The Information in a Human Genome

A set of practice flashcards covering core concepts from the lecture notes on human genetics, including basic definitions, processes (DNA replication, transcription, translation), genetics vs heredity, mutations, chromosomes, pedigrees, and modern applications (forensics, biobanks, precision medicine, CRISPR, and metagenomics).

What is the difference between genetics and heredity?

Genetics is the science that studies how traits are encoded in DNA and transmitted, while heredity concerns the transmission of those traits and biological information between generations.

Define gene, exome, and genome.

Gene: a basic unit of heredity made of DNA; Exome: the part of the genome that encodes proteins; Genome: the complete set of genetic information.

What is bioethics?

Bioethics addresses issues and controversies that arise in applying medical technology and using genetic information.

List the levels of genetics.

Molecular level; cells; tissues and organs; individuals; families; populations; and evolution of species.

How does DNA lead to protein production?

DNA is replicated; transcription copies DNA into mRNA; translation uses mRNA to assemble amino acids into proteins (central dogma: DNA -> RNA -> protein).

What is a mutation and how can it affect health?

A mutation is a change in a gene; alleles are variants; mutations can be inherited or arise and may be positive, negative, or neutral.

What underlies genetic diversity?

Genetic variation arising from mutations, recombination, and variation at DNA bases (e.g., SNPs) across populations.

What is the relationship between DNA and chromosomes?

DNA is packaged into chromosomes; chromosomes contain DNA and proteins; humans have 23 pairs of chromosomes in somatic cells.

Differentiate Mendelian and complex traits.

Mendelian traits are caused by a single gene; complex traits involve multiple genes and environmental factors.

What are SNPs (single nucleotide polymorphisms)?

Locations in the genome where DNA bases vary among individuals; used in medical and other applications.

Explain the central dogma of molecular biology.

Genetic information flows from DNA to RNA via transcription, then to protein via translation; proteins determine traits.

What is CFTR and its role in cystic fibrosis?

CFTR is the cystic fibrosis transmembrane conductance regulator protein; malfunction causes ion-channel defects leading to thick secretions and CF symptoms.

What is a karyotype?

A display of chromosome pairs sorted largest to smallest; humans have 23 pairs including the sex chromosomes.

Differentiate genotype and phenotype.

Genotype is the underlying DNA instructions (alleles present); phenotype is the observable trait or health effect.

What is a pedigree?

A chart showing family members and inherited traits to track transmission.

What is the gene pool?

The collection of all alleles in a population; allele frequencies define the gene pool.

What is DNA profiling used for?

Comparing DNA sequences to identify individuals, assess relatedness or ancestry; used in forensics, disaster victim ID, and food authentication.

What is exome sequencing and its utility?

Sequencing all protein-coding regions of the genome; helps identify extremely rare diseases quickly.

What is metagenomics?

Sequencing all DNA in a habitat to study interactions of species and discover new drugs or energy sources.

What are precision medicine and pharmacogenetics?

Precision medicine tailors treatments to individuals based on genetic data; pharmacogenetics predicts drug efficacy and side effects for individuals.

What is genetic modification and how is CRISPR related?

Genetic modification alters a gene/genome; GMOs arise from recombinant DNA; genome editing (e.g., CRISPR-Cas9) can add, remove, or replace specific genes.

Why is DNA analysis important for history and identity?

DNA analysis can illuminate historical questions, confirm or challenge anthropology and history, and help identify individuals or victims.