NURS 6233 Midterm Exam Latest (2025/2026) 100
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1. Question:
Types of Genetic Disorders ?
Answer:
- Single Gene
- Chromosomal
- Mitochondrial
- Multi-factorial
2. Question:
Examples of Single Gene Disorders ?
Answer:
- Cystic Fibrosis
- Sickle Cell Disease
- Hemophilia
3. Question:
Examples of Chromosomal Disorders ?
Answer:
Aneuploidy
- Abnormal chromosome number (too many/few)
- MOST common abnormality
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Down Syndrome
- AKA Trisomy 21
- Extra copy of chromosome 21 (3 of them)
Turner Syndrome
4. Question:
Examples of Mitochondrial Disorders ?
Answer:
- Maternal inheritance
- Involved in energy metabolism
- Mitochondrial DNA
- RARE
- Ova = rich in mitochondria
5. Question:
Examples of Multi-Factorial Disease ?
Answer:
Combination of environment + genes
Congenital Malformations
- Spina bifida
- Cancer
- Atherosclerosis
- Mental illness
- Cleft lip or cleft palate
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- Heart disease
- Diabetes
6. Question:
Gene ?
Answer:
Unit of genetic information
7. Question:
Locus ?
Answer:
Precise position of each gene along a chromosome
8. Question:
Allele ?
Answer:
- Alternative forms of a gene
- Found at same locus on homologous chromosome
9. Question:
Genotype ?
Answer:
Genetic constitution of an individual
10. Question:
Phenotype ?
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Answer:
- Physical, biochemical, physiological appearance
- Result of interaction btw environment + genotype
11. Question:
Mutation ?
Answer:
- Permanent change in nucleotide sequence
- Single gene or structure/number of chromosomes
- Gamete mutation = inherited
- Autosomal/somatic mutation = NOT inherited
12. Question:
Cytogenetics ?
Answer:
- Branch of genetics
- Study of chromosomes
13. Question:
BRCA1 and BRCA2 ?
Answer:
- Autosomal dominant hereditary breast cancer
- Mutation of tumor suppressor genes
- May be inherited in germ line
- Increased cancer risk