Gentics Exam 1

Hereditary

Biological process through which genetic traits, characteristics, or conditions are passed from one generation to the next through DNA.

Genetic Inheritance

Process by which genetic information is passed from parents to their offspring through DNA, influencing traits, characteristics, and the likelihood of developing certain diseases or conditions.

Genetic Trait

A characteristic or feature of an organism that is determined by one or more genes and may be influenced by the environment.

Gene

Segment of DNA that contains the instructions necessary to produce a functional molecule, usually a protein or functional RNA, which plays a role in biological processes or contributes to an organism's traits and health.

Human Karyotype

The complete set of chromosomes in a human, displayed in a standard format, including the total number of chromosomes and their structure.

Euchromatin

Loose chromatin that is actively transcribed and accessible for transcription factors.

Heterochromatin

Tightly packed and inactive chromatin, not actively transcribed.

Central Dogma

The flow of genetic information from DNA to RNA to protein.

Cystic Fibrosis

A genetic disorder characterized by abnormalities in the ion channels, leading to thick, sticky mucus production affecting the lungs and digestive system.

Sickle Cell Anemia

An autosomal recessive genetic disorder caused by a mutation in the HBB gene, leading to abnormal hemoglobin and resultant sickle-shaped cells.

Genetic Disorders

Diseases caused by abnormalities in an individual's genetic material, which can include single gene defects, chromosomal abnormalities, and multifactorial inheritance.

Germline Cells

Reproductive cells that can pass DNA changes to the next generation, including sperm and eggs.

Somatic Cells

Non-reproductive cells in the body that do not transmit DNA changes to offspring.

Autosomal Dominant Inheritance

A pattern of inheritance where only one copy of a mutated gene from an affected parent can cause the disorder in the offspring.

Autosomal Recessive Inheritance

A pattern of inheritance where two copies of a mutated gene are required for an offspring to express the disorder.

X-linked Inheritance

Inheritance of traits that are determined by genes located on the X chromosome.

Penetrance

The proportion of individuals with a particular genotype that actually express the corresponding phenotype.

Variable Expressivity

The degree to which a genotype manifests itself in different phenotypes among individuals.

Epistasis

The interaction between genes where one gene can mask or alter the expression of another.

Transcription Factors

Proteins that bind to specific DNA sequences, regulating the transcription of genetic information from DNA to messenger RNA.

Alternative Splicing

A process that allows a single gene to produce multiple protein variants by including or excluding certain segments of mRNA.

Locus Heterogeneity

The phenomenon where mutations at different loci can cause the same phenotype.

Allelic Heterogeneity

Different mutations at the same locus leading to the same genetic disorder.

HLA System

A group of genes that encode for proteins responsible for the regulation of the immune system in humans.

Mitochondrial Inheritance

The transmission of genetic material found in mitochondria, exclusively from mother to offspring.

Transposons

Mobile DNA sequences that can change their position within the genome, potentially leading to mutations.

DNA Replication

The process of copying DNA prior to cell division, ensuring that each new cell receives an accurate copy of the genetic material.

DNA Repair Mechanisms

Various cellular processes that correct damage to the DNA molecules that encode the genome.

Trinucleotide Repeat Expansion

A mutation where a sequence of three nucleotides is repeated too many times, leading to various genetic disorders.