Introduction to Genetics and Inherited Diseases Flashcards
What is the function of the nucleus in a cell?
The nucleus acts as the control center of the cell and stores genetic material in the form of chromosomes.
What are chromosomes made of?
Chromosomes are composed of DNA wrapped around specialized proteins called histones.
How long would the DNA in a single human cell be if stretched out?
Nearly six feet long.
What is a karyotype?
A karyotype is a complete set of chromosomes in a cell, used to study chromosomal abnormalities and genetic conditions.
How many chromosomes do humans have?
Humans have 46 chromosomes, arranged in 23 pairs.
What are autosomes?
Autosomes are the 22 pairs of chromosomes that determine most traits in humans, excluding sex determination.
What are the sex chromosomes in males and females?
Females have XX chromosomes, while males have XY chromosomes.
What is the structure of DNA?
DNA has a double-helix structure, resembling a spiraling staircase.
What are the four nucleotide bases in DNA?
Adenine (A), Thymine (T), Cytosine (C), and Guanine (G).
Which nucleotide bases pair together in DNA?
Adenine pairs with Thymine, and Cytosine pairs with Guanine.
What is a gene?
A gene is a specific segment of DNA that contains the instructions for making a protein.
What is an allele?
An allele is a different version of the same gene.
What is the difference between dominant and recessive alleles?
Dominant alleles express a trait if one copy is present, while recessive alleles require two copies.
What does homozygous mean?
Homozygous means an individual has two identical alleles for a gene.
What does heterozygous mean?
Heterozygous means an individual has two different alleles for a gene.
What is transcription?
Transcription is the process where DNA is copied into mRNA in the nucleus.
What is translation?
Translation is the process where ribosomes use mRNA to assemble proteins from amino acids.
What role do ribosomes play in protein synthesis?
Ribosomes read mRNA and help assemble proteins by linking amino acids together.
What is the Central Dogma of Biology?
DNA → RNA → Protein; it describes the flow of genetic information from DNA to protein synthesis.
What are proteins?
Proteins are essential molecules that function as enzymes, hormones, antibodies, and structural components.
What is a point mutation?
A point mutation is when a single nucleotide is replaced with another.
What is a missense mutation?
A missense mutation changes one amino acid in a protein, which can alter its function.
What is a nonsense mutation?
A nonsense mutation creates a premature stop codon, leading to a truncated and usually nonfunctional protein.
What is a frameshift mutation?
A frameshift mutation occurs when nucleotides are inserted or deleted, shifting the entire reading frame and altering all following amino acids.
What is an example of a disorder caused by a frameshift mutation?
Cystic fibrosis is often caused by the deletion of three nucleotides in the CFTR gene.
What are chromosomal abnormalities?
Chromosomal abnormalities involve changes in entire chromosomes or large chromosome segments.
What is Trisomy 21?
Trisomy 21, also known as Down syndrome, is caused by an extra copy of chromosome 21.
What is Turner syndrome?
Turner syndrome results from a missing X chromosome in females.
What is epigenetics?
Epigenetics involves modifications that turn genes on or off without changing the DNA sequence.
What is an example of a disorder caused by epigenetic changes?
Prader-Willi and Angelman syndromes are caused by improper gene expression due to imprinting.
What is pharmacogenetics?
Pharmacogenetics studies how genetic mutations affect drug metabolism.
What is an example of a genetic mutation affecting drug metabolism?
CYP2D6 mutations influence how people respond to antidepressants.
What is an example of a disease caused by an oncogene mutation?
HER2 mutations in breast cancer.
What is gene therapy?
Gene therapy involves correcting harmful mutations using gene-editing technologies like CRISPR.
