HUMAN GENETICS

RANEEM SANURI
CHROMOSOMES

• Located in the nucleus

• Made of protein and a single molecule of DNA
• Linear and arranged in pairs in eukaryotic cells
• Circular in prokaryotic cells
• Somatic cells contain 46 chromosomes (diploid)
• Gametes contain 23 chromosomes (haploid)
STRUCTURE OF CHROMOSOMES

• Composed of two chromatids

• Centromere at the center holds them together
• Euchromatin is loosely coiled and this where active
genes are located
• Heterochromatin is tightly coiled and this is where
inactive genes are located
• Telomeres are repetitive, non-coding sequences that
protect the strand from degrading during replication
 CELL CYCLE
1. Interphase:
• G1: cell increases its supply of proteins, increases
the number of organelles (such as mitochondria,
ribosomes), and grows in size
• S: amount of DNA is doubled
• G2: protein synthesis and rapid cell growth occur,
and microtubules begin to reorganize to form a
spindle

2. Mitosis:
• Prophase
• Metaphase
• Anaphase
• Telophase
MEIOSIS
• A specialized type of cell division that
creates for haploid cells, each genetically
distinct from the parent cell that gave rise
to them
• Results in the production of gametes
 MITOSIS VS. MEIOSIS
Mitosis Meiosis

• Only one cell division • Two cell divisions

• Non-sister chromatids cant exchange genetic material
• Produces two daughter cells
• Diploid
• Clones body cells to produce genetically identical cells
• Non-sister chromatids may exchange genetic material
(crossing over => increase genetic variation)
• Four daughter cells
• Haploid
• Generates sex cells that are genetically distinct
CHROMOSOME INHERITANCE

• Genes have specific loci (positions) on chromosomes

• Chromosomes undergo segregation and independent assortment :
1. Segregation: homologous pairs separate from each other and migrate to opposite poles of the nucleus
2. Independent assortment: each pair of alleles seperate independently of other pairs of alleles during gamete
formation
GENOTYPE AND PHENOTYPE

• Genotype: complete heritable genetic identity, or can be used to refer to a particular set of genes
carried by an individual.
• Phenotype: a description of the organism’s physical characteristics (height and eye color)
• Not all phenotypes are a result of genotypes (environmental factors affect the phenotype)
MONOHYBRID AND DIHYBRID CROSSES
• Monohybrid: crossing parents • Dihybrid: crossing parents who
who differ in only one trait (AA differ in two traits (AAEE with
with aa) aaee)
GENE EXPRESSION

• A process by which information from a gene is used in the synthesis of a functional gene product
DNA AND RNA STRUCTURE
DNA AND RNA FUNCTION

• DNA:
- stores an organisms genetic material in the nuclei
- replicates itself when dividing 
- provides code or template for the particular sequencing of amino acids that bond together and make a
protein
• RNA:
- converts the genetic information contained within DNA to a format used to build proteins, and then
moves it to ribosomal protein factories. 
DNA VS. RNA