Genetic Diseases and Concepts

These flashcards cover key concepts related to genetic diseases and the genetic mechanisms involved.

What are the basic characteristics of a genetic disease?

Genetic diseases are caused by mutations in genes that can be inherited from one generation to the next.

What is a gene?

A gene is a segment of DNA that contains the instructions for producing a product, usually a protein, and is the basic unit of inheritance.

What does inheritance refer to?

Inheritance refers to the process by which traits are passed from parents to offspring through genes contained in gametes.

What is the structure of hemoglobin?

Hemoglobin is a complex protein composed of four polypeptide chains, each with a heme group that binds to iron.

What is the primary function of hemoglobin?

Hemoglobin's primary function is to transport oxygen from the lungs to tissues and carry carbon dioxide back to the lungs for exhalation.

What happens with red blood cells during gas exchange?

During gas exchange, oxygen diffuses from the alveoli into the blood and binds to hemoglobin in red blood cells, while carbon dioxide diffuses from the blood into the alveoli.

How did scientists determine the structure of DNA?

Scientists like Rosalind Franklin used X-ray crystallography, later confirmed by Watson and Crick, revealing DNA's double-helix structure.

What is the structure of DNA?

DNA is a double helix made of two strands of nucleotides, each containing a sugar, phosphate group, and nitrogenous base (A, T, G, C).

How is DNA copied in the cell?

DNA replication is a semi-conservative process where one old strand and one new strand compose each new DNA molecule, utilizing helicase and DNA polymerase.

What are the steps of PCR?

The steps of PCR include Denaturation, Annealing, and Extension.

Why is PCR important?

PCR is crucial for amplifying specific DNA segments, aiding in the study of genetic diseases, forensic analysis, and various research applications.

How are genes and alleles related?

Genes determine specific traits, while alleles are different versions of a gene; individuals have two alleles for each gene, one from each parent.

What are the two types of chromosomes?

Humans have 22 pairs of autosomes and one pair of sex chromosomes (XX for females, XY for males).

What role does meiosis play in sexual reproduction?

Meiosis produces gametes (egg and sperm) from diploid cells, resulting in haploid cells and genetic variation through independent assortment and crossing over.

What is the difference between dominant and recessive inheritance?

Dominant traits need only one allele to be expressed, while recessive traits require two alleles.

What methods can detect a genetic disorder?

Genetic disorders can be detected through blood tests, amniocentesis, chorionic villus sampling, karyotyping, and DNA sequencing.

What is the difference between ex vivo and in vivo gene therapy?

Ex vivo gene therapy modifies cells outside the body, while in vivo gene therapy delivers a therapeutic gene directly into the patient's body.

Give an example of ex vivo and in vivo gene therapy.

An example of ex vivo therapy is for SCID; an example of in vivo therapy is treating cystic fibrosis by spraying the functional gene into the respiratory tract.

How can genome editing treat genetic diseases?

Genome editing allows for precise modifications to DNA sequences, potentially correcting mutations that cause genetic diseases.

Where did CRISPR come from and how is it used?

CRISPR was discovered in bacteria as an immune defense and is used in humans to deactivate harmful genes or correct mutations associated with genetic diseases.