Building Blocks, ppt 1, Genetic and Organic Syndromes

VOCABULARY flashcards covering the basic building blocks of genetics, including DNA/RNA structures, chromosomal terminology, protein synthesis, and epigenetic disorders.

Central Dogma

The core biological principle that "DNA makes RNA, which makes protein."

Nucleic Acid

Complex organic molecules made of nucleotide chains, consisting of a sugar molecule, a phosphate group, and a nitrogenous base.

DNA (Deoxyribonucleic acid)

A double-helix molecule using deoxyribose sugar and base pairs of Adenine-Thymine ($A-T$) and Cytosine-Guanine ($C-G$).

RNA (Ribonucleic acid)

A single-stranded molecule using ribose sugar and bases including Adenine, Uracil ($U$), Cytosine, and Guanine.

mRNA (messenger RNA)

Copies of sections of DNA that can leave the nucleus to provide the template for protein synthesis.

tRNA (transfer RNA)

Transport RNA that carries specific amino acids to the ribosome and attaches to specific codons during protein synthesis.

miRNA (microRNA)

A type of RNA that modifies gene expression by interfering with matching mRNAs, potentially reducing the amount of protein produced.

Chromosomes

Structures made of packaged DNA and histones; humans typically have $23$ pairs, totaling $46$ in each cell.

p arm

The short arm of a chromosome.

q arm

The long arm of a chromosome.

Centromere

The region of a chromosome that joins the two sister chromatids or divides the p and q arms.

Autosomes

The first $22$ pairs of chromosomes in humans that are not sex chromosomes.

Locus

The specific chromosomal address or location of a gene, such as $7q31.2$ for the CTFR gene.

Allele

A variant or slight variation of a gene found at a specific locus.

Codon

A specific sequence of three bases that codes for a single amino acid.

Amino Acid

The biological building blocks of proteins; while over $500$ exist, the human genetic code only codes for $20$.

Protein

The end-product formed by chains of amino acids organized into primary, secondary, tertiary, and quaternary levels of complexity.

Genome

The complete set of chromosomes composed of all DNA and genes that make up the complete code for an organism.

Epigenetics

Changes in traits that are not explained by actual changes in the genetic building blocks, such as methylation, imprinting, or histone acetylation.

Imprinting

An epigenetic mechanism where genes from one parent are silenced or repressed.

Prader-Willi Syndrome

A disorder involving an inherited mutated allele from the father while the mother's allele is silenced; characterized by intellectual disability and Hyperphagia (excessive eating).

Angelman Syndrome

A disorder involving an inherited mutated allele from the mother while the father's allele is silenced; characterized by excessive laughter, a happy demeanor, seizures, and intellectual disability.

Childhood apraxia of speech (CAS)

A severe childhood speech disorder characterized by motor programming and planning deficits, often with genetic aetiologies.

Precision medicine

An approach to managing disease by considering an individual’s genetic and environmental profile to improve prevention and personalized treatments.

Classic Galactosemia (CG)

An inborn error of metabolism diagnosed via newborn screening, associated with a high risk for severe speech and language disorders.

Babble Boot Camp

A parent-training program of activities and routines for infants with classic galactosemia, starting at $2$ months of age to improve outcomes.

5-alpha reductase deficiency

An intersex condition where an individual has a $46XY$ makeup but a mutation in the $SRD5A2$ gene causes a deficiency in dihydrotestosterone.

Chaperonins

Heat shock proteins responsible for the folding and processing of protein chains.

Transcription

The process occurring in the nucleus where DNA is used as a template to produce mRNA.

Translation

The process occurring in the cytoplasm at the ribosome where mRNA is decoded to synthesize a protein chain.