THE GENETIC STRUCTURE

GNTCS-1
CHROMOSOME
• where genes are located
• contains Nucleoproteins
• serves to maneuver DNA during cell division
• 2 meters of DNA in 100um distance
• 23 pairs (human)
1. Autosomes
- nonsex chromosome
- 1- 22
2. Sex Chromosomes - 1 pair

GENES
• specific sequence of nucleotides in DNA /RNA
• functional unit of inheritance
• controls transmission and expression of traits

DNA
• Deoxyribonucleic Acid Nucleic Acid
• Polynucleotide

DNA STRUCTURE
1. Nitrogen Base
2. 5 – Carbon Sugar
3. Phosphate ester

NITROGEN BASE

PURINES PYRIMIDINES

Adenine Cytosine

Guanine Uracil

Thymine

GNTCS-1
 • Guanine (G)

• Adenine

• Cytosine (C)

• Uracil (U) (in RNA)

GNTCS-1
 • 5 – Carbon Sugar

NUCLEOSIDE
• nitrogen base combined with 5-C sugar

Example: Adenosine

Adenine + ribose =

• Adenine

• Ribose

GNTCS-1
NUCLEOTIDE
• nucleoside joined with a phosphate group

Example: Adenosine Monophosphate

Adenine + ribose + phosphate =

• Adenine

• Ribose

• PO4 ester

GNTCS-1
DNA – polynucleotide

BASE PAIRING

C–G (Complementarity)
A – T (DNA).
A – U (RNA)

GNTCS-1
WATSON & CRICK Model

Maurice Wilkins
Rosalind Franklin
James Watson Francis Crick

CODON
• triplets of bases
• specific sequence of 3 nucleotides
• Forms the Amino Acids

GNTCS-1
Parts of the Chromosome
1. p Arm – short arm
2. q Arm - long arm
3.Telomere – telos, meros : end part
- prevents problems during cell division
4. Primary Constriction – centromere
a.Metacentric
b.Acrocentric
c.Telocentric

GNTCS-1
5.Secondary Constriction
– in the p arm of acrocentric chromosome

GNTCS-1
Karyotype
- sum of all chromosomal characteristics of a cell

Karyotyping
- process of determining karyotype

Idiogram
- diagrammatic representation of karyotype
- shows alternating dark and light band patterns

ex. Chromosome 9

Classic example of ALKAPTONURIA

GNTCS-1