) - ✔✔1. deletion
2. duplication
3. inversion
4. substitution
5. translocation
✔✔deletion - ✔✔type of chromosomal mutation in which there is an absence of a
segment of DNA (single base or entire gene)
✔✔duplication - ✔✔type of chromosomal mutation in which there is a presence of an
extra segment of DNA (redundant copies)
✔✔inversion - ✔✔type of chromosomal mutation in which a segment of chromosome is
inverted and reinserted in the chromosome at the breakage site
✔✔balanced inversion - ✔✔no net loss/gain of genetic chromosomal material (no
phenotypic abnormalities)
✔✔unbalanced inversion - ✔✔loss/gain of chromosomal material (will see abnormal
phenotype)
✔✔substitution - ✔✔type of chromosomal mutation in which there is an exchange of
one base for another
✔✔translocation - ✔✔type of chromosomal mutation in which a segment or whole
chromosome becomes attached with another chromosome
✔✔balanced translocation - ✔✔no net gain/loss of genetic material (no phenotypic
abnormalities)
✔✔unbalanced translocation - ✔✔gain/loss of genetic material (does show phenotypic
abnormality)
✔✔penetrance - ✔✔proportion of individuals with a mutation who actually exhibit the
clinical symptoms (often autosomal dominant)
✔✔anticipation - ✔✔tendency for individuals with certain genetic disorders in
successive generations to present at an earlier age and/or with more severe
manifestations
severity and age of onset
, ✔✔consanguinity - ✔✔genetic relatedness between individuals descended from at least
one common ancestor
✔✔mosacisism - ✔✔occurrence of two or more cell lines with different genetic or
chromosomal constitutions within a single individual
✔✔types of mosaicism - ✔✔1. germline
2. somatic
✔✔which type of mosaicism can be transmitted to the offspring? - ✔✔germline
✔✔genotype - ✔✔individual's genetic makeup
✔✔phenotype - ✔✔the observable physical characteristics of a gene
✔✔gene associated with Tay-Sachs - ✔✔HEXA gene
✔✔gene associated with Cystic Fibrosis - ✔✔CFTR gene
✔✔gene associated with Sickle Cell Anemia - ✔✔HBB gene
✔✔gene associated with Duchene Muscular Dystrophy - ✔✔DMD gene
✔✔gene associated with Hereditary Hemochromatosis - ✔✔HFE gene
✔✔genes associated with cancer - ✔✔BRCA 1
BRCA 2
✔✔benefits of CRISPR - ✔✔human enhancement, reversing congenital diseases
✔✔risks of CRISPR - ✔✔moral/ethical issues, decreased adaptability, global pause on
human embryo enhancement
✔✔epigenetics - ✔✔the study of influences on gene expression
✔✔heterozygote advantage - ✔✔having the characteristic of one disease may help with
another disease
✔✔two examples of heterozygote advantage - ✔✔1. sickle cell disease and malaria
(those with sickle cell are less likely to become sick with malaria)
2. TB and Tay-Sachs disease (those with TB are less likely to get sick with Tay-Sachs)
