Biochemical Genetics and Genetic Engineering

These flashcards cover key concepts of biochemical genetics and genetic engineering based on the lecture notes provided.

What is genetics?

The study of genes and how traits or conditions are passed down from one generation to another.

What does genomics study?

The study of genomes and the interactions of genes with each other and the environment.

What are the different aspects of genetics?

Cytogenetics, Mendelian Genetics, Molecular Genetics, Plant & Animal Genetics, Microbial Genetics, Population Genetics.

What fields are applied genetics in?

Medicine, Philosophy, Agriculture, Ecology, Law, and Social Justice.

Why is understanding genetics important in medical school?

It helps understand how DNA variations affect disease and health, leading to innovative diagnosis and treatments.

What is the focus of genomic medicine?

Understanding how genetic variations can impact the diagnosis and progression of diseases.

What advancement happened in genetics between 1953 and 2003?

The discovery of DNA, completion of pathogen genome projects, and the Human Genome Project.

What role does genetic information play in oncology?

It helps change diagnosis and treatment approaches for cancer.

Why should genetics teaching increase in medical education?

To prepare future physicians to utilize new genetic technologies and understand associated ethical issues.

What is the central dogma of molecular biology?

A theory stating that genetic information flows from DNA to RNA to protein.

What is the definition of a genome?

All the DNA in a cell, including genes, intergenic sequences, and repeats.

What is DNA's role in heredity?

DNA stores and transmits genetic information to offspring.

What are the nitrogenous bases of nucleic acids?

Purines and pyrimidines.

What is a nucleotide comprised of?

A nitrogenous base, a pentose sugar, and a phosphate group.

Describe a phosphodiester bond.

The covalent bond linking successive nucleotides in nucleic acids.

What causes sickle cell anemia at the molecular level?

A point mutation in the hemoglobin gene leads to a change in amino acid sequence.

What is a gene?

A segment of DNA that codes for polypeptides or RNAs.

How is the human genome organized?

It comprises about 20,000 to 25,000 genes located on 23 pairs of chromosomes.

What is a point mutation?

A change in a single nucleotide sequence in a gene.

What is the difference between somatic and germline mutations?

Somatic mutations affect body cells and are not inherited, while germline mutations occur in germ cells and can be passed to offspring.

What are the possible effects of mutations?

They can result in loss of function, gain of function, or no change in activity.

What is gene therapy?

A technique that modifies genes to treat or cure disease.

What is a recombinant DNA?

DNA formed by joining DNA from different species.

What are the applications of genetic engineering?

Research, agriculture, industry, medicine, etc.

How is insulin produced using genetic engineering?

By inserting the human insulin gene into bacteria or yeast cells, which then produce insulin.

What are SNPs in genetics?

Single nucleotide polymorphisms that are variations at a single base in the DNA sequence.

What is the significance of gene polymorphism?

It contributes to genetic diversity and can lead to different traits in a population.

What is a frameshift mutation?

An insertion or deletion that shifts the reading frame of the gene's codons.

What is the role of repair mechanisms in genetics?

To correct mutations or damage in DNA to maintain genetic integrity.

What is the advantage of recombinant vaccines?

They offer greater predictability and improved efficacy.

What genetic factors contribute to type 2 diabetes?

Genes like TCF7L2, ABCC8, CAPN10, which are linked to insulin production and regulation.

How do environmental factors interact with genetic predispositions?

They may trigger conditions in individuals who have a genetic predisposition.

What is the difference between a dominant and recessive allele?

A dominant allele is expressed, while a recessive allele is masked unless in a homozygous state.

What is the function of a vector in genetic engineering?

To carry foreign DNA into a host cell for cloning or expression.

What are the characteristics of cloning vectors?

They can replicate independently, carry selectable markers, contain unique cleavage sites, and are easy to recover.

Define anticodon.

A sequence of three nucleotides in tRNA that pairs with the complementary codon in mRNA during translation.

What is the significance of the human genome project?

It aimed to map and understand all the genes of the human species.

Why are plasmids important for genetic engineering?

Plasmids can carry genes for traits like antibiotic resistance and can replicate independently within bacteria.

What is a dynamic mutation?

A mutation associated with the expansion of repetitive sequences in DNA.

What causes albinism at the genetic level?

Mutations in genes like TYR, which affect melanin production in skin, hair, or eyes.

What is genetic predisposition?

An increased chance of developing a particular disease based on genetic characteristics.

What are the two main types of DNA molecules?

Double-stranded DNA and single-stranded RNA.

How does the structure of eukaryotic chromosomes differ from prokaryotic chromosomes?

Eukaryotic chromosomes are complex, organized with histones, and linear, while prokaryotic chromosomes are circular and less complex.

What is antibiotic resistance in bacteria related to?

Genes located on plasmids that can be transferred between bacteria.

What role does transcription play in gene expression?

It converts DNA to RNA, making the genes accessible for translation into proteins.

What is a therapeutic application of understanding genetics?

Gene therapy to alter genetic causes of diseases.

Why is precision medicine important?

It tailors treatment to the individual's genetic makeup for improved efficacy.

What is the process of polymerase chain reaction (PCR)?

A technique used to amplify specific DNA sequences.

How do viruses replicate?

They hijack the host cell's machinery to replicate and assemble new virus particles.

What are the defining features of eukaryotic cells?

Presence of a nucleus, organelles, and complex chromosome structure.

What are the implications of gene mutations?

They can lead to diseases and are a source of genetic variability.

Define pathogenicity in terms of genetics.

The ability of an organism to cause disease, influenced by genetic makeup.

What is gene cloning?

The process of making multiple copies of a specific gene.

What does the term 'recombinant' imply in genetic engineering?

Refers to DNA that is constructed by joining segments from different sources.

What genetic modifications are used in vaccine production?

Incorporating pieces of viral DNA to stimulate immune responses.

How do external factors influence genetic predispositions for diseases?

They can act as triggers that lead to the manifestation of a genetically predisposed disease.

What is the role of restriction enzymes in genetic engineering?

To cut DNA at specific sequences for cloning or modification.

What limits do mutations have on organisms?

They can cause disorders, impair functions, or provide benefits through adaptability.

What is biochemistry's role in genetics?

It studies the chemical processes within and related to living organisms.

What is the importance of histones in DNA packaging?

Histones help condense DNA into chromatin, allowing for efficient storage and gene regulation.

How does genetic diversity benefit populations?

It enhances adaptability to changing environments and survival against diseases.

What is the relationship between genes and phenotypes?

Genes are segments of DNA that determine the inherited characteristics or traits (phenotypes) of an organism.

Define intergenic sequences.

DNA sequences located between genes that may regulate gene expression or have other functions.

What are the components of nucleic acids?

Nucleotides, which consist of a nitrogenous base, a pentose sugar, and a phosphate group.

How are genes associated with diseases identified?

Through genetic testing and mapping of DNA sequences linked with specific conditions.

What is a nonsense mutation?

A mutation that results in a premature stop codon, leading to truncated proteins.

Give an example of a disease caused by a point mutation.

Sickle cell anemia caused by a point mutation in the hemoglobin gene.

What is the significance of 3 billion base pairs in the human genome?

They represent the total genetic information contained within an individual human.