Lecture 10 PPT Human Genome and Genetics

These flashcards cover significant terms and definitions relating to the Human Genome Project and associated genetics topics.

Human Genome Project (HGP)

An international scientific research project aimed at mapping and understanding all the genes of the human species.

Genome Centers

Institutions established to support research and development related to the Human Genome Project.

BRCA1 gene

A gene that is important for the repair of DNA breaks; linked to a higher risk of breast cancer.

Ethical, Legal, and Social Implications (ELSI)

A program to address the ethical, legal, and social issues arising from the Human Genome Project.

Recombinant DNA technology

A technology that allows for the combination of DNA from different sources.

Transposons

Movable DNA sequences that can insert themselves into different locations within a genome.

Single-copy DNA sequences

Unique sequences in the genome that are present as a single copy.

Repetitive DNA sequences

DNA sequences that are repeated multiple times in the genome, includes tandem and interspersed repeats.

Pseudogenes

Non-functional sequences in the genome that resemble functional genes.

Gene-rich regions

Areas in the genome that contain a high density of genes.

Introns

Non-coding sections of a gene that are not included in the final mRNA product.

cDNA

Complementary DNA synthesized from an mRNA template.

Structural protein

Proteins that provide support and shape to cells and tissues.

mRNA

Messenger RNA, the form of RNA that translates genetic information from DNA to synthesize proteins.

Gene mapping

The process of determining the location and chemical sequence of specific genes on a chromosome.

Human Pangenome Reference Consortium

An initiative to provide a comprehensive reference of human genetic diversity.

Deep sequencing

A high-throughput method for analyzing the sequence of DNA more deeply than traditional sequencing.

Direct-to-Consumer (DTC) genetic testing

Genetic tests that can be purchased directly by consumers without healthcare provider involvement.

SNP (Single Nucleotide Polymorphism)

A variation at a single position in a DNA sequence among individuals.

Ancillary services

Additional services provided by genetic testing companies, such as genetic counseling.

Mitochondrial DNA

DNA located in the mitochondria that is inherited maternally.

Whole exome sequencing

A genomic technique for sequencing all the protein-coding regions of genes in a genome.

Genome sequencing

The process of determining the complete DNA sequence of an organism's genome.

Human Genome Organization (HUGO)

An international organization that coordinates research on human genomes.

National Human Genome Research Institute (NHGRI)

A part of the NIH that supports research on the human genome.

Alu elements

Short, repetitive DNA sequences that make up a significant portion of the human genome.

LINE (Long Interspersed Nuclear Elements)

A class of transposable elements in the genome that can affect gene function.

Gene expression

The process by which information from a gene is used to synthesize a functional gene product.

Nucleotide identity

The percentage of nucleotides that are identical in two sequences.

VUS (Variant of Uncertain Significance)

A genetic variant whose impact on disease risk is not well characterized.

Belmont Report

A report that outlines ethical principles and guidelines for research involving human subjects.

GenBank

A publicly accessible database of nucleotide sequences and their protein translations.

Telomere-to-Telomere (T2T) consortium

A project focusing on the complete sequencing of human chromosomal ends (telomeres) to define the entire genome.