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DNA
Deoxyribonucleic Acid is found in the nucleus of every cell. It carries the genetic instructions for the development, functioning and reproduction of all living organisms
How many chromosomes does a human have ?
46 (23 pairs)
What does DNA code for
inherited characteristics - such as eye colour, blood type
DNA replication
Replication copies DNA before cell division so each new cell receives a complete set of genetic instructions
Males chromosomes
XY (one X, one Y chromosome)
side note- X-linked recessive conditions appear more often in males because they have no second X to ‘mask’ the recessive allele
Female chromosomes
XX (two X chromosomes)
Punnett squares
are used to predict the probability of offspring inheriting particular genotypes and phenotypes

Reading Pedigree charts
Squares- males
circles- females
shaded- affected individual
unshaded- unaffected
horizontal line between two individuals- mating pair
vertical lines- offspring
Type of inheritance from a pedigree
If the trait skips a generation- likely recessive
if every generation is affected- likely dominant
if only males are affected- likely X-linked recessive
If both sexes equally affected- likely autosomal
Nucleotide
The structural (building block) unit of DNA. Consists of a deoxyribose sugar + phosphate backbone + one nitrogenous base. |
Nitrogenous bases |
Adenine (A), Thymine (T), Cytosine (C), Guanine (G). Bases pair specifically: A–T and C–G (complementary base pairing).
DNA
Long molecule made of nucleotides carrying genetic code. Makes up chromosomes
Gene
A specific segment of DNA that codes for a particular trait or protein. A section of DNA on a chromosome
Chromosome |
Tightly coiled strands of DNA found in the nucleus. Contains thousands of genes
Two Basic Functions of DNA
• Carrying genetic information — the sequence of bases stores instructions for all traits
• Coding to produce proteins — genes direct the production of proteins that control body functions
Helicase
Unwinds and 'unzips' the double helix by breaking hydrogen bonds between base pairs. STEP 1
DNA Polymerase
Reads the template strand and adds complementary nucleotides to build a new strand (A–T, C–G). STEP 2
DNA Ligase
Joins (seals) fragments of newly made DNA together to form a continuous strand. STEP 3
Allele
Different versions of the same gene (e.g. B = brown eyes, b = blue eyes).
Dominant allele
Expressed in the phenotype even when only one copy is present. Written as a CAPITAL letter (e.g. B).
Recessive allele
Only expressed when two copies are present (homozygous recessive). Written in lowercase (e.g. b). |
Genotype
The genetic make-up of an organism — the alleles it carries (e.g. BB, Bb, bb).
Phenotype
The physical expression of the genotype — the trait that is visible (e.g. brown eyes).
Homozygous
Two identical alleles (BB or bb).
Heterozygous
Two different alleles (Bb). The dominant trait is expressed.
Autosomal
On non-sex chromosomes (chromosomes 1–22). Cystic fibrosis, freckles. Affects males and females equally
Sex-linked
On the X chromosome (usually). Colour blindness, haemophilia. More common in males (they have only one X)