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DNA
genetic information
Found within the nucleus of each and every cell in the body
Tightly packed into chromosomes
Chromosomes in a Human
23 pairs of homologous chromosomes (46 in total)
22 pairs of autosomes
1 pair of sex chromosomes
What do Homologous chromosomes carry?
Different forms of the same genes (alleles)
Diploid
Human Body Cells
2n = 46
Haploid
Human Sex Cells
N = 23
Cell Cycle
Each cell goes through three phases before it actually divides
G1 Phase (cell growth)
S Phase (DNA replication)
G2 Phase (preparation for division)
Collectively, phases are referred to as interphase (90% of cell life)
Mitosis
2n → 2n
Produces somatic / body cells
Produce daughter cells that are identical to the parent cell
Growth, maintenance, repair
Cancer
Uncontrolled cell growth due to the under-production of chemicals that regulate growth factors or the over-production of growth factors themselves
Meiosis
2n → n → n
Produces gametes / sex cells
Produces daughter cells with fewer chromosomes than parent cells
Produces chromosomes with different combinations of genes compared to those in parent cells
Meiosis Nondisjunction
Major cause of chromosomal abnormalities
Most occur in oogenesis due to maternal age
Meiosis I: Anaphase I
Homologous chromosomes (tetrad) fail to separate
Most chromosomal abnormalities occur here
Meiosis II: Anaphase II
Sister chromatids fail to separate
Nondisjunction results in:
Monosomy: Missing a chromosome (2n=45)
If missing any full chromosome, other than X, it is lethal
Turner Syndrome (XO) → cannot have kids (sterile)
Trisomy: Extra chromosome (2n = 47)
Down syndrome (21)
Amniocentesis
Prenatal test (16th-20th week)
A sample of fluid surrounding baby
Chorionic villi sampling (CVS)
Tissue taken from chorion / placenta
11th - 14th week
Karyotype
Picture of the chromosomes
Matched up by size, banding pattern, centromere location=