NURS 6233 Midterm Examination And
Already Passed Answers 2025-2026
Edition.
Types of Genetic Disorders - Answer - Single Gene
- Chromosomal
- Mitochondrial
- Multi-factorial
Examples of Single Gene Disorders - Answer - Cystic Fibrosis
- Sickle Cell Disease
- Hemophilia
Examples of Chromosomal Disorders - Answer Aneuploidy
- Abnormal chromosome number (too many/few)
- MOST common abnormality
Down Syndrome
- AKA Trisomy 21
- Extra copy of chromosome 21 (3 of them)
Turner Syndrome
Examples of Mitochondrial Disorders - Answer - Maternal inheritance
- Involved in energy metabolism
- Mitochondrial DNA
- RARE
- Ova = rich in mitochondria
Examples of Multi-Factorial Disease - Answer Combination of environment + genes
Congenital Malformations
,- Mental illness
- Cleft lip or cleft palate
- Heart disease
- Diabetes
Gene - Answer Unit of genetic information
Locus - Answer Precise position of each gene along a chromosome
Allele - Answer - Alternative forms of a gene
- Found at same locus on homologous chromosome
Genotype - Answer Genetic constitution of an individual
Phenotype - Answer - Physical, biochemical, physiological appearance
- Result of interaction btw environment + genotype
Mutation - Answer - Permanent change in nucleotide sequence
- Single gene or structure/number of chromosomes
- Gamete mutation = inherited
- Autosomal/somatic mutation = NOT inherited
Cytogenetics - Answer - Branch of genetics
- Study of chromosomes
BRCA1 and BRCA2 - Answer - Autosomal dominant hereditary breast cancer
- Mutation of tumor suppressor genes
- May be inherited in germ line
- Increased cancer risk
Thiopurine S-Methyltransferase Deficiency (TPMP) Polymorphism - Answer - Help pediatric
, - Strong family history
- Make appropriate long term financial plans
- Cerebral neuronal dysfunction & death
Chronic Myelogenous Leukemia - Answer - BCR-ABL 1 Oncogene
- Can sequence cancer cell DNA
- Identify specific changes in oncogenic signaling pathways
- Inappropriately activated by somatic mutation
- Lead to development of specific inhibitors
- Induce cancer remission in patients
Medical Genetics - Answer - Applying genetics to medical practice
- Disease inheritance in families
- Mapping disease genes to specific chromosome locations
- Analyze molecular mechanisms how genes cause disease
- Diagnose & treat genetic disease
- Genetic counseling
Gene Therapy - Answer Insert normal gene into patients to correct genetic disease
Gregor Mendel - Answer - Father of Genetics
- Monk who studied garden peas
Charles Darwin - Answer - Theory of Evolution
- Natural Selection
- Survival of the fittest
Francis Galton - Answer Family studies (twins)
Landsteiner - Answer ABO blood group types
Already Passed Answers 2025-2026
Edition.
Types of Genetic Disorders - Answer - Single Gene
- Chromosomal
- Mitochondrial
- Multi-factorial
Examples of Single Gene Disorders - Answer - Cystic Fibrosis
- Sickle Cell Disease
- Hemophilia
Examples of Chromosomal Disorders - Answer Aneuploidy
- Abnormal chromosome number (too many/few)
- MOST common abnormality
Down Syndrome
- AKA Trisomy 21
- Extra copy of chromosome 21 (3 of them)
Turner Syndrome
Examples of Mitochondrial Disorders - Answer - Maternal inheritance
- Involved in energy metabolism
- Mitochondrial DNA
- RARE
- Ova = rich in mitochondria
Examples of Multi-Factorial Disease - Answer Combination of environment + genes
Congenital Malformations
,- Mental illness
- Cleft lip or cleft palate
- Heart disease
- Diabetes
Gene - Answer Unit of genetic information
Locus - Answer Precise position of each gene along a chromosome
Allele - Answer - Alternative forms of a gene
- Found at same locus on homologous chromosome
Genotype - Answer Genetic constitution of an individual
Phenotype - Answer - Physical, biochemical, physiological appearance
- Result of interaction btw environment + genotype
Mutation - Answer - Permanent change in nucleotide sequence
- Single gene or structure/number of chromosomes
- Gamete mutation = inherited
- Autosomal/somatic mutation = NOT inherited
Cytogenetics - Answer - Branch of genetics
- Study of chromosomes
BRCA1 and BRCA2 - Answer - Autosomal dominant hereditary breast cancer
- Mutation of tumor suppressor genes
- May be inherited in germ line
- Increased cancer risk
Thiopurine S-Methyltransferase Deficiency (TPMP) Polymorphism - Answer - Help pediatric
, - Strong family history
- Make appropriate long term financial plans
- Cerebral neuronal dysfunction & death
Chronic Myelogenous Leukemia - Answer - BCR-ABL 1 Oncogene
- Can sequence cancer cell DNA
- Identify specific changes in oncogenic signaling pathways
- Inappropriately activated by somatic mutation
- Lead to development of specific inhibitors
- Induce cancer remission in patients
Medical Genetics - Answer - Applying genetics to medical practice
- Disease inheritance in families
- Mapping disease genes to specific chromosome locations
- Analyze molecular mechanisms how genes cause disease
- Diagnose & treat genetic disease
- Genetic counseling
Gene Therapy - Answer Insert normal gene into patients to correct genetic disease
Gregor Mendel - Answer - Father of Genetics
- Monk who studied garden peas
Charles Darwin - Answer - Theory of Evolution
- Natural Selection
- Survival of the fittest
Francis Galton - Answer Family studies (twins)
Landsteiner - Answer ABO blood group types
