NURS 6501 – Week 2 Study Guide

NURS 6501 – Week 2 Study Guide
Genetics & Genomics in Pathophysiology

Walden University | Advanced Pathophysiology


A+ Rated | Exam-Focused Notes + 10 NCLEX Practice Questions


Key Concepts in Genetics

1. DNA Structure

• Double helix made of nucleotides (A-T, C-G pairs)

• Located in the nucleus

• Replicates during interphase for cell division

2. Genes & Chromosomes

• Gene = Basic unit of inheritance

• Alleles = Different forms of a gene (dominant/recessive)

• Homozygous = Same alleles (e.g., AA), Heterozygous = Different (e.g., Aa)

• Humans have 23 pairs of chromosomes (22 autosomes, 1 sex pair)




Mutations

• Point mutation: A single nucleotide change (e.g., sickle cell)

• Frameshift mutation: Insertion/deletion shifts reading frame

• Mutagens: Radiation, chemicals, viruses (e.g., HPV)



Inheritance Patterns

Pattern Description Example

Autosomal Dominant One mutated copy causes disease Huntington’s disease

Autosomal Recessive Both copies must be mutated Cystic fibrosis

X-linked Recessive Mostly affects males Hemophilia A

Mitochondrial Maternal inheritance only Leber’s optic neuropathy