NUR 502 Study Guide: Review Topics for Chapter 1 & 2|Latest
Update with Complete Solution-STU
-What is Fragile X syndrome and what is its cause?
Fragile X Syndrome: A single-gene disorder with chromosomal duplication abnormalities. Most
are hereditary.
• X-linked dominant disorder associated with FMR1 on X chromosome
• Males as carriers
• Intellectual, behavioral and learning disabilities
-What is neurofibromatosis?
Neurofibromatosis: A condition involving neurogenic tumors that arise from Schwann cells (a
type of neuroglial cells that keep peripheral nerve fibers alive through functions such as forming
and maintaining the myelin sheath in motor and sensory axons) and other similar cells. Most
cases of fibromatosis are inherited, 30-50% occur spontaneously. There are 3 types:
1. Type 1 neurofibromatosis (Von Recklinghausen disease): most common of the three.
Results from mutations in the NF1 gene on chromosome 17.
2. Type 2 neurofibromatosis: Results from mutations in the NF2 gene on chromosome 22
3. Schwannomatosis: Causes multiple benign tumors along the nerve sheaths with no skin
or vestibular involvement.
-Know autosomal dominant disease trait/X-linked recessive trait
Autosomal dominant disease trait is a condition passed down from parent to child.
X- linked recessive inheritance refers to genetic conditions associated with mutations in genes on
the X chromosome.
-What are Dominant, Recessive, Sex-linked and Hemizygous genes
• A dominant allele produces a dominant phenotype in individuals who have one copy of
the allele, which can come from just one parent
• For a recessive allele to produce a recessive phenotype, the individual must have two
copies, one from each parent
• Sex-linked genes refer to characteristics or traits that are influenced by genes carries on
the sex chromosomes
• Hemizygous describes an individual who has only one member of a chromosome pair or
chromosome segment rather than the usual two.
-What are the characteristics of a metastatic tumor
The third phase of carcinogenesis is the progression, which is when the tumor invades,
metastasizes and becomes drug resistant
• Not all tumors can metastasize (depends on the tumors ability to access and survive in the
circulatory or the lymphatic system)
• More commonly, tumors metastasize to nearby sites but can travel
• The tumor at the site of metastasis has the same cells as the primary site
-Know mutation of the breast carcinoma 1 and 2 (BRCA1 and BRCA2) gene
Breast carcinoma 1 and 2 are two well-known tumor suppressor genes that when mutated are
associated with breast, ovarian and other cancers.
, • BRCA1 mutations can cause breast cancer in 80% of women and ovarian cancer in 33%
• Breast CA due to BRCA1 are almost always negative for receptors to estrogen (ER),
progesterone and human epidermal receptor 2 (HER2)- termed triple negative cancers
(very aggressive)
• BRCA2 are associated with hormone-receptor positive breast cancers
-What is the importance of Vitamin supplements and antioxidants
Antioxidant is a general term for molecules that can protect against oxidation, which is how free
radicals/ROS can develop. Many are marked as preventing and or fighting disease and
preventing aging, can be found in food or supplements. There are over 100 antioxidants (Ex vit
A, C, E and beta carotene), can cause disease in excess.
-RAS proto-oncogene mutation affects cells by.
Cells grow uncontrollably and evade death signals.
-Why are stem cells transplant for leukemia categorized as multipotent?
Multipotent stem cells are adult stem cells that demonstrate the ability to self-renew or to
differentiate into specialized cell types present in a specific tissue or organ. (multipotent stem
cells are found in bone marrow)
-What is the indication for biopsy of a breast mass?
Dependent on ultrasound findings and breast cancer risk.
-Education for family of children with PKU
PKU: A deficiency of phenylalanine hydroxylase, the enzyme necessary for the conversion of
phenylalanine to tyrosine, due to the mutation in the PAH gene on chromosome 12. Toxic levels
of phenylalanine in the blood causes nervous system damage and if untreated, leads to severe
intellectual disability.
• Treatment involves consumption of a diet low in phenylalanine
• Can be breastfed, but quantity of breast milk must be monitored (special infant formulas
are available)
• Avoid proteins and aspartame as well as minimize starches
• Oral medications available (ex sapropterin [Kuvan])
-DNA that is transmitted from parents to offspring mainly comes from?
Organisms inherit half of their nuclear DNA from the male parent and half from the female
parent. However, organisms inherit all of their mitochondrial DNA from the female parent.
- What are the “checkpoints” where damaged DNA is fixed?
The G2 checkpoint insures that all of the chromosomes have been replicated and that the
replicated DNA is not damaged. If the checkpoint detects problems with the DNA, the cell cycle
is halted and the cell attempts to either complete DNA replication or repair the damaged DNA.
-Dysplasia of epithelial cells sometimes results from?
Chronis irritation or inflammation
Update with Complete Solution-STU
-What is Fragile X syndrome and what is its cause?
Fragile X Syndrome: A single-gene disorder with chromosomal duplication abnormalities. Most
are hereditary.
• X-linked dominant disorder associated with FMR1 on X chromosome
• Males as carriers
• Intellectual, behavioral and learning disabilities
-What is neurofibromatosis?
Neurofibromatosis: A condition involving neurogenic tumors that arise from Schwann cells (a
type of neuroglial cells that keep peripheral nerve fibers alive through functions such as forming
and maintaining the myelin sheath in motor and sensory axons) and other similar cells. Most
cases of fibromatosis are inherited, 30-50% occur spontaneously. There are 3 types:
1. Type 1 neurofibromatosis (Von Recklinghausen disease): most common of the three.
Results from mutations in the NF1 gene on chromosome 17.
2. Type 2 neurofibromatosis: Results from mutations in the NF2 gene on chromosome 22
3. Schwannomatosis: Causes multiple benign tumors along the nerve sheaths with no skin
or vestibular involvement.
-Know autosomal dominant disease trait/X-linked recessive trait
Autosomal dominant disease trait is a condition passed down from parent to child.
X- linked recessive inheritance refers to genetic conditions associated with mutations in genes on
the X chromosome.
-What are Dominant, Recessive, Sex-linked and Hemizygous genes
• A dominant allele produces a dominant phenotype in individuals who have one copy of
the allele, which can come from just one parent
• For a recessive allele to produce a recessive phenotype, the individual must have two
copies, one from each parent
• Sex-linked genes refer to characteristics or traits that are influenced by genes carries on
the sex chromosomes
• Hemizygous describes an individual who has only one member of a chromosome pair or
chromosome segment rather than the usual two.
-What are the characteristics of a metastatic tumor
The third phase of carcinogenesis is the progression, which is when the tumor invades,
metastasizes and becomes drug resistant
• Not all tumors can metastasize (depends on the tumors ability to access and survive in the
circulatory or the lymphatic system)
• More commonly, tumors metastasize to nearby sites but can travel
• The tumor at the site of metastasis has the same cells as the primary site
-Know mutation of the breast carcinoma 1 and 2 (BRCA1 and BRCA2) gene
Breast carcinoma 1 and 2 are two well-known tumor suppressor genes that when mutated are
associated with breast, ovarian and other cancers.
, • BRCA1 mutations can cause breast cancer in 80% of women and ovarian cancer in 33%
• Breast CA due to BRCA1 are almost always negative for receptors to estrogen (ER),
progesterone and human epidermal receptor 2 (HER2)- termed triple negative cancers
(very aggressive)
• BRCA2 are associated with hormone-receptor positive breast cancers
-What is the importance of Vitamin supplements and antioxidants
Antioxidant is a general term for molecules that can protect against oxidation, which is how free
radicals/ROS can develop. Many are marked as preventing and or fighting disease and
preventing aging, can be found in food or supplements. There are over 100 antioxidants (Ex vit
A, C, E and beta carotene), can cause disease in excess.
-RAS proto-oncogene mutation affects cells by.
Cells grow uncontrollably and evade death signals.
-Why are stem cells transplant for leukemia categorized as multipotent?
Multipotent stem cells are adult stem cells that demonstrate the ability to self-renew or to
differentiate into specialized cell types present in a specific tissue or organ. (multipotent stem
cells are found in bone marrow)
-What is the indication for biopsy of a breast mass?
Dependent on ultrasound findings and breast cancer risk.
-Education for family of children with PKU
PKU: A deficiency of phenylalanine hydroxylase, the enzyme necessary for the conversion of
phenylalanine to tyrosine, due to the mutation in the PAH gene on chromosome 12. Toxic levels
of phenylalanine in the blood causes nervous system damage and if untreated, leads to severe
intellectual disability.
• Treatment involves consumption of a diet low in phenylalanine
• Can be breastfed, but quantity of breast milk must be monitored (special infant formulas
are available)
• Avoid proteins and aspartame as well as minimize starches
• Oral medications available (ex sapropterin [Kuvan])
-DNA that is transmitted from parents to offspring mainly comes from?
Organisms inherit half of their nuclear DNA from the male parent and half from the female
parent. However, organisms inherit all of their mitochondrial DNA from the female parent.
- What are the “checkpoints” where damaged DNA is fixed?
The G2 checkpoint insures that all of the chromosomes have been replicated and that the
replicated DNA is not damaged. If the checkpoint detects problems with the DNA, the cell cycle
is halted and the cell attempts to either complete DNA replication or repair the damaged DNA.
-Dysplasia of epithelial cells sometimes results from?
Chronis irritation or inflammation
