Genetics and Genomic Disorders Overview

These flashcards cover key terms and concepts from the lecture notes on genetics, genomic disorders, inheritance patterns, and epigenetic modifications.

DNA

The molecule that carries the genetic instructions for life, composed of sequences of nucleotides.

RNA

A single-stranded molecule that plays a role in transferring genetic information from DNA for protein synthesis.

Proteins

Molecules formed from amino acids that perform a variety of functions within a cell.

Genes

Basic units of heredity that encode for proteins and determine traits.

Chromosomes

Structures that organize DNA into a compact form, with humans having 46 chromosomes arranged in 23 pairs.

Genetic replication

The process by which DNA is copied to produce two identical molecules for cell division.

Genetic expression

The process through which the information in a gene is used to synthesize functional gene products, usually proteins.

Transmission

The process of passing genetic information from parents to offspring.

Congenital disorders

Genetic disorders that are present at birth, which may be caused by genetic or environmental factors.

Autosomal dominant

A pattern of inheritance in which only one copy of an altered gene is sufficient to cause a disorder.

Autosomal recessive

A pattern of inheritance where two copies of an altered gene must be present for the disorder to manifest.

X-linked inheritance

A form of genetic inheritance where a gene causing a trait or condition is located on the X chromosome.

Penetrance

The proportion of individuals with a specific genotype that actually express the expected phenotype.

Expressivity

The degree to which a genotype is expressed in phenotype; variations can occur even with the same genotype.

Mitochondrial DNA disorders

Genetic disorders caused by mutations in the mitochondria, which can affect cellular energy production.

Epigenetics

The study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence.

Gene therapy

A technique that modifies genes to treat or prevent diseases.

BRCA mutations

Genetic mutations in BRCA1 and BRCA2 genes that significantly increase the risk of breast and ovarian cancers.

Cystic Fibrosis

A genetic disorder characterized by the buildup of thick mucus, affecting multiple organ systems, particularly the lungs.

Hemophilia

A genetic disorder in which blood does not clot properly due to the deficiency of clotting factors.

Down syndrome

A genetic disorder caused by the presence of an extra chromosome 21, leading to developmental and physical disabilities.

Genotype

The genetic constitution of an individual at a specific locus.

Phenotype

The observable physical or biochemical characteristics of an individual, as determined by both genotype and environment.