Understanding DNA, Genes, and Chromosomes

ITEM 5: DNA

Deoxyribonucleic acid (DNA) is a molecule that contains all the genetic information, dictating traits like body structure and eye color.

DNA Components

  • Monosaccharides
  • Phosphoric acid
  • Nucleobases

Nucleotide Components: A nucleotide consists of a nucleobase, a monosaccharide, and phosphoric acid.

Nitrogenous Bases:

  • Cytosine
  • Guanine
  • Thymine (DNA)
  • Uracil (RNA)
  • Adenine

Double Helix: The double helix is the shape created when two nucleotide chains face each other, forming a structure resembling a spiral staircase.

Clone: Stem cells that have the same genetic material as their parent.

Parts of a Chromosome

Chromatids joined by a centromere.

Constituents of a Chromosome: DNA and proteins (protamine or histone).

Karyotype: A set of chromosomes of an individual, ordered in pairs. Humans have 46 chromosomes, comprising 22 homologous pairs and one pair of sex chromosomes (Men: XY, Women: XX).

Gene: A segment of DNA with instructions to produce a particular protein.

Genotype: The set of genes of an individual.

Phenotype: The external appearance of a genetic character.

Protein Function

Proteins protect and provide consistency, transport substances, activate defense mechanisms, produce movements, package hereditary material, receive signals, and facilitate biochemical reactions.

Codon: A triplet of bases that encodes an amino acid, which are the building blocks of protein.

Degenerate Codon: A codon is considered degenerate because there are more base triplets than necessary.

Difference between RNA and DNA: Ribosomes are present in RNA, but not in DNA.

Types of RNA

  • Messenger RNA (mRNA)
  • Transfer RNA (tRNA)
  • Ribosomal RNA (rRNA)
  • Nucleolar RNA

Translation: The process of converting information from mRNA to protein.

Transcription: The process of transferring information from tRNA to mRNA.

Anticodon Location: Anticodons are found in tRNA.

Mutations and Polymorphisms

Mutation: A change in the nucleotide sequence of DNA.

Polymorphism: A mutation in a DNA region that does *not* encode any gene, and therefore does not cause any change in the protein.

Pathological Mutations: Mutations that cause significant changes in proteins and can lead to diseases.

Founder Effect: When a subspecies founder carries a relatively rare allele, that allele can become fixed in the new population with a high frequency.

Key Terms

  • Hereditary Material: Nucleic acids.
  • DNA: Molecules made up of four repeated and differently combined units (nucleotides).
  • Nucleotides: Composed of a phosphate group, a pentagonal sugar, and a nucleobase.
  • Nucleobases: Cytosine, guanine, thymine, adenine.
  • One chromosome contains one DNA molecule.
  • Humans have 46 chromosomes, in 23 pairs.
  • Homologous Chromosomes: Chromosomes that are the same.
  • Karyotype: The set of chromosomes of an organism.
  • Gametogenesis: The production of reproductive cells from a cell with 46 chromosomes.
  • Alleles: Different variations of the same gene.
  • Mutation: A change in the nucleotide sequence of DNA.
  • Polymorphism: When a mutation occurs in a DNA region that does not encode any gene.
  • Polydactyly: A disease that causes the appearance of extra fingers on the hands and feet.
  • Gene: A fragment of DNA that encodes a specific protein.
  • Protein: Formed by amino acids and having various functions.
  • Messenger RNA Function: Carries information to the ribosome for protein synthesis.
  • Pathogenic Mutation: A change in DNA that causes a disease.