Genetics C1&2

Genetics

The study of heredity and the variation of inherited characteristics.

Genomics

The study of the entire genome, including the interactions of genes with each other and the environment.

Human Genome Project

An international scientific research project that successfully mapped and sequenced the entire human genome.

Medical Genetics

A medical specialty that deals with the diagnosis and management of hereditary disorders.

Chromosome Disorders

Disorders caused by changes in the number or structure of chromosomes.

Single-Gene Disorders

Disorders caused by mutations in a single gene.

Multifactorial Disorders

Disorders caused by a combination of genetic and environmental factors.

Variant of Uncertain Significance (VUS)

A genetic change whose impact on health is not yet known.

Penetrance

The proportion of individuals with a specific genetic variant who exhibit the associated phenotype.

Pleiotropy

A single gene influencing multiple phenotypic traits.

Human Genome

The complete set of DNA in a human, including all genes and non-coding sequences.

Chromosome

A structure composed of DNA and proteins that carries genetic information.

Karyotype

The number and appearance of chromosomes in the nucleus of a eukaryotic cell.

Autosomes

Chromosomes that are not sex chromosomes.

Sex Chromosomes

Chromosomes that determine an individual's sex.

Mitochondrial DNA (mtDNA)

DNA located in the mitochondria, inherited maternally.

DNA Structure

A double helix composed of nucleotides (A, T, C, G).

Nucleosome

The basic unit of DNA packaging in eukaryotes, consisting of DNA wrapped around histone proteins.

Histones

Proteins that help package DNA into nucleosomes.

Mitosis

Cell division that results in two identical daughter cells.

Meiosis

Cell division that produces gametes (sperm and egg) with half the chromosome number.

Crossing Over

The exchange of genetic material between homologous chromosomes during meiosis.

Gametogenesis

The process of forming gametes (sperm and egg) through meiosis.

Spermatogenesis

The process of sperm production in males.

Oogenesis

The process of egg production in females.

Fertilization

The fusion of sperm and egg to form a zygote.

Zygote

The diploid cell formed by the fusion of sperm and egg.

Telomeres

Repetitive DNA sequences at the ends of chromosomes that protect them from degradation.

Centromere

The region of a chromosome where sister chromatids are joined and where spindle fibers attach during cell division.

Allele

Different versions of a gene that can exist at a specific locus.

Genotype

The genetic makeup of an organism.

Phenotype

The observable characteristics of an organism, resulting from the interaction of genotype and environment.

Homologous Chromosomes

Chromosome pairs (one from each parent) that are similar in length, gene position, and centromere location.

Haploid

A cell with one set of chromosomes (n).

Diploid

A cell with two sets of chromosomes (2n).

Recombination

The process by which DNA is exchanged between homologous chromosomes during meiosis.

Nondisjunction

The failure of chromosomes to separate properly during cell division.

Aneuploidy

The presence of an abnormal number of chromosomes in a cell.

Gene

A unit of heredity that is transferred from parent to offspring and determines some characteristic of the offspring.

Exome

The part of the genome that codes for proteins.

Repetitive DNA

Sequences of DNA that are repeated multiple times in the genome.

Alu Elements

A type of repetitive DNA sequence found in the human genome.

LINEs (Long Interspersed Nuclear Elements)

A type of repetitive DNA sequence that can move around the genome.

Segmental Duplications

Large blocks of DNA that are duplicated in the genome.

Genetic Variation

Differences in DNA sequences among individuals.

SNP (Single Nucleotide Polymorphism)

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

Copy Number Variation (CNV)

A type of genetic variation where the number of copies of a particular gene or DNA segment varies among individuals.

Telomere Syndromes

Disorders caused by defects in telomere maintenance.

Cytogenetics

The study of chromosomes and their role in heredity.

Chromatin

The complex of DNA and proteins that makes up chromosomes.